-
1
-
-
34548135154
-
Dementia, delusions and seizures: Storage disease or genetic AD?
-
Alberici A, Bonato C, Borroni B, Cotelli M, Mattioli F, Binetti G, Gennarelli M, Luca MD, Simonati A, Perani D, Rossini P, Padovani A. 2007. Dementia, delusions and seizures: Storage disease or genetic AD? Eur J Neurol 14: 1057-1059.
-
(2007)
Eur J Neurol
, vol.14
, pp. 1057-1059
-
-
Alberici, A.1
Bonato, C.2
Borroni, B.3
Cotelli, M.4
Mattioli, F.5
Binetti, G.6
Gennarelli, M.7
Luca, M.D.8
Simonati, A.9
Perani, D.10
Rossini, P.11
Padovani, A.12
-
2
-
-
84875903983
-
-
Alzheimer Disease & Frontotemporal Dementia Mutation Database. (1-1-2012). Ref Type: Online Source.
-
Alzheimer Disease & Frontotemporal Dementia Mutation Database. (1-1-2012). Ref Type: Online Source. http://www.molgen.vib-ua.be/ADMutations/
-
-
-
-
3
-
-
79952730699
-
2011 Alzheimer's disease facts and figures
-
Alzheimer's Association.
-
Alzheimer's Association. 2011. 2011 Alzheimer's disease facts and figures. Alzheimers Dement 7: 208-244.
-
(2011)
Alzheimers Dement
, vol.7
, pp. 208-244
-
-
-
4
-
-
84875910683
-
-
Alzheimer's Disease International. (21-9-2010). World Alzheimer Report 2010. The Global Economic Impact of Dementia. Wimo, A. and Prince, M. Alzheimer's Disease International (ADI). Ref Type: Report.
-
Alzheimer's Disease International. (21-9-2010). World Alzheimer Report 2010. The Global Economic Impact of Dementia. Wimo, A. and Prince, M. Alzheimer's Disease International (ADI). Ref Type: Report.
-
-
-
-
5
-
-
77957375690
-
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
-
Alzualde A, Moreno F, Martinez-Lage P, Ferrer I, Gorostidi A, Otaegui D, Blazquez L, Atares B, Cardoso S, Martinez de Pancorbo M, Juste R, Rodriguez-Martinez AB, Indakoetxea B, Lopez de Munain A. 2010. Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene. Am J Med Genet Part B 153B: 1283-1291.
-
(2010)
Am J Med Genet Part B
, vol.153 B
, pp. 1283-1291
-
-
Alzualde, A.1
Moreno, F.2
Martinez-Lage, P.3
Ferrer, I.4
Gorostidi, A.5
Otaegui, D.6
Blazquez, L.7
Atares, B.8
Cardoso, S.9
Martinez de Pancorbo, M.10
Juste, R.11
Rodriguez-Martinez, A.B.12
Indakoetxea, B.13
Lopez de Munain, A.14
-
6
-
-
79952194748
-
MAPT V363I variation in a sporadic case of frontotemporal dementia: Variable penetrant mutation or rare polymorphism?
-
Anfossi M, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC. 2011. MAPT V363I variation in a sporadic case of frontotemporal dementia: Variable penetrant mutation or rare polymorphism? Alzheimer Dis Assoc Disord 25: 96-99.
-
(2011)
Alzheimer Dis Assoc Disord
, vol.25
, pp. 96-99
-
-
Anfossi, M.1
Bernardi, L.2
Gallo, M.3
Geracitano, S.4
Colao, R.5
Puccio, G.6
Curcio, S.A.7
Frangipane, F.8
Mirabelli, M.9
Tomaino, C.10
Smirne, N.11
Maletta, R.12
Bruni, A.C.13
-
7
-
-
0035479323
-
Systematic genetic study of Alzheimer disease in Latin America: Mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia
-
Arango D, Cruts M, Torres O, Backhovens H, Serrano ML, Villareal E, Montanes P, Matallana D, Cano C, Van Broeckhoven C, Jacquier M. 2001. Systematic genetic study of Alzheimer disease in Latin America: Mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet 103: 138-143.
-
(2001)
Am J Med Genet
, vol.103
, pp. 138-143
-
-
Arango, D.1
Cruts, M.2
Torres, O.3
Backhovens, H.4
Serrano, M.L.5
Villareal, E.6
Montanes, P.7
Matallana, D.8
Cano, C.9
Van Broeckhoven, C.10
Jacquier, M.11
-
8
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. 2006. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442: 916-919.
-
(2006)
Nature
, vol.442
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
Cannon, A.11
Dwosh, E.12
Neary, D.13
Melquist, S.14
Richardson, A.15
Dickson, D.16
Berger, Z.17
Eriksen, J.18
Robinson, T.19
Zehr, C.20
Dickey, C.A.21
Crook, R.22
McGowan, E.23
Mann, D.24
Boeve, B.25
Feldman, H.26
Hutton, M.27
more..
-
9
-
-
3042856300
-
Somatic and germline mosaicism in sporadic early-onsheimer's disease
-
Beck JA, Poulter M, Campbell TA, Uphill JB, Adamson G, Geddes JF, Revesz T, Davis MB, Wood NW, Collinge J, Tabrizi SJ. 2004. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Hum Mol Genet 13: 1219-1224.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1219-1224
-
-
Beck, J.A.1
Poulter, M.2
Campbell, T.A.3
Uphill, J.B.4
Adamson, G.5
Geddes, J.F.6
Revesz, T.7
Davis, M.B.8
Wood, N.W.9
Collinge, J.10
Tabrizi, S.J.11
-
10
-
-
43249106998
-
CSF biomarkers in frontotemporal lobar degeneration with known pathology
-
Bian H, van Swieten JC, Leight S, Massimo L, Wood E, Forman M, Moore P, de Koning I, Clark CM, Rosso S, Trojanowski J, Lee VMY, Grossman M. 2008. CSF biomarkers in frontotemporal lobar degeneration with known pathology. Neurology 70: 1827-1835.
-
(2008)
Neurology
, vol.70
, pp. 1827-1835
-
-
Bian, H.1
van Swieten, J.C.2
Leight, S.3
Massimo, L.4
Wood, E.5
Forman, M.6
Moore, P.7
de Koning, I.8
Clark, C.M.9
Rosso, S.10
Trojanowski, J.11
Lee, V.M.Y.12
Grossman, M.13
-
11
-
-
79956365897
-
Cerebral amyloid angiopathy: A systematic review
-
Biffi A, Greenberg SM. 2011. Cerebral amyloid angiopathy: A systematic review. J Clin Neurol 7: 1-9.
-
(2011)
J Clin Neurol
, vol.7
, pp. 1-9
-
-
Biffi, A.1
Greenberg, S.M.2
-
12
-
-
64849093178
-
Progranulin plasma levels in the diagnosis of frontotemporal dementia
-
Bird TD. 2009. Progranulin plasma levels in the diagnosis of frontotemporal dementia. Brain 132: 568-569.
-
(2009)
Brain
, vol.132
, pp. 568-569
-
-
Bird, T.D.1
-
13
-
-
38349138030
-
Low prevalence of APP duplications in Swedish and Finnish patients with early-onsheimer's disease
-
Blom ES, Viswanathan J, Kilander L, Helisalmi S, Soininen H, Lannfelt L, Ingelsson M, Glaser A, Hiltunen M. 2008. Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease. Eur J Hum Genet 16: 171-175.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 171-175
-
-
Blom, E.S.1
Viswanathan, J.2
Kilander, L.3
Helisalmi, S.4
Soininen, H.5
Lannfelt, L.6
Ingelsson, M.7
Glaser, A.8
Hiltunen, M.9
-
14
-
-
20144386619
-
Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation
-
Boeve BF, Tremont-Lukats IW, Waclawik AJ, Murrell JR, Hermann B, Jack CRJ, Shiung MM, Smith GE, Nair AR, Lindor N, Koppikar V, Ghetti B. 2005. Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. Brain 128: 752-772.
-
(2005)
Brain
, vol.128
, pp. 752-772
-
-
Boeve, B.F.1
Tremont-Lukats, I.W.2
Waclawik, A.J.3
Murrell, J.R.4
Hermann, B.5
Jack, C.R.J.6
Shiung, M.M.7
Smith, G.E.8
Nair, A.R.9
Lindor, N.10
Koppikar, V.11
Ghetti, B.12
-
15
-
-
46149083470
-
Progranulin genetic variations in frontotemporal lobar degeneration: Evidence for low mutation frequency in an Italian clinical series
-
Borroni B, Archetti S, Alberici A, Agosti C, Gennarelli M, Bigni B, Bonvicini C, Ferrari M, Bellelli G, Galimberti D, Scarpini E, Di Lorenzo D, Caimi L, Caltagirone C, Di Luca M, Padovani A. 2008. Progranulin genetic variations in frontotemporal lobar degeneration: Evidence for low mutation frequency in an Italian clinical series. Neurogenetics 9: 197-205.
-
(2008)
Neurogenetics
, vol.9
, pp. 197-205
-
-
Borroni, B.1
Archetti, S.2
Alberici, A.3
Agosti, C.4
Gennarelli, M.5
Bigni, B.6
Bonvicini, C.7
Ferrari, M.8
Bellelli, G.9
Galimberti, D.10
Scarpini, E.11
Di Lorenzo, D.12
Caimi, L.13
Caltagirone, C.14
Di Luca, M.15
Padovani, A.16
-
16
-
-
70350721803
-
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease
-
Borroni B, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A. 2009. Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum Mutat 30: E974-E983.
-
(2009)
Hum Mutat
, vol.30
-
-
Borroni, B.1
Bonvicini, C.2
Alberici, A.3
Buratti, E.4
Agosti, C.5
Archetti, S.6
Papetti, A.7
Stuani, C.8
Di Luca, M.9
Gennarelli, M.10
Padovani, A.11
-
17
-
-
0025995623
-
Clinical genetics and genetic counseling in Alzheimer disease
-
Breitner JC. 1991. Clinical genetics and genetic counseling in Alzheimer disease. Ann Intern Med 115: 601-606.
-
(1991)
Ann Intern Med
, vol.115
, pp. 601-606
-
-
Breitner, J.C.1
-
18
-
-
33748588131
-
Early-onsheimer disease in families with late-onsheimer disease: A potential important subtype of familial Alzheimer disease
-
Brickell KL, Steinbart EJ, Rumbaugh M, Payami H, Schellenberg GD, Van Deerlin V, Yuan W, Bird TD. 2006. Early-onset Alzheimer disease in families with late-onset Alzheimer disease: A potential important subtype of familial Alzheimer disease. Arch Neurol 63: 1307-1311.
-
(2006)
Arch Neurol
, vol.63
, pp. 1307-1311
-
-
Brickell, K.L.1
Steinbart, E.J.2
Rumbaugh, M.3
Payami, H.4
Schellenberg, G.D.5
Van Deerlin, V.6
Yuan, W.7
Bird, T.D.8
-
19
-
-
34848839240
-
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease
-
Brickell KL, Leverenz JB, Steinbart EJ, Rumbaugh M, Schellenberg GD, Nochlin D, Lampe TH, Holm IE, Van D V, Yuan W, Bird TD. 2007. Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease. J Neurol Neurosurg Psychiatry 78: 1050-1055.
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 1050-1055
-
-
Brickell, K.L.1
Leverenz, J.B.2
Steinbart, E.J.3
Rumbaugh, M.4
Schellenberg, G.D.5
Nochlin, D.6
Lampe, T.H.7
Holm, I.E.8
Van D, V.9
Yuan, W.10
Bird, T.D.11
-
20
-
-
78650645588
-
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis
-
Broustal O, Camuzat A, Guillot-Noel L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le B I, Brice A. 2010. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis. J Alzheimers Dis 22: 765-769.
-
(2010)
J Alzheimers Dis
, vol.22
, pp. 765-769
-
-
Broustal, O.1
Camuzat, A.2
Guillot-Noel, L.3
Guy, N.4
Millecamps, S.5
Deffond, D.6
Lacomblez, L.7
Golfier, V.8
Hannequin, D.9
Salachas, F.10
Camu, W.11
Didic, M.12
Dubois, B.13
Meininger, V.14
Le B, I.15
Brice, A.16
-
21
-
-
33750588301
-
Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease
-
Brouwers N, Sleegers K, Engelborghs S, Bogaerts V, Serneels S, Kamali K, Corsmit E, de Leenheir E, Martin JJ, de Deyn PP, Van Broeckhoven C, Theuns J. 2006. Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease. Brain 129: 2984-2991.
-
(2006)
Brain
, vol.129
, pp. 2984-2991
-
-
Brouwers, N.1
Sleegers, K.2
Engelborghs, S.3
Bogaerts, V.4
Serneels, S.5
Kamali, K.6
Corsmit, E.7
de Leenheir, E.8
Martin, J.J.9
de Deyn, P.P.10
Van Broeckhoven, C.11
Theuns, J.12
-
22
-
-
77950898733
-
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias
-
Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, de Jonghe P, Lynch T, Mariotti C, Schols L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T. 2010. EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. Eur J Neurol 17: 641-648.
-
(2010)
Eur J Neurol
, vol.17
, pp. 641-648
-
-
Burgunder, J.M.1
Finsterer, J.2
Szolnoki, Z.3
Fontaine, B.4
Baets, J.5
Van Broeckhoven, C.6
Di Donato, S.7
de Jonghe, P.8
Lynch, T.9
Mariotti, C.10
Schols, L.11
Spinazzola, A.12
Tabrizi, S.J.13
Tallaksen, C.14
Zeviani, M.15
Harbo, H.F.16
Gasser, T.17
-
23
-
-
80052924149
-
Motor neuron dysfunction in frontotemporal dementia
-
Burrell JR, Kiernan MC, Vucic S, Hodges JR. 2011. Motor neuron dysfunction in frontotemporal dementia. Brain 134: 2582-2594.
-
(2011)
Brain
, vol.134
, pp. 2582-2594
-
-
Burrell, J.R.1
Kiernan, M.C.2
Vucic, S.3
Hodges, J.R.4
-
24
-
-
0033358671
-
Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
-
Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. 1999. Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 65: 664-670.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 664-670
-
-
Campion, D.1
Dumanchin, C.2
Hannequin, D.3
Dubois, B.4
Belliard, S.5
Puel, M.6
Thomas-Anterion, C.7
Michon, A.8
Martin, C.9
Charbonnier, F.10
Raux, G.11
Camuzat, A.12
Penet, C.13
Mesnage, V.14
Martinez, M.15
Clerget-Darpoux, F.16
Brice, A.17
Frebourg, T.18
-
25
-
-
36849017920
-
De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia
-
Cannella M, Martino T, Simonelli M, Ciammola A, Gradini R, Ciarmiello A, Gianfrancesco F, Squitieri F. 2007. De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. J Neurol Neurosurg Psychiatry 78: 1411-1413.
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 1411-1413
-
-
Cannella, M.1
Martino, T.2
Simonelli, M.3
Ciammola, A.4
Gradini, R.5
Ciarmiello, A.6
Gianfrancesco, F.7
Squitieri, F.8
-
26
-
-
70350618915
-
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease
-
Carecchio M, Fenoglio C, de Riz M, Guidi I, Comi C, Cortini F, Venturelli E, Restelli I, Cantoni C, Bresolin N, Monaco F, Scarpini E, Galimberti D. 2009. Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease. J Neurol Sci 287: 291-293.
-
(2009)
J Neurol Sci
, vol.287
, pp. 291-293
-
-
Carecchio, M.1
Fenoglio, C.2
de Riz, M.3
Guidi, I.4
Comi, C.5
Cortini, F.6
Venturelli, E.7
Restelli, I.8
Cantoni, C.9
Bresolin, N.10
Monaco, F.11
Scarpini, E.12
Galimberti, D.13
-
27
-
-
0028145428
-
The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation
-
Chapman J, Ben-Israel J, Goldhammer Y, Korczyn AD. 1994. The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation. Neurology 44: 1683-1686.
-
(1994)
Neurology
, vol.44
, pp. 1683-1686
-
-
Chapman, J.1
Ben-Israel, J.2
Goldhammer, Y.3
Korczyn, A.D.4
-
28
-
-
79953879390
-
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
-
Chen-Plotkin AS, Martinez-Lage M, Sleiman PMA, Hu W, Greene R, Wood EM, Bing S, Grossman M, Schellenberg GD, Hatanpaa KJ, Weiner MF, White CL, Brooks WS, Halliday GM, Kril JJ, Gearing M, Beach TG, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Pickering-Brown SM, Snowden J, van Swieten JC, Heutink P, Seelaar H, Murrell JR, Ghetti B, Spina S, Grafman J, Kaye JA, Woltjer RL, Mesulam M, Bigio E, Llado A, Miller BL, Alzualde A, Moreno F, Rohrer JD, Mackenzie IRA, Feldman HH, Hamilton RL, Cruts M, Engelborghs S, de Deyn PP, Van Broeckhoven C, Bird TD, Cairns NJ, Goate A, Frosch MP, Riederer PF, Bogdanovic N, Lee VMY, Trojanowski JQ, Van Deerlin VM. 2011. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 68: 488-497.
-
(2011)
Arch Neurol
, vol.68
, pp. 488-497
-
-
Chen-Plotkin, A.S.1
Martinez-Lage, M.2
Sleiman, P.M.A.3
Hu, W.4
Greene, R.5
Wood, E.M.6
Bing, S.7
Grossman, M.8
Schellenberg, G.D.9
Hatanpaa, K.J.10
Weiner, M.F.11
White, C.L.12
Brooks, W.S.13
Halliday, G.M.14
Kril, J.J.15
Gearing, M.16
Beach, T.G.17
Graff-Radford, N.R.18
Dickson, D.W.19
Rademakers, R.20
Boeve, B.F.21
Pickering-Brown, S.M.22
Snowden, J.23
van Swieten, J.C.24
Heutink, P.25
Seelaar, H.26
Murrell, J.R.27
Ghetti, B.28
Spina, S.29
Grafman, J.30
Kaye, J.A.31
Woltjer, R.L.32
Mesulam, M.33
Bigio, E.34
Llado, A.35
Miller, B.L.36
Alzualde, A.37
Moreno, F.38
Rohrer, J.D.39
Mackenzie, I.R.A.40
Feldman, H.H.41
Hamilton, R.L.42
Cruts, M.43
Engelborghs, S.44
de Deyn, P.P.45
Van Broeckhoven, C.46
Bird, T.D.47
Cairns, N.J.48
Goate, A.49
Frosch, M.P.50
Riederer, P.F.51
Bogdanovic, N.52
Lee, V.M.Y.53
Trojanowski, J.Q.54
Van Deerlin, V.M.55
more..
-
29
-
-
40949088178
-
Incorporating ethnicity into genetic risk assessment for Alzheimer disease: The REVEAL study experience
-
Christensen KD, Roberts JS, Royal CDM, Fasaye GA, Obisesan T, Cupples LA, Whitehouse PJ, Butson MB, Linnenbringer E, Relkin NR, Farrer L, Cook-Deegan R, Green RC. 2008. Incorporating ethnicity into genetic risk assessment for Alzheimer disease: The REVEAL study experience. Genet Med 10: 207-214.
-
(2008)
Genet Med
, vol.10
, pp. 207-214
-
-
Christensen, K.D.1
Roberts, J.S.2
Royal, C.D.M.3
Fasaye, G.A.4
Obisesan, T.5
Cupples, L.A.6
Whitehouse, P.J.7
Butson, M.B.8
Linnenbringer, E.9
Relkin, N.R.10
Farrer, L.11
Cook-Deegan, R.12
Green, R.C.13
-
30
-
-
0029115555
-
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group
-
Clark RF, Hutton M, Fuldner M, Froelich S, Karran E, Talbot C, Crook R, Lendon C, Prihar G, He C, Korenblat K, Martinez A, Wragg W, Busfield F, Behrens MI, Myers A, Norton J, Morris J, Mehta N, Pearson C, Lincoln S, Baker M, Duff K, Zehr C, Perez-Tur J, Houlden H, Ruiz A, Ossa J, Lopera F, Acros M, Madrigal L, Collinge J, Humphreys C, Ashwordth A, Sarner S, Fox N, Harvey R, Kennedy A, Roques P, Cline RT, Philips CA, Venter JC, Forsell L, Axelman K, Lilius L, Johnston J, Cowburn R, Viitanen M, Winblad B, Kosik K, Haltia M, Poyhonen M, Dickson D, Mann D, Neary D, Snowden J, Lantos P, Lannfelt L, Rossor M, Roberts GW, Adams MD, Hardy J, Goate A. 1995. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group. Nat Genet 11: 219-222.
-
(1995)
Nat Genet
, vol.11
, pp. 219-222
-
-
Clark, R.F.1
Hutton, M.2
Fuldner, M.3
Froelich, S.4
Karran, E.5
Talbot, C.6
Crook, R.7
Lendon, C.8
Prihar, G.9
He, C.10
Korenblat, K.11
Martinez, A.12
Wragg, W.13
Busfield, F.14
Behrens, M.I.15
Myers, A.16
Norton, J.17
Morris, J.18
Mehta, N.19
Pearson, C.20
Lincoln, S.21
Baker, M.22
Duff, K.23
Zehr, C.24
Perez-Tur, J.25
Houlden, H.26
Ruiz, A.27
Ossa, J.28
Lopera, F.29
Acros, M.30
Madrigal, L.31
Collinge, J.32
Humphreys, C.33
Ashwordth, A.34
Sarner, S.35
Fox, N.36
Harvey, R.37
Kennedy, A.38
Roques, P.39
Cline, R.T.40
Philips, C.A.41
Venter, J.C.42
Forsell, L.43
Axelman, K.44
Lilius, L.45
Johnston, J.46
Cowburn, R.47
Viitanen, M.48
Winblad, B.49
Kosik, K.50
Haltia, M.51
Poyhonen, M.52
Dickson, D.53
Mann, D.54
Neary, D.55
Snowden, J.56
Lantos, P.57
Lannfelt, L.58
Rossor, M.59
Roberts, G.W.60
Adams, M.D.61
Hardy, J.62
Goate, A.63
more..
-
31
-
-
77956392186
-
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
-
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ. 2010. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS ONE 5: e9872.
-
(2010)
PLoS ONE
, vol.5
-
-
Cox, L.E.1
Ferraiuolo, L.2
Goodall, E.F.3
Heath, P.R.4
Higginbottom, A.5
Mortiboys, H.6
Hollinger, H.C.7
Hartley, J.A.8
Brockington, A.9
Burness, C.E.10
Morrison, K.E.11
Wharton, S.B.12
Grierson, A.J.13
Ince, P.G.14
Kirby, J.15
Shaw, P.J.16
-
32
-
-
6844255860
-
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
-
Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van BC. 1998. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet 7: 43-51.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 43-51
-
-
Cruts, M.1
van Duijn, C.M.2
Backhovens, H.3
Van den Broeck, M.4
Wehnert, A.5
Serneels, S.6
Sherrington, R.7
Hutton, M.8
Hardy, J.9
St George-Hyslop, P.H.10
Hofman, A.11
Van, B.C.12
-
33
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, de Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, de Deyn PP, Kumar-Singh S, Van Broeckhoven C. 2006. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442: 920-924.
-
(2006)
Nature
, vol.442
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
van der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.J.10
van Duijn, C.11
Peeters, K.12
Sciot, R.13
Santens, P.14
de Pooter, T.15
Mattheijssens, M.16
Van den Broeck, M.17
Cuijt, I.18
Vennekens, K.19
de Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
34
-
-
0036715106
-
Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
-
Dagvadorj A, Petersen RB, Lee HS, Cervenakova L, Shatunov A, Budka H, Brown P, Gambetti P, Goldfarb LG. 2002. Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. Ann Neurol 52: 355-359.
-
(2002)
Ann Neurol
, vol.52
, pp. 355-359
-
-
Dagvadorj, A.1
Petersen, R.B.2
Lee, H.S.3
Cervenakova, L.4
Shatunov, A.5
Budka, H.6
Brown, P.7
Gambetti, P.8
Goldfarb, L.G.9
-
35
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. 2011. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256.
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.Y.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
36
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-ons and ALS/dementia
-
Deng H, Chen W, Hong S, Boycott K, Gorrie G, Siddique N, Yang Y, Fecto F, Shi y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen G, Donkervoort S, Bigio E, Brooks B, Ajroud K, Sufit R, Haines J, Mugnaini E, Pericak-Vance M, Siddique T. 2011. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477: 211-215.
-
(2011)
Nature
, vol.477
, pp. 211-215
-
-
Deng, H.1
Chen, W.2
Hong, S.3
Boycott, K.4
Gorrie, G.5
Siddique, N.6
Yang, Y.7
Fecto, F.8
Shi y9
Zhai, H.10
Jiang, H.11
Hirano, M.12
Rampersaud, E.13
Jansen, G.14
Donkervoort, S.15
Bigio, E.16
Brooks, B.17
Ajroud, K.18
Sufit, R.19
Haines, J.20
Mugnaini, E.21
Pericak-Vance, M.22
Siddique, T.23
more..
-
37
-
-
11144357241
-
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques
-
Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, Van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van BC, de Deyn PP. 2004. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 55: 617-626.
-
(2004)
Ann Neurol
, vol.55
, pp. 617-626
-
-
Dermaut, B.1
Kumar-Singh, S.2
Engelborghs, S.3
Theuns, J.4
Rademakers, R.5
Saerens, J.6
Pickut, B.A.7
Peeters, K.8
Van den Broeck, M.9
Vennekens, K.10
Claes, S.11
Cruts, M.12
Cras, P.13
Martin, J.J.14
Van, B.C.15
de Deyn, P.P.16
-
38
-
-
0033970929
-
Familial aggregation of Alzheimer disease among whites, African Americans, and Caribbean Hispanics in northern Manhattan
-
Devi G, Ottman R, Tang MX, Marder K, Stern Y, Mayeux R. 2000. Familial aggregation of Alzheimer disease among whites, African Americans, and Caribbean Hispanics in northern Manhattan. Arch Neurol 57: 72-77.
-
(2000)
Arch Neurol
, vol.57
, pp. 72-77
-
-
Devi, G.1
Ottman, R.2
Tang, M.X.3
Marder, K.4
Stern, Y.5
Mayeux, R.6
-
39
-
-
33847062118
-
Amyloid, hypometabolism, and cognition in Alzheimer disease: An [11C]PIB and [18F]FDG PET study
-
Edison P, Archer HA, Hinz R, Hammers A, Pavese N, Tai YF, Hotton G, Cutler D, Fox N, Kennedy A, Rossor M, Brooks DJ. 2007. Amyloid, hypometabolism, and cognition in Alzheimer disease: An [11C]PIB and [18F]FDG PET study. Neurology 68: 501-508.
-
(2007)
Neurology
, vol.68
, pp. 501-508
-
-
Edison, P.1
Archer, H.A.2
Hinz, R.3
Hammers, A.4
Pavese, N.5
Tai, Y.F.6
Hotton, G.7
Cutler, D.8
Fox, N.9
Kennedy, A.10
Rossor, M.11
Brooks, D.J.12
-
40
-
-
0034925303
-
Genetic epidemiology of Creutzfeldt-Jakob disease in Europe
-
EUROCJD.
-
EUROCJD. 2001. Genetic epidemiology of Creutzfeldt-Jakob disease in Europe. Rev Neurol (Paris) 157: 633-637.
-
(2001)
Rev Neurol (Paris)
, vol.157
, pp. 633-637
-
-
-
41
-
-
0035072923
-
Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations
-
Fabre SF, Forsell C, Viitanen M, Sjogren M, Wallin A, Blennow K, Blomberg M, Andersen C, Wahlund LO, Lannfelt L. 2001. Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations. Exp Neurol 168: 413-418.
-
(2001)
Exp Neurol
, vol.168
, pp. 413-418
-
-
Fabre, S.F.1
Forsell, C.2
Viitanen, M.3
Sjogren, M.4
Wallin, A.5
Blennow, K.6
Blomberg, M.7
Andersen, C.8
Wahlund, L.O.9
Lannfelt, L.10
-
42
-
-
80855130688
-
Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia
-
Fecto F, Siddique T. 2011. Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia. J Mol Neurosci 45: 663-675.
-
(2011)
J Mol Neurosci
, vol.45
, pp. 663-675
-
-
Fecto, F.1
Siddique, T.2
-
43
-
-
64849103956
-
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
-
Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, Bisceglio G, Rovelet-Lecrux A, Boeve B, Petersen RC, Dickson DW, Younkin SG, Deramecourt V, Crook J, Graff-Radford NR, Rademakers R. 2009. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 132: 583-591.
-
(2009)
Brain
, vol.132
, pp. 583-591
-
-
Finch, N.1
Baker, M.2
Crook, R.3
Swanson, K.4
Kuntz, K.5
Surtees, R.6
Bisceglio, G.7
Rovelet-Lecrux, A.8
Boeve, B.9
Petersen, R.C.10
Dickson, D.W.11
Younkin, S.G.12
Deramecourt, V.13
Crook, J.14
Graff-Radford, N.R.15
Rademakers, R.16
-
44
-
-
0033909535
-
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
-
Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A. 2000. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet 66: 110-117.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 110-117
-
-
Finckh, U.1
Muller-Thomsen, T.2
Mann, U.3
Eggers, C.4
Marksteiner, J.5
Meins, W.6
Binetti, G.7
Alberici, A.8
Hock, C.9
Nitsch, R.M.10
Gal, A.11
-
45
-
-
33749568019
-
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
-
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL III, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. 2006. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15: 2988-3001.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2988-3001
-
-
Gass, J.1
Cannon, A.2
Mackenzie, I.R.3
Boeve, B.4
Baker, M.5
Adamson, J.6
Crook, R.7
Melquist, S.8
Kuntz, K.9
Petersen, R.10
Josephs, K.11
Pickering-Brown, S.M.12
Graff-Radford, N.13
Uitti, R.14
Dickson, D.15
Wszolek, Z.16
Gonzalez, J.17
Beach, T.G.18
Bigio, E.19
Johnson, N.20
Weintraub, S.21
Mesulam, M.22
White III, C.L.23
Woodruff, B.24
Caselli, R.25
Hsiung, G.Y.26
Feldman, H.27
Knopman, D.28
Hutton, M.29
Rademakers, R.30
more..
-
46
-
-
32244435907
-
Role of genes and environments for explaining Alzheimer disease
-
Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S, Fiske A, Pedersen NL. 2006. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 63: 168-174.
-
(2006)
Arch Gen Psychiatry
, vol.63
, pp. 168-174
-
-
Gatz, M.1
Reynolds, C.A.2
Fratiglioni, L.3
Johansson, B.4
Mortimer, J.A.5
Berg, S.6
Fiske, A.7
Pedersen, N.L.8
-
47
-
-
80052070571
-
APOE and Alzheimer disease: A major gene with semi-dominant inheritance
-
Genin E, Hannequin D, Wallon D, Sleegers K, Hiltunen M, Combarros O, Bullido MJ, Engelborghs S, de Deyn P, Berr C, Pasquier F, Dubois B, Tognoni G, Fievet N, Brouwers N, Bettens K, Arosio B, Coto E, Del Zompo M, Mateo I, Epelbaum J, Frank-Garcia A, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Valdivieso F, Vepsalainen S, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossu P, Hanon O, Piccardi P, Annoni G, Seripa D, Galimberti D, Licastro F, Soininen H, Dartigues JF, Kamboh MI, Van Broeckhoven C, Lambert JC, Amouyel P, Campion D. 2011. APOE and Alzheimer disease: A major gene with semi-dominant inheritance. Mol Psychiatry 16: 903-907.
-
(2011)
Mol Psychiatry
, vol.16
, pp. 903-907
-
-
Genin, E.1
Hannequin, D.2
Wallon, D.3
Sleegers, K.4
Hiltunen, M.5
Combarros, O.6
Bullido, M.J.7
Engelborghs, S.8
de Deyn, P.9
Berr, C.10
Pasquier, F.11
Dubois, B.12
Tognoni, G.13
Fievet, N.14
Brouwers, N.15
Bettens, K.16
Arosio, B.17
Coto, E.18
Del Zompo, M.19
Mateo, I.20
Epelbaum, J.21
Frank-Garcia, A.22
Helisalmi, S.23
Porcellini, E.24
Pilotto, A.25
Forti, P.26
Ferri, R.27
Scarpini, E.28
Siciliano, G.29
Solfrizzi, V.30
Sorbi, S.31
Spalletta, G.32
Valdivieso, F.33
Vepsalainen, S.34
Alvarez, V.35
Bosco, P.36
Mancuso, M.37
Panza, F.38
Nacmias, B.39
Bossu, P.40
Hanon, O.41
Piccardi, P.42
Annoni, G.43
Seripa, D.44
Galimberti, D.45
Licastro, F.46
Soininen, H.47
Dartigues, J.F.48
Kamboh, M.I.49
Van Broeckhoven, C.50
Lambert, J.C.51
Amouyel, P.52
Campion, D.53
more..
-
48
-
-
54449085260
-
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
-
Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G. 2008. Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71: 1235-1239.
-
(2008)
Neurology
, vol.71
, pp. 1235-1239
-
-
Ghidoni, R.1
Benussi, L.2
Glionna, M.3
Franzoni, M.4
Binetti, G.5
-
49
-
-
67349161628
-
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
-
Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, de Pooter T, Del-Favero J, Santens P, de Jonghe P, de Deyn PP, Van Broeckhoven C, Cruts M. 2009. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging 30: 1329-1331.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1329-1331
-
-
Gijselinck, I.1
Sleegers, K.2
Engelborghs, S.3
Robberecht, W.4
Martin, J.J.5
Vandenberghe, R.6
Sciot, R.7
Dermaut, B.8
Goossens, D.9
van der Zee, J.10
de Pooter, T.11
Del-Favero, J.12
Santens, P.13
de Jonghe, P.14
de Deyn, P.P.15
Van Broeckhoven, C.16
Cruts, M.17
-
50
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study
-
Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C. 2012. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study. Lancet Neurol 11: 54-65.
-
(2012)
Lancet Neurol
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
van der Zee, J.3
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
Janssens, J.7
Bettens, K.8
Van Cauwenberghe, C.9
Pereson, S.10
Engelborghs, S.11
Sieben, A.12
De Jonghe, P.13
Vandenberghe, R.14
Santens, P.15
De Bleecker, J.16
Maes, G.17
Baumer, V.18
Dillen, L.19
Joris, G.20
Cuijt, I.21
Corsmit, E.22
Elinck, E.23
Van Dongen, J.24
Vermeulen, S.25
Van den Broeck, M.26
Vaerenberg, C.27
Mattheijssens, M.28
Peeters, K.29
Robberecht, W.30
Cras, P.31
Martin, J.J.32
De Deyn, P.P.33
Cruts, M.34
Van Broeckhoven, C.35
more..
-
51
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L. 1991. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704-706.
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
Chartier-Harlin, M.C.2
Mullan, M.3
Brown, J.4
Crawford, F.5
Fidani, L.6
Giuffra, L.7
Haynes, A.8
Irving, N.9
James, L.10
-
52
-
-
36048971705
-
Early-onsheimer's disease with a de novo mutation in the presenilin 1 gene
-
Golan MP, Styczynska M, Jozwiak K, Walecki J, Maruszak A, Pniewski J, Lugiewicz R, Filipek S, Zekanowski C, Barcikowska M. 2007. Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene. Exp Neurol 208: 264-268.
-
(2007)
Exp Neurol
, vol.208
, pp. 264-268
-
-
Golan, M.P.1
Styczynska, M.2
Jozwiak, K.3
Walecki, J.4
Maruszak, A.5
Pniewski, J.6
Lugiewicz, R.7
Filipek, S.8
Zekanowski, C.9
Barcikowska, M.10
-
53
-
-
33645078169
-
Comparison of family histories in FTLD subtypes and related tauopathies
-
Goldman JS, Farmer JM, Wood EM, Johnson JK, Boxer A, Neuhaus J, Lomen-Hoerth C, Wilhelmsen KC, Lee VMY, Grossman M, Miller BL. 2005. Comparison of family histories in FTLD subtypes and related tauopathies. Neurology 65: 1817-1819.
-
(2005)
Neurology
, vol.65
, pp. 1817-1819
-
-
Goldman, J.S.1
Farmer, J.M.2
Wood, E.M.3
Johnson, J.K.4
Boxer, A.5
Neuhaus, J.6
Lomen-Hoerth, C.7
Wilhelmsen, K.C.8
Lee, V.M.Y.9
Grossman, M.10
Miller, B.L.11
-
54
-
-
79959193198
-
Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
-
Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeux R, Bird T. 2011. Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med 13: 597-605.
-
(2011)
Genet Med
, vol.13
, pp. 597-605
-
-
Goldman, J.S.1
Hahn, S.E.2
Catania, J.W.3
LaRusse-Eckert, S.4
Butson, M.B.5
Rumbaugh, M.6
Strecker, M.N.7
Roberts, J.S.8
Burke, W.9
Mayeux, R.10
Bird, T.11
-
55
-
-
79952823979
-
Classification of primary progressive aphasia and its variants
-
Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, Ogar JM, Rohrer JD, Black S, Boeve BF, Manes F, Dronkers NF, Vandenberghe R, Rascovsky K, Patterson K, Miller BL, Knopman DS, Hodges JR, Mesulam MM, Grossman M. 2011. Classification of primary progressive aphasia and its variants. Neurology 76: 1006-1014.
-
(2011)
Neurology
, vol.76
, pp. 1006-1014
-
-
Gorno-Tempini, M.L.1
Hillis, A.E.2
Weintraub, S.3
Kertesz, A.4
Mendez, M.5
Cappa, S.F.6
Ogar, J.M.7
Rohrer, J.D.8
Black, S.9
Boeve, B.F.10
Manes, F.11
Dronkers, N.F.12
Vandenberghe, R.13
Rascovsky, K.14
Patterson, K.15
Miller, B.L.16
Knopman, D.S.17
Hodges, J.R.18
Mesulam, M.M.19
Grossman, M.20
more..
-
56
-
-
0034982951
-
Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy
-
Grabowski TJ, Cho HS, Vonsattel JP, Rebeck GW, Greenberg SM. 2001. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann Neurol 49: 697-705.
-
(2001)
Ann Neurol
, vol.49
, pp. 697-705
-
-
Grabowski, T.J.1
Cho, H.S.2
Vonsattel, J.P.3
Rebeck, G.W.4
Greenberg, S.M.5
-
57
-
-
0037116658
-
Risk of dementia among white and African American relatives of patients with Alzheimer disease
-
Green RC, Cupples LA, Go R, Benke KS, Edeki T, Griffith PA, Williams M, Hipps Y, Graff-Radford N, Bachman D, Farrer LA. 2002. Risk of dementia among white and African American relatives of patients with Alzheimer disease. JAMA 287: 329-336.
-
(2002)
JAMA
, vol.287
, pp. 329-336
-
-
Green, R.C.1
Cupples, L.A.2
Go, R.3
Benke, K.S.4
Edeki, T.5
Griffith, P.A.6
Williams, M.7
Hipps, Y.8
Graff-Radford, N.9
Bachman, D.10
Farrer, L.A.11
-
58
-
-
67650925282
-
Disclosure of APOE genotype for risk of Alzheimer's disease
-
Green RC, Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Brown T, Eckert SL, Butson M, Sadovnick AD, Quaid KA, Chen C, Cook-Deegan R, Farrer LA. 2009. Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med 361: 245-254.
-
(2009)
N Engl J Med
, vol.361
, pp. 245-254
-
-
Green, R.C.1
Roberts, J.S.2
Cupples, L.A.3
Relkin, N.R.4
Whitehouse, P.J.5
Brown, T.6
Eckert, S.L.7
Butson, M.8
Sadovnick, A.D.9
Quaid, K.A.10
Chen, C.11
Cook-Deegan, R.12
Farrer, L.A.13
-
59
-
-
19944428327
-
Pick bodies in a family with presenilin-1 Alzheimer's disease
-
Halliday GM, Song YJ, Lepar G, Brooks WS, Kwok JB, Kersaitis C, Gregory G, Shepherd CE, Rahimi F, Schofield PR, Kril JJ. 2005. Pick bodies in a family with presenilin-1 Alzheimer's disease. Ann Neurol 57: 139-143.
-
(2005)
Ann Neurol
, vol.57
, pp. 139-143
-
-
Halliday, G.M.1
Song, Y.J.2
Lepar, G.3
Brooks, W.S.4
Kwok, J.B.5
Kersaitis, C.6
Gregory, G.7
Shepherd, C.E.8
Rahimi, F.9
Schofield, P.R.10
Kril, J.J.11
-
60
-
-
0026597063
-
Alzheimer's disease: The amyloid cascade hypothesis
-
Hardy JA, Higgins GA. 1992. Alzheimer's disease: The amyloid cascade hypothesis. Science 256: 184-185.
-
(1992)
Science
, vol.256
, pp. 184-185
-
-
Hardy, J.A.1
Higgins, G.A.2
-
61
-
-
0037135111
-
The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics
-
Hardy J, Selkoe DJ. 2002. The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science 297: 353-356.
-
(2002)
Science
, vol.297
, pp. 353-356
-
-
Hardy, J.1
Selkoe, D.J.2
-
62
-
-
70349558522
-
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
-
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schurmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frolich L, Hampel H, Hull M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, de Deyn PP, Van BC, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Muhleisen TW, Nothen MM, Moebus S, Jockel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J. 2009. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41: 1088-1093.
-
(2009)
Nat Genet
, vol.41
, pp. 1088-1093
-
-
Harold, D.1
Abraham, R.2
Hollingworth, P.3
Sims, R.4
Gerrish, A.5
Hamshere, M.L.6
Pahwa, J.S.7
Moskvina, V.8
Dowzell, K.9
Williams, A.10
Jones, N.11
Thomas, C.12
Stretton, A.13
Morgan, A.R.14
Lovestone, S.15
Powell, J.16
Proitsi, P.17
Lupton, M.K.18
Brayne, C.19
Rubinsztein, D.C.20
Gill, M.21
Lawlor, B.22
Lynch, A.23
Morgan, K.24
Brown, K.S.25
Passmore, P.A.26
Craig, D.27
McGuinness, B.28
Todd, S.29
Holmes, C.30
Mann, D.31
Smith, A.D.32
Love, S.33
Kehoe, P.G.34
Hardy, J.35
Mead, S.36
Fox, N.37
Rossor, M.38
Collinge, J.39
Maier, W.40
Jessen, F.41
Schurmann, B.42
van den Bussche, H.43
Heuser, I.44
Kornhuber, J.45
Wiltfang, J.46
Dichgans, M.47
Frolich, L.48
Hampel, H.49
Hull, M.50
Rujescu, D.51
Goate, A.M.52
Kauwe, J.S.53
Cruchaga, C.54
Nowotny, P.55
Morris, J.C.56
Mayo, K.57
Sleegers, K.58
Bettens, K.59
Engelborghs, S.60
de Deyn, P.P.61
Van, B.C.62
Livingston, G.63
Bass, N.J.64
Gurling, H.65
McQuillin, A.66
Gwilliam, R.67
Deloukas, P.68
Al-Chalabi, A.69
Shaw, C.E.70
Tsolaki, M.71
Singleton, A.B.72
Guerreiro, R.73
Muhleisen, T.W.74
Nothen, M.M.75
Moebus, S.76
Jockel, K.H.77
Klopp, N.78
Wichmann, H.E.79
Carrasquillo, M.M.80
Pankratz, V.S.81
Younkin, S.G.82
Holmans, P.A.83
O'Donovan, M.84
Owen, M.J.85
Williams, J.86
more..
-
64
-
-
56149092961
-
Survival in Alzheimer disease: A multiethnic, population-based study of incident cases
-
Helzner EP, Scarmeas N, Cosentino S, Tang MX, Schupf N, Stern Y. 2008. Survival in Alzheimer disease: A multiethnic, population-based study of incident cases. Neurology 71: 1489-1495.
-
(2008)
Neurology
, vol.71
, pp. 1489-1495
-
-
Helzner, E.P.1
Scarmeas, N.2
Cosentino, S.3
Tang, M.X.4
Schupf, N.5
Stern, Y.6
-
66
-
-
0032837303
-
Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia
-
Houlden H, Baker M, Adamson J, Grover A, Waring S, Dickson D, Lynch T, Boeve B, Petersen RC, Pickering-Brown S, Owen F, Neary D, Craufurd D, Snowden J, Mann D, Hutton M. 1999. Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol 46: 243-248.
-
(1999)
Ann Neurol
, vol.46
, pp. 243-248
-
-
Houlden, H.1
Baker, M.2
Adamson, J.3
Grover, A.4
Waring, S.5
Dickson, D.6
Lynch, T.7
Boeve, B.8
Petersen, R.C.9
Pickering-Brown, S.10
Owen, F.11
Neary, D.12
Craufurd, D.13
Snowden, J.14
Mann, D.15
Hutton, M.16
-
67
-
-
0034971707
-
Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms
-
Hutton M. 2001. Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms. Neurology 56: S21-S25.
-
(2001)
Neurology
, vol.56
-
-
Hutton, M.1
-
68
-
-
0032543684
-
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. 1998. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705.
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
Baker, M.4
Froelich, S.5
Houlden, H.6
Pickering-Brown, S.7
Chakraverty, S.8
Isaacs, A.9
Grover, A.10
Hackett, J.11
Adamson, J.12
Lincoln, S.13
Dickson, D.14
Davies, P.15
Petersen, R.C.16
Stevens, M.17
de Graaff, E.18
Wauters, E.19
van Baren, J.20
Hillebrand, M.21
Joosse, M.22
Kwon, J.M.23
Nowotny, P.24
Che, L.K.25
Norton, J.26
Morris, J.C.27
Reed, L.A.28
Trojanowski, J.29
Basun, H.30
Lannfelt, L.31
Neystat, M.32
Fahn, S.33
Dark, F.34
Tannenberg, T.35
Dodd, P.R.36
Hayward, N.37
Kwok, J.B.38
Schofield, P.R.39
Andreadis, A.40
Snowden, J.41
Craufurd, D.42
Neary, D.43
Owen, F.44
Oostra, B.A.45
Hardy, J.46
Goate, A.47
van Swieten, J.48
Mann, D.49
Lynch, T.50
Heutink, P.51
more..
-
69
-
-
68749086164
-
Prevalence and causes of early-onset dementia in Japan: A population-based study
-
Ikejima C, Yasuno F, Mizukami K, Sasaki M, Tanimukai S, Asada T. 2009. Prevalence and causes of early-onset dementia in Japan: A population-based study. Stroke 40: 2709-2714.
-
(2009)
Stroke
, vol.40
, pp. 2709-2714
-
-
Ikejima, C.1
Yasuno, F.2
Mizukami, K.3
Sasaki, M.4
Tanimukai, S.5
Asada, T.6
-
70
-
-
66549106850
-
Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: Implications for sequence of pathological events in Alzheimer's disease
-
Jack CRJ, Lowe VJ, Weigand SD, Wiste HJ, Senjem ML, Knopman DS, Shiung MM, Gunter JL, Boeve BF, Kemp BJ, Weiner M, Petersen RC. 2009. Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: Implications for sequence of pathological events in Alzheimer's disease. Brain 132: 1355-1365.
-
(2009)
Brain
, vol.132
, pp. 1355-1365
-
-
Jack, C.R.J.1
Lowe, V.J.2
Weigand, S.D.3
Wiste, H.J.4
Senjem, M.L.5
Knopman, D.S.6
Shiung, M.M.7
Gunter, J.L.8
Boeve, B.F.9
Kemp, B.J.10
Weiner, M.11
Petersen, R.C.12
-
71
-
-
79961022129
-
A second case of Gerstmann-Straussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient
-
Jansen C, Parchi P, Capellari S, Strammiello R, Dopper EGP, van Swieten JC, Kamphorst W, Rozemuller AJM. 2011. A second case of Gerstmann-Straussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient. J Neuropathol Exp Neurol 70: 698-702.
-
(2011)
J Neuropathol Exp Neurol
, vol.70
, pp. 698-702
-
-
Jansen, C.1
Parchi, P.2
Capellari, S.3
Strammiello, R.4
Dopper, E.G.P.5
van Swieten, J.C.6
Kamphorst, W.7
Rozemuller, A.J.M.8
-
72
-
-
0037469171
-
Early onset familial Alzheimer's disease: Mutation frequency in 31 families
-
Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. 2003. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology 60: 235-239.
-
(2003)
Neurology
, vol.60
, pp. 235-239
-
-
Janssen, J.C.1
Beck, J.A.2
Campbell, T.A.3
Dickinson, A.4
Fox, N.C.5
Harvey, R.J.6
Houlden, H.7
Rossor, M.N.8
Collinge, J.9
-
73
-
-
77950815769
-
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
-
Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, Bird TD. 2010. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain 133: 1143-1154.
-
(2010)
Brain
, vol.133
, pp. 1143-1154
-
-
Jayadev, S.1
Leverenz, J.B.2
Steinbart, E.3
Stahl, J.4
Klunk, W.5
Yu, C.E.6
Bird, T.D.7
-
74
-
-
79955397626
-
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype
-
Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB. 2011. Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol 69: 712-720.
-
(2011)
Ann Neurol
, vol.69
, pp. 712-720
-
-
Jayadev, S.1
Nochlin, D.2
Poorkaj, P.3
Steinbart, E.J.4
Mastrianni, J.A.5
Montine, T.J.6
Ghetti, B.7
Schellenberg, G.D.8
Bird, T.D.9
Leverenz, J.B.10
-
75
-
-
0035849489
-
Presenilin-1-associated abnormalities in regional cerebral perfusion
-
Johnson KA, Lopera F, Jones K, Becker A, Sperling R, Hilson J, Londono J, Siegert I, Arcos M, Moreno S, Madrigal L, Ossa J, Pineda N, Ardila A, Roselli M, Albert MS, Kosik KS, Rios A. 2001. Presenilin-1-associated abnormalities in regional cerebral perfusion. Neurology 56: 1545-1551.
-
(2001)
Neurology
, vol.56
, pp. 1545-1551
-
-
Johnson, K.A.1
Lopera, F.2
Jones, K.3
Becker, A.4
Sperling, R.5
Hilson, J.6
Londono, J.7
Siegert, I.8
Arcos, M.9
Moreno, S.10
Madrigal, L.11
Ossa, J.12
Pineda, N.13
Ardila, A.14
Roselli, M.15
Albert, M.S.16
Kosik, K.S.17
Rios, A.18
-
76
-
-
20844443269
-
Frontotemporal lobar degeneration: Demographic characteristics of 353 patients
-
Johnson JK, Diehl J, Mendez MF, Neuhaus J, Shapira JS, Forman M, Chute DJ, Roberson ED, Pace-Savitsky C, Neumann M, Chow TW, Rosen HJ, Forstl H, Kurz A, Miller BL. 2005. Frontotemporal lobar degeneration: Demographic characteristics of 353 patients. Arch Neurol 62: 925-930.
-
(2005)
Arch Neurol
, vol.62
, pp. 925-930
-
-
Johnson, J.K.1
Diehl, J.2
Mendez, M.F.3
Neuhaus, J.4
Shapira, J.S.5
Forman, M.6
Chute, D.J.7
Roberson, E.D.8
Pace-Savitsky, C.9
Neumann, M.10
Chow, T.W.11
Rosen, H.J.12
Forstl, H.13
Kurz, A.14
Miller, B.L.15
-
77
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurro MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, Galassi G, Scholz SW, Taylor JP, Restagno G, Chio A, Traynor BJ. 2010. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
Van Deerlin, V.M.5
Trojanowski, J.Q.6
Gibbs, J.R.7
Brunetti, M.8
Gronka, S.9
Wuu, J.10
Ding, J.11
McCluskey, L.12
Martinez-Lage, M.13
Falcone, D.14
Hernandez, D.G.15
Arepalli, S.16
Chong, S.17
Schymick, J.C.18
Rothstein, J.19
Landi, F.20
Wang, Y.D.21
Calvo, A.22
Mora, G.23
Sabatelli, M.24
Monsurro, M.R.25
Battistini, S.26
Salvi, F.27
Spataro, R.28
Sola, P.29
Borghero, G.30
Galassi, G.31
Scholz, S.W.32
Taylor, J.P.33
Restagno, G.34
Chio, A.35
Traynor, B.J.36
more..
-
78
-
-
77957909886
-
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes
-
Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD. 2010. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol 67: 1473-1484.
-
(2010)
Arch Neurol
, vol.67
, pp. 1473-1484
-
-
Jun, G.1
Naj, A.C.2
Beecham, G.W.3
Wang, L.S.4
Buros, J.5
Gallins, P.J.6
Buxbaum, J.D.7
Ertekin-Taner, N.8
Fallin, M.D.9
Friedland, R.10
Inzelberg, R.11
Kramer, P.12
Rogaeva, E.13
St George-Hyslop, P.14
Cantwell, L.B.15
Dombroski, B.A.16
Saykin, A.J.17
Reiman, E.M.18
Bennett, D.A.19
Morris, J.C.20
Lunetta, K.L.21
Martin, E.R.22
Montine, T.J.23
Goate, A.M.24
Blacker, D.25
Tsuang, D.W.26
Beekly, D.27
Cupples, L.A.28
Hakonarson, H.29
Kukull, W.30
Foroud, T.M.31
Haines, J.32
Mayeux, R.33
Farrer, L.A.34
Pericak-Vance, M.A.35
Schellenberg, G.D.36
more..
-
79
-
-
58549092073
-
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland
-
Kaivorinne AL, Kruger J, Kuivaniemi K, Tuominen H, Moilanen V, Majamaa K, Remes AM. 2008. Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland. BMC Neurol 8: 48.
-
(2008)
BMC Neurol
, vol.8
, pp. 48
-
-
Kaivorinne, A.L.1
Kruger, J.2
Kuivaniemi, K.3
Tuominen, H.4
Moilanen, V.5
Majamaa, K.6
Remes, A.M.7
-
80
-
-
34249949113
-
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onsheimer's disease presenilin 1 mutation
-
Kauwe JSK, Jacquart S, Chakraverty S, Wang J, Mayo K, Fagan AM, Holtzman DM, Morris JC, Goate AM. 2007. Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. Ann Neurol 61: 446-453.
-
(2007)
Ann Neurol
, vol.61
, pp. 446-453
-
-
Kauwe, J.S.K.1
Jacquart, S.2
Chakraverty, S.3
Wang, J.4
Mayo, K.5
Fagan, A.M.6
Holtzman, D.M.7
Morris, J.C.8
Goate, A.M.9
-
81
-
-
76149131323
-
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin
-
Kelley BJ, Haidar W, Boeve BF, Baker M, Shiung M, Knopman DS, Rademakers R, Hutton M, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Petersen RC. 2010. Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Arch Neurol 67: 171-177.
-
(2010)
Arch Neurol
, vol.67
, pp. 171-177
-
-
Kelley, B.J.1
Haidar, W.2
Boeve, B.F.3
Baker, M.4
Shiung, M.5
Knopman, D.S.6
Rademakers, R.7
Hutton, M.8
Adamson, J.9
Kuntz, K.M.10
Dickson, D.W.11
Parisi, J.E.12
Smith, G.E.13
Petersen, R.C.14
-
82
-
-
34249984684
-
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees
-
Klunk WE, Price JC, Mathis CA, Tsopelas ND, Lopresti BJ, Ziolko SK, Bi W, Hoge JA, Cohen AD, Ikonomovic MD, Saxton JA, Snitz BE, Pollen DA, Moonis M, Lippa CF, Swearer JM, Johnson KA, Rentz DM, Fischman AJ, Aizenstein HJ, DeKosky ST. 2007. Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. J Neurosci 27: 6174-6184.
-
(2007)
J Neurosci
, vol.27
, pp. 6174-6184
-
-
Klunk, W.E.1
Price, J.C.2
Mathis, C.A.3
Tsopelas, N.D.4
Lopresti, B.J.5
Ziolko, S.K.6
Bi, W.7
Hoge, J.A.8
Cohen, A.D.9
Ikonomovic, M.D.10
Saxton, J.A.11
Snitz, B.E.12
Pollen, D.A.13
Moonis, M.14
Lippa, C.F.15
Swearer, J.M.16
Johnson, K.A.17
Rentz, D.M.18
Fischman, A.J.19
Aizenstein, H.J.20
DeKosky, S.T.21
more..
-
83
-
-
77950349494
-
Early-versus late-onsheimer's disease: More than age alone
-
Koedam ELGE, Lauffer V, van der Vlies AE, van der Flier WM, Scheltens P, Pijnenburg YAL. 2010. Early-versus late-onset Alzheimer's disease: More than age alone. J Alzheimers Dis 19: 1401-1408.
-
(2010)
J Alzheimers Dis
, vol.19
, pp. 1401-1408
-
-
Koedam, E.L.G.E.1
Lauffer, V.2
van der Vlies, A.E.3
van der Flier, W.M.4
Scheltens, P.5
Pijnenburg, Y.A.L.6
-
84
-
-
0036459944
-
Mutations of the prion protein gene phenotypic spectrum
-
Kovacs GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H. 2002. Mutations of the prion protein gene phenotypic spectrum. J Neurol 249: 1567-1582.
-
(2002)
J Neurol
, vol.249
, pp. 1567-1582
-
-
Kovacs, G.G.1
Trabattoni, G.2
Hainfellner, J.A.3
Ironside, J.W.4
Knight, R.S.5
Budka, H.6
-
85
-
-
70350572209
-
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
-
Kovacs GG, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S. 2009. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord 24: 1843-1847.
-
(2009)
Mov Disord
, vol.24
, pp. 1843-1847
-
-
Kovacs, G.G.1
Murrell, J.R.2
Horvath, S.3
Haraszti, L.4
Majtenyi, K.5
Molnar, M.J.6
Budka, H.7
Ghetti, B.8
Spina, S.9
-
86
-
-
70349634909
-
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies
-
Ladogana A, Sanchez-Juan P, Mitrova E, Green A, Cuadrado-Corrales N, Sanchez-Valle R, Koscova S, Aguzzi A, Sklaviadis T, Kulczycki J, Gawinecka J, Saiz A, Calero M, van Duijn CM, Pocchiari M, Knight R, Zerr I. 2009. Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. J Neurol 256: 1620-1628.
-
(2009)
J Neurol
, vol.256
, pp. 1620-1628
-
-
Ladogana, A.1
Sanchez-Juan, P.2
Mitrova, E.3
Green, A.4
Cuadrado-Corrales, N.5
Sanchez-Valle, R.6
Koscova, S.7
Aguzzi, A.8
Sklaviadis, T.9
Kulczycki, J.10
Gawinecka, J.11
Saiz, A.12
Calero, M.13
van Duijn, C.M.14
Pocchiari, M.15
Knight, R.16
Zerr, I.17
-
87
-
-
78549264026
-
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
-
Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fievet N, Barberger-Gateau P, Engelborghs S, de Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossu P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanche H, Dartigues JF, Tzourio C, Gut I, Van BC, Alperovitch A, Lathrop M, Amouyel P. 2009. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 41: 1094-1099.
-
(2009)
Nat Genet
, vol.41
, pp. 1094-1099
-
-
Lambert, J.C.1
Heath, S.2
Even, G.3
Campion, D.4
Sleegers, K.5
Hiltunen, M.6
Combarros, O.7
Zelenika, D.8
Bullido, M.J.9
Tavernier, B.10
Letenneur, L.11
Bettens, K.12
Berr, C.13
Pasquier, F.14
Fievet, N.15
Barberger-Gateau, P.16
Engelborghs, S.17
de Deyn, P.18
Mateo, I.19
Franck, A.20
Helisalmi, S.21
Porcellini, E.22
Hanon, O.23
de Pancorbo, M.M.24
Lendon, C.25
Dufouil, C.26
Jaillard, C.27
Leveillard, T.28
Alvarez, V.29
Bosco, P.30
Mancuso, M.31
Panza, F.32
Nacmias, B.33
Bossu, P.34
Piccardi, P.35
Annoni, G.36
Seripa, D.37
Galimberti, D.38
Hannequin, D.39
Licastro, F.40
Soininen, H.41
Ritchie, K.42
Blanche, H.43
Dartigues, J.F.44
Tzourio, C.45
Gut, I.46
Van, B.C.47
Alperovitch, A.48
Lathrop, M.49
Amouyel, P.50
more..
-
88
-
-
32844465332
-
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene
-
Larner AJ, Doran M. 2006. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J Neurol 253: 139-158.
-
(2006)
J Neurol
, vol.253
, pp. 139-158
-
-
Larner, A.J.1
Doran, M.2
-
89
-
-
33845984883
-
The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease
-
Larner AJ, Ray PS, Doran M. 2007. The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease. J Neurol Sci 252: 173-176.
-
(2007)
J Neurol Sci
, vol.252
, pp. 173-176
-
-
Larner, A.J.1
Ray, P.S.2
Doran, M.3
-
90
-
-
34447098853
-
Progranulin null mutations in both sporadic and familial frontotemporal dementia
-
Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerriere A, de Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Anterion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A. 2007. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat 28: 846-855.
-
(2007)
Hum Mutat
, vol.28
, pp. 846-855
-
-
Le Ber, I.1
van der Zee, J.2
Hannequin, D.3
Gijselinck, I.4
Campion, D.5
Puel, M.6
Laquerriere, A.7
de Pooter, T.8
Camuzat, A.9
Van den Broeck, M.10
Dubois, B.11
Sellal, F.12
Lacomblez, L.13
Vercelletto, M.14
Thomas-Anterion, C.15
Michel, B.F.16
Golfier, V.17
Didic, M.18
Salachas, F.19
Duyckaerts, C.20
Cruts, M.21
Verpillat, P.22
Van Broeckhoven, C.23
Brice, A.24
more..
-
91
-
-
39749135522
-
Phenotype variability in progranulin mutation carriers: A clinical, neuropsychological, imaging and genetic study
-
Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A. 2008. Phenotype variability in progranulin mutation carriers: A clinical, neuropsychological, imaging and genetic study. Brain 131: 732-746.
-
(2008)
Brain
, vol.131
, pp. 732-746
-
-
Le Ber, I.1
Camuzat, A.2
Hannequin, D.3
Pasquier, F.4
Guedj, E.5
Rovelet-Lecrux, A.6
Hahn-Barma, V.7
van der Zee, J.8
Clot, F.9
Bakchine, S.10
Puel, M.11
Ghanim, M.12
Lacomblez, L.13
Mikol, J.14
Deramecourt, V.15
Lejeune, P.16
de la Sayette, V.17
Belliard, S.18
Vercelletto, M.19
Meyrignac, C.20
Van Broeckhoven, C.21
Lambert, J.C.22
Verpillat, P.23
Campion, D.24
Habert, M.O.25
Dubois, B.26
Brice, A.27
more..
-
92
-
-
80054061066
-
Subtypes of progressive aphasia: Application of the international consensus criteria and validation using {beta}-amyloid imaging
-
Leyton C, Villemagne V, Savage S, Pike K, Ballard K, Piguet O, Burrell J, Rowe C, Hodges J. 2011. Subtypes of progressive aphasia: Application of the international consensus criteria and validation using {beta}-amyloid imaging. Brain 134: 3030-3043.
-
(2011)
Brain
, vol.134
, pp. 3030-3043
-
-
Leyton, C.1
Villemagne, V.2
Savage, S.3
Pike, K.4
Ballard, K.5
Piguet, O.6
Burrell, J.7
Rowe, C.8
Hodges, J.9
-
93
-
-
58149295369
-
Regional analysis of FDG and PIB-PET images in normal aging, mild cognitive impairment, and Alzheimer's disease
-
Li Y, Rinne JO, Mosconi L, Pirraglia E, Rusinek H, DeSanti S, Kemppainen N, Nagren K, Kim BC, Tsui W, de Leon MJ. 2008. Regional analysis of FDG and PIB-PET images in normal aging, mild cognitive impairment, and Alzheimer's disease. Eur J Nucl Med Mol Imaging 35: 2169-2181.
-
(2008)
Eur J Nucl Med Mol Imaging
, vol.35
, pp. 2169-2181
-
-
Li, Y.1
Rinne, J.O.2
Mosconi, L.3
Pirraglia, E.4
Rusinek, H.5
DeSanti, S.6
Kemppainen, N.7
Nagren, K.8
Kim, B.C.9
Tsui, W.10
de Leon, M.J.11
-
94
-
-
41049106547
-
Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation
-
Lindquist SG, Holm IE, Schwartz M, Law I, Stokholm J, Batbayli M, Waldemar G, Nielsen JE. 2008. Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. Eur J Neurol 15: 377-385.
-
(2008)
Eur J Neurol
, vol.15
, pp. 377-385
-
-
Lindquist, S.G.1
Holm, I.E.2
Schwartz, M.3
Law, I.4
Stokholm, J.5
Batbayli, M.6
Waldemar, G.7
Nielsen, J.E.8
-
95
-
-
0036845601
-
Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onsheimer disease in Spain
-
Lleo A, Blesa R, Queralt R, Ezquerra M, Molinuevo JL, Pena-Casanova J, Rojo A, Oliva R. 2002. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol 59: 1759-1763.
-
(2002)
Arch Neurol
, vol.59
, pp. 1759-1763
-
-
Lleo, A.1
Blesa, R.2
Queralt, R.3
Ezquerra, M.4
Molinuevo, J.L.5
Pena-Casanova, J.6
Rojo, A.7
Oliva, R.8
-
96
-
-
33750590113
-
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
-
Mackenzie IR, Baker M, Pickering-Brown S, Hsiung GY, Lindholm C, Dwosh E, Gass J, Cannon A, Rademakers R, Hutton M, Feldman HH. 2006. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain 129: 3081-3090.
-
(2006)
Brain
, vol.129
, pp. 3081-3090
-
-
Mackenzie, I.R.1
Baker, M.2
Pickering-Brown, S.3
Hsiung, G.Y.4
Lindholm, C.5
Dwosh, E.6
Gass, J.7
Cannon, A.8
Rademakers, R.9
Hutton, M.10
Feldman, H.H.11
-
97
-
-
84856132922
-
Repeat expansion in C9ORF72 in Alzheimer's disease
-
Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ. 2012. Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med 366: 283-284.
-
(2012)
N Engl J Med
, vol.366
, pp. 283-284
-
-
Majounie, E.1
Abramzon, Y.2
Renton, A.E.3
Perry, R.4
Bassett, S.S.5
Pletnikova, O.6
Troncoso, J.C.7
Hardy, J.8
Singleton, A.B.9
Traynor, B.J.10
-
98
-
-
0037159187
-
Diagnostic strategies in CADASIL
-
Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF. 2002. Diagnostic strategies in CADASIL. Neurology 59: 1134-1138.
-
(2002)
Neurology
, vol.59
, pp. 1134-1138
-
-
Markus, H.S.1
Martin, R.J.2
Simpson, M.A.3
Dong, Y.B.4
Ali, N.5
Crosby, A.H.6
Powell, J.F.7
-
99
-
-
0006164301
-
Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): Report of the consortium on DLB international workshop
-
McKeith IG, Galasko D, Kosaka K, Perry EK, Dickson DW, Hansen LA, Salmon DP, Lowe J, Mirra SS, Byrne EJ, Lennox G, Quinn NP, Edwardson JA, Ince PG, Bergeron C, Burns A, Miller BL, Lovestone S, Collerton D, Jansen EN, Ballard C, de Vos RA, Wilcock GK, Jellinger KA, Perry RH. 1996. Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): Report of the consortium on DLB international workshop. Neurology 47: 1113-1124.
-
(1996)
Neurology
, vol.47
, pp. 1113-1124
-
-
McKeith, I.G.1
Galasko, D.2
Kosaka, K.3
Perry, E.K.4
Dickson, D.W.5
Hansen, L.A.6
Salmon, D.P.7
Lowe, J.8
Mirra, S.S.9
Byrne, E.J.10
Lennox, G.11
Quinn, N.P.12
Edwardson, J.A.13
Ince, P.G.14
Bergeron, C.15
Burns, A.16
Miller, B.L.17
Lovestone, S.18
Collerton, D.19
Jansen, E.N.20
Ballard, C.21
de Vos, R.A.22
Wilcock, G.K.23
Jellinger, K.A.24
Perry, R.H.25
more..
-
100
-
-
0021271971
-
Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
-
McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. 1984. Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34: 939-944.
-
(1984)
Neurology
, vol.34
, pp. 939-944
-
-
McKhann, G.1
Drachman, D.2
Folstein, M.3
Katzman, R.4
Price, D.5
Stadlan, E.M.6
-
101
-
-
0034764622
-
Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease
-
McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ. 2001. Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 58: 1803-1809.
-
(2001)
Arch Neurol
, vol.58
, pp. 1803-1809
-
-
McKhann, G.M.1
Albert, M.S.2
Grossman, M.3
Miller, B.4
Dickson, D.5
Trojanowski, J.Q.6
-
102
-
-
79956142378
-
The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
-
McKhann GM, Knopman DS, Chertkow H, Hyman BT, Jack CRJ, Kawas CH, Klunk WE, Koroshetz WJ, Manly JJ, Mayeux R, Mohs RC, Morris JC, Rossor MN, Scheltens P, Carrillo MC, Thies B, Weintraub S, Phelps CH. 2011. The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 7: 263-269.
-
(2011)
Alzheimers Dement
, vol.7
, pp. 263-269
-
-
McKhann, G.M.1
Knopman, D.S.2
Chertkow, H.3
Hyman, B.T.4
Jack, C.R.J.5
Kawas, C.H.6
Klunk, W.E.7
Koroshetz, W.J.8
Manly, J.J.9
Mayeux, R.10
Mohs, R.C.11
Morris, J.C.12
Rossor, M.N.13
Scheltens, P.14
Carrillo, M.C.15
Thies, B.16
Weintraub, S.17
Phelps, C.H.18
-
103
-
-
33749248163
-
Inherited prion disease with six octapeptide repeat insertional mutation-Molecular analysis of phenotypic heterogeneity
-
Mead S, Poulter M, Beck J, Webb TEF, Campbell TA, Linehan JM, Desbruslais M, Joiner S, Wadsworth JDF, King A, Lantos P, Collinge J. 2006. Inherited prion disease with six octapeptide repeat insertional mutation-Molecular analysis of phenotypic heterogeneity. Brain 129: 2297-2317.
-
(2006)
Brain
, vol.129
, pp. 2297-2317
-
-
Mead, S.1
Poulter, M.2
Beck, J.3
Webb, T.E.F.4
Campbell, T.A.5
Linehan, J.M.6
Desbruslais, M.7
Joiner, S.8
Wadsworth, J.D.F.9
King, A.10
Lantos, P.11
Collinge, J.12
-
104
-
-
34548137339
-
Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129
-
Mead S, Webb TEF, Campbell TA, Beck J, Linehan JM, Rutherfoord S, Joiner S, Wadsworth JDF, Heckmann J, Wroe S, Doey L, King A, Collinge J. 2007. Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129. Neurology 69: 730-738.
-
(2007)
Neurology
, vol.69
, pp. 730-738
-
-
Mead, S.1
Webb, T.E.F.2
Campbell, T.A.3
Beck, J.4
Linehan, J.M.5
Rutherfoord, S.6
Joiner, S.7
Wadsworth, J.D.F.8
Heckmann, J.9
Wroe, S.10
Doey, L.11
King, A.12
Collinge, J.13
-
105
-
-
84855808679
-
DLB and PDD: A role for mutations in dementia and Parkinson disease genes?
-
Meeus B, Verstraeten A, Crosiers D, Engelborghs S, Van den Broeck M, Mattheijssens M, Peeters K, Corsmit E, Elinck E, Pickut B, Vandenberghe R, Cras P, De Deyn P, Van Broeckhoven C, Theuns J. 2012. DLB and PDD: A role for mutations in dementia and Parkinson disease genes? Neurobiol Aging 33: 629.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 629
-
-
Meeus, B.1
Verstraeten, A.2
Crosiers, D.3
Engelborghs, S.4
Van den Broeck, M.5
Mattheijssens, M.6
Peeters, K.7
Corsmit, E.8
Elinck, E.9
Pickut, B.10
Vandenberghe, R.11
Cras, P.12
De Deyn, P.13
Van Broeckhoven, C.14
Theuns, J.15
-
106
-
-
33747878592
-
Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations
-
Mendez MF, McMurtray A. 2006. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am J Alzheimers Dis Other Demen 21: 281-286.
-
(2006)
Am J Alzheimers Dis Other Demen
, vol.21
, pp. 281-286
-
-
Mendez, M.F.1
McMurtray, A.2
-
107
-
-
16644396131
-
Pathological and clinical heterogeneity of presenilin 1 gene mutations
-
Menendez M. 2004. Pathological and clinical heterogeneity of presenilin 1 gene mutations. J Alzheimers Dis 6: 475-482.
-
(2004)
J Alzheimers Dis
, vol.6
, pp. 475-482
-
-
Menendez, M.1
-
108
-
-
56149118607
-
Incidence of early-onset dementias in Cambridgeshire, United Kingdom
-
Mercy L, Hodges JR, Dawson K, Barker RA, Brayne C. 2008. Incidence of early-onset dementias in Cambridgeshire, United Kingdom. Neurology 71: 1496-1499.
-
(2008)
Neurology
, vol.71
, pp. 1496-1499
-
-
Mercy, L.1
Hodges, J.R.2
Dawson, K.3
Barker, R.A.4
Brayne, C.5
-
109
-
-
81355146748
-
The chromosome 9 ALS and FTD locus is probably derived from a single founder
-
Mok K, Traynor B, Schymick J, Tienari P, Laaksovirta H, Peuralinna T, Myllykangas L, Chio A, Shatunov A, Boeve B, Boxer A, Dejesus-Hernandez M, Mackenzie I, Waite A, Williams N, Morris H, Simon-Sanchez J, van Swieten J, Heutink P, Restagno G, Mora G, Morrison K, Shaw P, Rollinson P, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell R, Nalls M, Hardy J. 2012. The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 209.e3-209.e8.
-
(2012)
Neurobiol Aging
-
-
Mok, K.1
Traynor, B.2
Schymick, J.3
Tienari, P.4
Laaksovirta, H.5
Peuralinna, T.6
Myllykangas, L.7
Chio, A.8
Shatunov, A.9
Boeve, B.10
Boxer, A.11
Dejesus-Hernandez, M.12
Mackenzie, I.13
Waite, A.14
Williams, N.15
Morris, H.16
Simon-Sanchez, J.17
van Swieten, J.18
Heutink, P.19
Restagno, G.20
Mora, G.21
Morrison, K.22
Shaw, P.23
Rollinson, P.24
Al-Chalabi, A.25
Rademakers, R.26
Pickering-Brown, S.27
Orrell, R.28
Nalls, M.29
Hardy, J.30
more..
-
110
-
-
77952921864
-
Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia
-
Momeni P, DeTucci K, Straub RE, Weinberger DR, Davies P, Grafman J, Hardy J, Huey ED. 2010. Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia. Neurocase 16: 273-279.
-
(2010)
Neurocase
, vol.16
, pp. 273-279
-
-
Momeni, P.1
DeTucci, K.2
Straub, R.E.3
Weinberger, D.R.4
Davies, P.5
Grafman, J.6
Hardy, J.7
Huey, E.D.8
-
111
-
-
85026136018
-
Familial Alzheimer disease: Decreases in CSF Abeta42 levels precede cognitive decline
-
Moonis M, Swearer JM, Dayaw MPE, St George-Hyslop P, Rogaeva E, Kawarai T, Pollen DA. 2005. Familial Alzheimer disease: Decreases in CSF Abeta42 levels precede cognitive decline. Neurology 65: 323-325.
-
(2005)
Neurology
, vol.65
, pp. 323-325
-
-
Moonis, M.1
Swearer, J.M.2
Dayaw, M.P.E.3
St George-Hyslop, P.4
Rogaeva, E.5
Kawarai, T.6
Pollen, D.A.7
-
112
-
-
0026907151
-
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid
-
Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L. 1992. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet 1: 345-347.
-
(1992)
Nat Genet
, vol.1
, pp. 345-347
-
-
Mullan, M.1
Crawford, F.2
Axelman, K.3
Houlden, H.4
Lilius, L.5
Winblad, B.6
Lannfelt, L.7
-
113
-
-
34548288059
-
Progressive nonfluent aphasia associated with a new mutation V363I in tau gene
-
Munoz DG, Ros R, Fatas M, Bermejo F, de Yebenes JG. 2007. Progressive nonfluent aphasia associated with a new mutation V363I in tau gene. Am J Alzheimers Dis Other Demen 22: 294-299.
-
(2007)
Am J Alzheimers Dis Other Demen
, vol.22
, pp. 294-299
-
-
Munoz, D.G.1
Ros, R.2
Fatas, M.3
Bermejo, F.4
de Yebenes, J.G.5
-
114
-
-
82355180849
-
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
-
Murray M, Dejesus-Hernandez M, Rutherford N, Baker M, Duara R, Graff-Radford N, Wszolek Z, Ferman T, Josephs K, Boylan K, Rademakers R, Dickson D. 2011. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122: 673-690.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 673-690
-
-
Murray, M.1
Dejesus-Hernandez, M.2
Rutherford, N.3
Baker, M.4
Duara, R.5
Graff-Radford, N.6
Wszolek, Z.7
Ferman, T.8
Josephs, K.9
Boylan, K.10
Rademakers, R.11
Dickson, D.12
-
115
-
-
79955464911
-
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onsheimer's disease
-
Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, de Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, George-Hyslop PS, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, et al. 2011. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 43: 436-441.
-
(2011)
Nat Genet
, vol.43
, pp. 436-441
-
-
Naj, A.C.1
Jun, G.2
Beecham, G.W.3
Wang, L.S.4
Vardarajan, B.N.5
Buros, J.6
Gallins, P.J.7
Buxbaum, J.D.8
Jarvik, G.P.9
Crane, P.K.10
Larson, E.B.11
Bird, T.D.12
Boeve, B.F.13
Graff-Radford, N.R.14
de Jager, P.L.15
Evans, D.16
Schneider, J.A.17
Carrasquillo, M.M.18
Ertekin-Taner, N.19
Younkin, S.G.20
Cruchaga, C.21
Kauwe, J.S.22
Nowotny, P.23
Kramer, P.24
Hardy, J.25
Huentelman, M.J.26
Myers, A.J.27
Barmada, M.M.28
Demirci, F.Y.29
Baldwin, C.T.30
Green, R.C.31
Rogaeva, E.32
George-Hyslop, P.S.33
Arnold, S.E.34
Barber, R.35
Beach, T.36
Bigio, E.H.37
Bowen, J.D.38
Boxer, A.39
Burke, J.R.40
Cairns, N.J.41
Carlson, C.S.42
Carney, R.M.43
Carroll, S.L.44
Chui, H.C.45
Clark, D.G.46
Corneveaux, J.47
Cotman, C.W.48
Cummings, J.L.49
DeCarli, C.50
DeKosky, S.T.51
Diaz-Arrastia, R.52
Dick, M.53
Dickson, D.W.54
Ellis, W.G.55
Faber, K.M.56
Fallon, K.B.57
Farlow, M.R.58
Ferris, S.59
Frosch, M.P.60
Galasko, D.R.61
Ganguli, M.62
Gearing, M.63
Geschwind, D.H.64
Ghetti, B.65
Gilbert, J.R.66
Gilman, S.67
Giordani, B.68
Glass, J.D.69
Growdon, J.H.70
Hamilton, R.L.71
Harrell, L.E.72
Head, E.73
Honig, L.S.74
Hulette, C.M.75
Hyman, B.T.76
Jicha, G.A.77
Jin, L.W.78
Johnson, N.79
Karlawish, J.80
Karydas, A.81
Kaye, J.A.82
Kim, R.83
Koo, E.H.84
Kowall, N.W.85
Lah, J.J.86
Levey, A.I.87
Lieberman, A.P.88
Lopez, O.L.89
Mack, W.J.90
Marson, D.C.91
Martiniuk, F.92
Mash, D.C.93
Masliah, E.94
McCormick, W.C.95
McCurry, S.M.96
McDavid, A.N.97
McKee, A.C.98
Mesulam, M.99
more..
-
116
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF. 1998. Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology 51: 1546-1554.
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
Passant, U.4
Stuss, D.5
Black, S.6
Freedman, M.7
Kertesz, A.8
Robert, P.H.9
Albert, M.10
Boone, K.11
Miller, B.L.12
Cummings, J.13
Benson, D.F.14
-
117
-
-
78651306090
-
Familial aggregation of dementia with Lewy bodies
-
Nervi A, Reitz C, Tang MX, Santana V, Piriz A, Reyes D, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Lee JH, Mayeux R. 2011. Familial aggregation of dementia with Lewy bodies. Arch Neurol 68: 90-93.
-
(2011)
Arch Neurol
, vol.68
, pp. 90-93
-
-
Nervi, A.1
Reitz, C.2
Tang, M.X.3
Santana, V.4
Piriz, A.5
Reyes, D.6
Lantigua, R.7
Medrano, M.8
Jimenez-Velazquez, I.Z.9
Lee, J.H.10
Mayeux, R.11
-
119
-
-
77957680268
-
Prospective 10-year surveillance of human prion diseases in Japan
-
Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, Sato T, Kitamoto T, Mizusawa H, Moriwaka F, Shiga Y, Kuroiwa Y, Nishizawa M, Kuzuhara S, Inuzuka T, Takeda M, Kuroda S, Abe K, Murai H, Murayama S, Tateishi J, Takumi I, Shirabe S, Harada M, Sadakane A, Yamada M. 2010. Prospective 10-year surveillance of human prion diseases in Japan. Brain 133: 3043-3057.
-
(2010)
Brain
, vol.133
, pp. 3043-3057
-
-
Nozaki, I.1
Hamaguchi, T.2
Sanjo, N.3
Noguchi-Shinohara, M.4
Sakai, K.5
Nakamura, Y.6
Sato, T.7
Kitamoto, T.8
Mizusawa, H.9
Moriwaka, F.10
Shiga, Y.11
Kuroiwa, Y.12
Nishizawa, M.13
Kuzuhara, S.14
Inuzuka, T.15
Takeda, M.16
Kuroda, S.17
Abe, K.18
Murai, H.19
Murayama, S.20
Tateishi, J.21
Takumi, I.22
Shirabe, S.23
Harada, M.24
Sadakane, A.25
Yamada, M.26
more..
-
120
-
-
1542716772
-
Diagnostic strategies in CADASIL
-
Oberstein SA. 2003. Diagnostic strategies in CADASIL. Neurology 60: 2020.
-
(2003)
Neurology
, vol.60
, pp. 2020
-
-
Oberstein, S.A.1
-
121
-
-
2642517835
-
The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy
-
Ostojic J, Elfgren C, Passant U, Nilsson K, Gustafson L, Lannfelt L, Froelich Fabre S. 2004. The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy. Dement Geriatr Cogn Disord 17: 298-2301.
-
(2004)
Dement Geriatr Cogn Disord
, vol.17
, pp. 298-2301
-
-
Ostojic, J.1
Elfgren, C.2
Passant, U.3
Nilsson, K.4
Gustafson, L.5
Lannfelt, L.6
Froelich Fabre, S.7
-
122
-
-
75949123385
-
Frequency and causes of early-onset dementia in a tertiary referral center in Athens
-
Papageorgiou SG, Kontaxis T, Bonakis A, Kalfakis N, Vassilopoulos D. 2009. Frequency and causes of early-onset dementia in a tertiary referral center in Athens. Alzheimer Dis Assoc Disord 23: 347-351.
-
(2009)
Alzheimer Dis Assoc Disord
, vol.23
, pp. 347-351
-
-
Papageorgiou, S.G.1
Kontaxis, T.2
Bonakis, A.3
Kalfakis, N.4
Vassilopoulos, D.5
-
123
-
-
0035134195
-
Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
-
Pastor P, Pastor E, Carnero C, Vela R, Garcia T, Amer G, Tolosa E, Oliva R. 2001. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 49: 263-267.
-
(2001)
Ann Neurol
, vol.49
, pp. 263-267
-
-
Pastor, P.1
Pastor, E.2
Carnero, C.3
Vela, R.4
Garcia, T.5
Amer, G.6
Tolosa, E.7
Oliva, R.8
-
124
-
-
22844446634
-
Spectrum of mutations in biopsy-proven CADASIL: Implications for diagnostic strategies
-
Peters N, Opherk C, Bergmann T, Castro M, Herzog J, Dichgans M. 2005. Spectrum of mutations in biopsy-proven CADASIL: Implications for diagnostic strategies. Arch Neurol 62: 1091-1094.
-
(2005)
Arch Neurol
, vol.62
, pp. 1091-1094
-
-
Peters, N.1
Opherk, C.2
Bergmann, T.3
Castro, M.4
Herzog, J.5
Dichgans, M.6
-
125
-
-
39749187585
-
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: Comparison with patients with MAPT and no known mutations
-
Pickering-Brown SM, Rollinson S, Du Plessis D, Morrison KE, Varma A, Richardson AMT, Neary D, Snowden JS, Mann DMA. 2008. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: Comparison with patients with MAPT and no known mutations. Brain 131: 721-731.
-
(2008)
Brain
, vol.131
, pp. 721-731
-
-
Pickering-Brown, S.M.1
Rollinson, S.2
Du Plessis, D.3
Morrison, K.E.4
Varma, A.5
Richardson, A.M.T.6
Neary, D.7
Snowden, J.S.8
Mann, D.M.A.9
-
126
-
-
78751579187
-
Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management
-
Piguet O, Hornberger M, Mioshi E, Hodges JR. 2011. Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management. Lancet Neurol 10: 162-172.
-
(2011)
Lancet Neurol
, vol.10
, pp. 162-172
-
-
Piguet, O.1
Hornberger, M.2
Mioshi, E.3
Hodges, J.R.4
-
127
-
-
78149488153
-
Amyloid-independent mechanisms in Alzheimer's disease pathogenesis
-
Pimplikar SW, Nixon RA, Robakis NK, Shen J, Tsai LH. 2010. Amyloid-independent mechanisms in Alzheimer's disease pathogenesis. J Neurosci 30: 14946-14954.
-
(2010)
J Neurosci
, vol.30
, pp. 14946-14954
-
-
Pimplikar, S.W.1
Nixon, R.A.2
Robakis, N.K.3
Shen, J.4
Tsai, L.H.5
-
128
-
-
0035108754
-
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia
-
Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD. 2001. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 58: 383-387.
-
(2001)
Arch Neurol
, vol.58
, pp. 383-387
-
-
Poorkaj, P.1
Grossman, M.2
Steinbart, E.3
Payami, H.4
Sadovnick, A.5
Nochlin, D.6
Tabira, T.7
Trojanowski, J.Q.8
Borson, S.9
Galasko, D.10
Reich, S.11
Quinn, B.12
Schellenberg, G.13
Bird, T.D.14
-
129
-
-
0344464874
-
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)
-
Portet F, Dauvilliers Y, Campion D, Raux G, Hauw JJ, Lyon-Caen O, Camu W, Touchon J. 2003. Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu). Neurology 61: 1136-1137.
-
(2003)
Neurology
, vol.61
, pp. 1136-1137
-
-
Portet, F.1
Dauvilliers, Y.2
Campion, D.3
Raux, G.4
Hauw, J.J.5
Lyon-Caen, O.6
Camu, W.7
Touchon, J.8
-
130
-
-
80855131539
-
Genetic counseling for frontotemporal dementias
-
Quaid K. 2011. Genetic counseling for frontotemporal dementias. J Mol Neurosci 45: 706-709.
-
(2011)
J Mol Neurosci
, vol.45
, pp. 706-709
-
-
Quaid, K.1
-
131
-
-
0036155190
-
A novel mutation (V89L) in the presenilin 1 gene in a family with early onsheimer's disease and marked behavioural disturbances
-
Queralt R, Ezquerra M, Lleo A, Castellvi M, Gelpi J, Ferrer I, Acarin N, Pasarin L, Blesa R, Oliva R. 2002. A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. J Neurol Neurosurg Psychiatry 72: 266-269.
-
(2002)
J Neurol Neurosurg Psychiatry
, vol.72
, pp. 266-269
-
-
Queralt, R.1
Ezquerra, M.2
Lleo, A.3
Castellvi, M.4
Gelpi, J.5
Ferrer, I.6
Acarin, N.7
Pasarin, L.8
Blesa, R.9
Oliva, R.10
-
132
-
-
80052938441
-
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
-
Rascovsky K, Hodges J, Knopman D, Mendez M, Kramer J, Neuhaus J, van Swieten J, Seelaar H, Dopper E, Onyike C, Hillis A, Josephs K, Boeve B, Kertesz A, Seeley W, Rankin K, Johnson J, Gorno-Tempini M, Rosen H, Prioleau-Latham C, Lee A, Kipps C, Lillo P, Piguet O, Rohrer J, Rossor M, Warren J, Fox N, Galasko D, Salmon D, Black S, Mesulam M, Weintraub S, Dickerson B, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow T, Manes F, Grafman J, Cappa S, Freedman M, Grossman M, Miller B. 2011. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134: 2456-2477.
-
(2011)
Brain
, vol.134
, pp. 2456-2477
-
-
Rascovsky, K.1
Hodges, J.2
Knopman, D.3
Mendez, M.4
Kramer, J.5
Neuhaus, J.6
van Swieten, J.7
Seelaar, H.8
Dopper, E.9
Onyike, C.10
Hillis, A.11
Josephs, K.12
Boeve, B.13
Kertesz, A.14
Seeley, W.15
Rankin, K.16
Johnson, J.17
Gorno-Tempini, M.18
Rosen, H.19
Prioleau-Latham, C.20
Lee, A.21
Kipps, C.22
Lillo, P.23
Piguet, O.24
Rohrer, J.25
Rossor, M.26
Warren, J.27
Fox, N.28
Galasko, D.29
Salmon, D.30
Black, S.31
Mesulam, M.32
Weintraub, S.33
Dickerson, B.34
Diehl-Schmid, J.35
Pasquier, F.36
Deramecourt, V.37
Lebert, F.38
Pijnenburg, Y.39
Chow, T.40
Manes, F.41
Grafman, J.42
Cappa, S.43
Freedman, M.44
Grossman, M.45
Miller, B.46
more..
-
134
-
-
0034727610
-
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation
-
Raux G, Gantier R, Thomas-Anterion C, Boulliat J, Verpillat P, Hannequin D, Brice A, Frebourg T, Campion D. 2000. Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology 55: 1577-1578.
-
(2000)
Neurology
, vol.55
, pp. 1577-1578
-
-
Raux, G.1
Gantier, R.2
Thomas-Anterion, C.3
Boulliat, J.4
Verpillat, P.5
Hannequin, D.6
Brice, A.7
Frebourg, T.8
Campion, D.9
-
135
-
-
26944475934
-
Molecular diagnosis of autosomal dominant early onsheimer's disease: An update
-
Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. 2005. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: An update. J Med Genet 42: 793-795.
-
(2005)
J Med Genet
, vol.42
, pp. 793-795
-
-
Raux, G.1
Guyant-Marechal, L.2
Martin, C.3
Bou, J.4
Penet, C.5
Brice, A.6
Hannequin, D.7
Frebourg, T.8
Campion, D.9
-
137
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
van Swieten, J.C.9
Myllykangas, L.10
Kalimo, H.11
Paetau, A.12
Abramzon, Y.13
Remes, A.M.14
Kaganovich, A.15
Scholz, S.W.16
Duckworth, J.17
Ding, J.18
Harmer, D.W.19
Hernandez, D.G.20
Johnson, J.O.21
Mok, K.22
Ryten, M.23
Trabzuni, D.24
Guerreiro, R.J.25
Orrell, R.W.26
Neal, J.27
Murray, A.28
Pearson, J.29
Jansen, I.E.30
Sondervan, D.31
Seelaar, H.32
Blake, D.33
Young, K.34
Halliwell, N.35
Callister, J.B.36
Toulson, G.37
Richardson, A.38
Gerhard, A.39
Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.M.46
Kaivorinne, A.L.47
Holtta-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chio, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
more..
-
138
-
-
67349216125
-
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies
-
Revesz T, Holton JL, Lashley T, Plant G, Frangione B, Rostagno A, Ghiso J. 2009. Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol 118: 115-130.
-
(2009)
Acta Neuropathol
, vol.118
, pp. 115-130
-
-
Revesz, T.1
Holton, J.L.2
Lashley, T.3
Plant, G.4
Frangione, B.5
Rostagno, A.6
Ghiso, J.7
-
139
-
-
68149131822
-
A decade of genetic counseling in frontotemporal dementia affected families: Few counseling requests and much familial opposition to testing
-
Riedijk SR, Niermeijer MFN, Dooijes D, Tibben A. 2009. A decade of genetic counseling in frontotemporal dementia affected families: Few counseling requests and much familial opposition to testing. J Genet Couns 18: 350-356.
-
(2009)
J Genet Couns
, vol.18
, pp. 350-356
-
-
Riedijk, S.R.1
Niermeijer, M.F.N.2
Dooijes, D.3
Tibben, A.4
-
140
-
-
23844511513
-
Prevalence and patterns of cognitive impairment in sporadic ALS
-
Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. 2005. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 65: 586-590.
-
(2005)
Neurology
, vol.65
, pp. 586-590
-
-
Ringholz, G.M.1
Appel, S.H.2
Bradshaw, M.3
Cooke, N.A.4
Mosnik, D.M.5
Schulz, P.E.6
-
141
-
-
33845464416
-
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia
-
Rizzu P, van Mil SE, Anar B, Rosso SM, Donker Kaat L, Heutink P, van Swieten JC. 2006. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. Am J Med Genet Part B 141B: 944-946.
-
(2006)
Am J Med Genet Part B
, vol.141 B
, pp. 944-946
-
-
Rizzu, P.1
van Mil, S.E.2
Anar, B.3
Rosso, S.M.4
Donker Kaat, L.5
Heutink, P.6
van Swieten, J.C.7
-
142
-
-
28444468433
-
Genetic risk assessment for adult children of people with Alzheimer's disease: The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) study
-
Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Green RC. 2005. Genetic risk assessment for adult children of people with Alzheimer's disease: The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) study. J Geriatr Psychiatry Neurol 18: 250-255.
-
(2005)
J Geriatr Psychiatry Neurol
, vol.18
, pp. 250-255
-
-
Roberts, J.S.1
Cupples, L.A.2
Relkin, N.R.3
Whitehouse, P.J.4
Green, R.C.5
-
143
-
-
0035964209
-
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
-
Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. 2001. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 57: 621-625.
-
(2001)
Neurology
, vol.57
, pp. 621-625
-
-
Rogaeva, E.A.1
Fafel, K.C.2
Song, Y.Q.3
Medeiros, H.4
Sato, C.5
Liang, Y.6
Richard, E.7
Rogaev, E.I.8
Frommelt, P.9
Sadovnick, A.D.10
Meschino, W.11
Rockwood, K.12
Boss, M.A.13
Mayeux, R.14
St George-Hyslop, P.15
-
144
-
-
42249094592
-
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene
-
Rohrer JD, Warren JD, Omar R, Mead S, Beck J, Revesz T, Holton J, Stevens JM, Al-Sarraj S, Pickering-Brown SM, Hardy J, Fox NC, Collinge J, Warrington EK, Rossor MN. 2008. Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. Arch Neurol 65: 506-513.
-
(2008)
Arch Neurol
, vol.65
, pp. 506-513
-
-
Rohrer, J.D.1
Warren, J.D.2
Omar, R.3
Mead, S.4
Beck, J.5
Revesz, T.6
Holton, J.7
Stevens, J.M.8
Al-Sarraj, S.9
Pickering-Brown, S.M.10
Hardy, J.11
Fox, N.C.12
Collinge, J.13
Warrington, E.K.14
Rossor, M.N.15
-
145
-
-
70449365115
-
The heritability and genetics of frontotemporal lobar degeneration
-
Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN. 2009. The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451-1456.
-
(2009)
Neurology
, vol.73
, pp. 1451-1456
-
-
Rohrer, J.D.1
Guerreiro, R.2
Vandrovcova, J.3
Uphill, J.4
Reiman, D.5
Beck, J.6
Isaacs, A.M.7
Authier, A.8
Ferrari, R.9
Fox, N.C.10
Mackenzie, I.R.11
Warren, J.D.12
de Silva, R.13
Holton, J.14
Revesz, T.15
Hardy, J.16
Mead, S.17
Rossor, M.N.18
-
146
-
-
34247868841
-
TDP-43 gene analysis in frontotemporal lobar degeneration
-
Rollinson S, Snowden JS, Neary D, Morrison KE, Mann DM, Pickering-Brown SM. 2007. TDP-43 gene analysis in frontotemporal lobar degeneration. Neurosci Lett 419: 1-4.
-
(2007)
Neurosci Lett
, vol.419
, pp. 1-4
-
-
Rollinson, S.1
Snowden, J.S.2
Neary, D.3
Morrison, K.E.4
Mann, D.M.5
Pickering-Brown, S.M.6
-
147
-
-
21544448869
-
Emotional responses to APO E genotype disclosure for Alzheimer disease
-
Romero LJ, Garry PJ, Schuyler M, Bennahum DA, Qualls C, Ballinger L, Kelly V, Schmitt C, Skipper B, Ortiz IE, Rhyne RL. 2005. Emotional responses to APO E genotype disclosure for Alzheimer disease. J Genet Couns 14: 141-150.
-
(2005)
J Genet Couns
, vol.14
, pp. 141-150
-
-
Romero, L.J.1
Garry, P.J.2
Schuyler, M.3
Bennahum, D.A.4
Qualls, C.5
Ballinger, L.6
Kelly, V.7
Schmitt, C.8
Skipper, B.9
Ortiz, I.E.10
Rhyne, R.L.11
-
148
-
-
0041320789
-
Frontotemporal dementia in The Netherlands: Patient characteristics and prevalence estimates from a population-based study
-
Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC. 2003. Frontotemporal dementia in The Netherlands: Patient characteristics and prevalence estimates from a population-based study. Brain 126: 2016-2022.
-
(2003)
Brain
, vol.126
, pp. 2016-2022
-
-
Rosso, S.M.1
Donker Kaat, L.2
Baks, T.3
Joosse, M.4
de Koning, I.5
Pijnenburg, Y.6
de Jong, D.7
Dooijes, D.8
Kamphorst, W.9
Ravid, R.10
Niermeijer, M.F.11
Verheij, F.12
Kremer, H.P.13
Scheltens, P.14
van Duijn, C.M.15
Heutink, P.16
van Swieten, J.C.17
-
149
-
-
77955312709
-
The diagnosis of young-onset dementia
-
Rossor MN, Fox NC, Mummery CJ, Schott JM, Warren JD. 2010. The diagnosis of young-onset dementia. Lancet Neurol 9: 793-806.
-
(2010)
Lancet Neurol
, vol.9
, pp. 793-806
-
-
Rossor, M.N.1
Fox, N.C.2
Mummery, C.J.3
Schott, J.M.4
Warren, J.D.5
-
150
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onsheimer disease with cerebral amyloid angiopathy
-
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D. 2006. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38: 24-26.
-
(2006)
Nat Genet
, vol.38
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
Hannequin, D.2
Raux, G.3
Le Meur, N.4
Laquerriere, A.5
Vital, A.6
Dumanchin, C.7
Feuillette, S.8
Brice, A.9
Vercelletto, M.10
Dubas, F.11
Frebourg, T.12
Campion, D.13
-
151
-
-
77954587263
-
Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia
-
Schoder D, Hannequin D, Martinaud O, Opolczynski G, Guyant-Marechal L, Le Ber I, Campion D. 2010. Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia. Br J Psychiatry 197: 28-35.
-
(2010)
Br J Psychiatry
, vol.197
, pp. 28-35
-
-
Schoder, D.1
Hannequin, D.2
Martinaud, O.3
Opolczynski, G.4
Guyant-Marechal, L.5
Le Ber, I.6
Campion, D.7
-
152
-
-
78649796826
-
Low serum progranulin predicts the presence of mutations: A prospective study
-
Schofield EC, Halliday GM, Kwok J, Loy C, Double KL, Hodges JR. 2010. Low serum progranulin predicts the presence of mutations: A prospective study. J Alzheimers Dis 22: 981-984.
-
(2010)
J Alzheimers Dis
, vol.22
, pp. 981-984
-
-
Schofield, E.C.1
Halliday, G.M.2
Kwok, J.3
Loy, C.4
Double, K.L.5
Hodges, J.R.6
-
153
-
-
79959587802
-
Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation
-
Scholl M, Almkvist O, Axelman K, Stefanova E, Wall A, Westman E, Langstrom B, Lannfelt L, Graff C, Nordberg A. 2011. Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation. Neurobiol Aging 32: 1388-1399.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 1388-1399
-
-
Scholl, M.1
Almkvist, O.2
Axelman, K.3
Stefanova, E.4
Wall, A.5
Westman, E.6
Langstrom, B.7
Lannfelt, L.8
Graff, C.9
Nordberg, A.10
-
154
-
-
56049111858
-
No association of TDP-43 with sporadic frontotemporal dementia
-
Schumacher A, Friedrich P, Diehl-Schmid J, Ibach B, Pernechzky R, Eisele T, Vukovich R, Foerstl H, Riemenschneider M. 2009. No association of TDP-43 with sporadic frontotemporal dementia. Neurobiol Aging 30: 157-159.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 157-159
-
-
Schumacher, A.1
Friedrich, P.2
Diehl-Schmid, J.3
Ibach, B.4
Pernechzky, R.5
Eisele, T.6
Vukovich, R.7
Foerstl, H.8
Riemenschneider, M.9
-
155
-
-
51449103708
-
Distinct genetic forms of frontotemporal dementia
-
Seelaar H, Kamphorst W, Rosso SM, Azmani A, Masdjedi R, de Koning I, Maat-Kievit JA, Anar B, Donker KL, Breedveld GJ, Dooijes D, Rozemuller JM, Bronner IF, Rizzu P, van Swieten JC. 2008. Distinct genetic forms of frontotemporal dementia. Neurology 71: 1220-1226.
-
(2008)
Neurology
, vol.71
, pp. 1220-1226
-
-
Seelaar, H.1
Kamphorst, W.2
Rosso, S.M.3
Azmani, A.4
Masdjedi, R.5
de Koning, I.6
Maat-Kievit, J.A.7
Anar, B.8
Donker, K.L.9
Breedveld, G.J.10
Dooijes, D.11
Rozemuller, J.M.12
Bronner, I.F.13
Rizzu, P.14
van Swieten, J.C.15
-
156
-
-
77954459337
-
Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration
-
Seelaar H, Klijnsma KY, de Koning I, van der Lugt A, Chiu WZ, Azmani A, Rozemuller AJ, van Swieten JC. 2010. Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration. J Neurol 257: 747-753.
-
(2010)
J Neurol
, vol.257
, pp. 747-753
-
-
Seelaar, H.1
Klijnsma, K.Y.2
de Koning, I.3
van der Lugt, A.4
Chiu, W.Z.5
Azmani, A.6
Rozemuller, A.J.7
van Swieten, J.C.8
-
157
-
-
38349173569
-
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion
-
Shankaran SS, Capell A, Hruscha AT, Fellerer K, Neumann M, Schmid B, Haass C. 2008. Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J Biol Chem 283: 1744-1753.
-
(2008)
J Biol Chem
, vol.283
, pp. 1744-1753
-
-
Shankaran, S.S.1
Capell, A.2
Hruscha, A.T.3
Fellerer, K.4
Neumann, M.5
Schmid, B.6
Haass, C.7
-
158
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
-
Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH. 1995. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760.
-
(1995)
Nature
, vol.375
, pp. 754-760
-
-
Sherrington, R.1
Rogaev, E.I.2
Liang, Y.3
Rogaeva, E.A.4
Levesque, G.5
Ikeda, M.6
Chi, H.7
Lin, C.8
Li, G.9
Holman, K.10
Tsuda, T.11
Mar, L.12
Foncin, J.F.13
Bruni, A.C.14
Montesi, M.P.15
Sorbi, S.16
Rainero, I.17
Pinessi, L.18
Nee, L.19
Chumakov, I.20
Pollen, D.21
Brookes, A.22
Sanseau, P.23
Polinsky, R.J.24
Wasco, W.25
Da Silva, H.A.26
Haines, J.L.27
Perkicak-Vance, M.A.28
Tanzi, R.E.29
Roses, A.D.30
Fraser, P.E.31
Rommens, J.M.32
St George-Hyslop, P.H.33
more..
-
159
-
-
84857516402
-
The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions
-
Simon-Sanchez J, Dopper E, Cohn-Hokke P, Hukema R, Nicolaou N, Seelaar H, de Graaf J, de Koning I, van Schoor N, Deeg D, Smits M, Raaphorst J, van den Berg L, Schelhaas H, De Die-Smulders C, Majoor-Krakauer D, Rozemuller A, Willemsen R, Pijnenburg Y, Heutink P, van Swieten J. 2012. The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain 135: 723-735.
-
(2012)
Brain
, vol.135
, pp. 723-735
-
-
Simon-Sanchez, J.1
Dopper, E.2
Cohn-Hokke, P.3
Hukema, R.4
Nicolaou, N.5
Seelaar, H.6
de Graaf, J.7
de Koning, I.8
van Schoor, N.9
Deeg, D.10
Smits, M.11
Raaphorst, J.12
van den Berg, L.13
Schelhaas, H.14
De Die-Smulders, C.15
Majoor-Krakauer, D.16
Rozemuller, A.17
Willemsen, R.18
Pijnenburg, Y.19
Heutink, P.20
van Swieten, J.21
more..
-
160
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sorensen SA, Gydesen S, Fisher EM, Collinge J. 2005. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 37: 806-808.
-
(2005)
Nat Genet
, vol.37
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
Chakrabarti, L.4
Lloyd, S.L.5
Hummerich, H.6
Nielsen, J.E.7
Hodges, J.R.8
Spillantini, M.G.9
Thusgaard, T.10
Brandner, S.11
Brun, A.12
Rossor, M.N.13
Gade, A.14
Johannsen, P.15
Sorensen, S.A.16
Gydesen, S.17
Fisher, E.M.18
Collinge, J.19
-
161
-
-
33750579333
-
APP duplication is sufficient to cause early onsheimer's dementia with cerebral amyloid angiopathy
-
Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, Del-Favero J, Cruts M, van Duijn CM, Van Broeckhoven C. 2006. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 129: 2977-2983.
-
(2006)
Brain
, vol.129
, pp. 2977-2983
-
-
Sleegers, K.1
Brouwers, N.2
Gijselinck, I.3
Theuns, J.4
Goossens, D.5
Wauters, J.6
Del-Favero, J.7
Cruts, M.8
van Duijn, C.M.9
Van Broeckhoven, C.10
-
162
-
-
56349119351
-
Linking Abeta and tau in late-onsheimer's disease: A dual pathway hypothesis
-
Small SA, Duff K. 2008. Linking Abeta and tau in late-onset Alzheimer's disease: A dual pathway hypothesis. Neuron 60: 534-542.
-
(2008)
Neuron
, vol.60
, pp. 534-542
-
-
Small, S.A.1
Duff, K.2
-
163
-
-
79959605078
-
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene
-
Snowden JS, Hu Q, Rollinson S, Halliwell N, Robinson A, Davidson YS, Momeni P, Baborie A, Griffiths TD, Jaros E, Perry RH, Richardson A, Pickering-Brown SM, Neary D, Mann DM. 2011. The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. Acta Neuropathol 122: 99-110.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 99-110
-
-
Snowden, J.S.1
Hu, Q.2
Rollinson, S.3
Halliwell, N.4
Robinson, A.5
Davidson, Y.S.6
Momeni, P.7
Baborie, A.8
Griffiths, T.D.9
Jaros, E.10
Perry, R.H.11
Richardson, A.12
Pickering-Brown, S.M.13
Neary, D.14
Mann, D.M.15
-
164
-
-
84863393065
-
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
-
Snowden J, Rollinson S, Thompson J, Harris J, Stopford C, Richardson A, Jones M, Gerhard A, Davidson Y, Robinson A, Gibbons L, Hu Q, Duplessis D, Neary D, Mann D, Pickering-Brown S. 2012. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135: 693-708.
-
(2012)
Brain
, vol.135
, pp. 693-708
-
-
Snowden, J.1
Rollinson, S.2
Thompson, J.3
Harris, J.4
Stopford, C.5
Richardson, A.6
Jones, M.7
Gerhard, A.8
Davidson, Y.9
Robinson, A.10
Gibbons, L.11
Hu, Q.12
Duplessis, D.13
Neary, D.14
Mann, D.15
Pickering-Brown, S.16
-
165
-
-
0032560487
-
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
-
Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B. 1998. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 95: 7737-7741.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 7737-7741
-
-
Spillantini, M.G.1
Murrell, J.R.2
Goedert, M.3
Farlow, M.R.4
Klug, A.5
Ghetti, B.6
-
166
-
-
0034762725
-
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia
-
Steinbart EJ, Smith CO, Poorkaj P, Bird TD. 2001. Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Arch Neurol 58: 1828-1831.
-
(2001)
Arch Neurol
, vol.58
, pp. 1828-1831
-
-
Steinbart, E.J.1
Smith, C.O.2
Poorkaj, P.3
Bird, T.D.4
-
167
-
-
0031800415
-
Familial aggregation in frontotemporal dementia
-
Stevens M, van Duijn CM, Kamphorst W, de Knijff P, Heutink P, van Gool WA, Scheltens P, Ravid R, Oostra BA, Niermeijer MF, van Swieten JC. 1998. Familial aggregation in frontotemporal dementia. Neurology 50: 1541-1545.
-
(1998)
Neurology
, vol.50
, pp. 1541-1545
-
-
Stevens, M.1
van Duijn, C.M.2
Kamphorst, W.3
de Knijff, P.4
Heutink, P.5
van Gool, W.A.6
Scheltens, P.7
Ravid, R.8
Oostra, B.A.9
Niermeijer, M.F.10
van Swieten, J.C.11
-
168
-
-
0030297259
-
Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients
-
Tanahashi H, Kawakatsu S, Kaneko M, Yamanaka H, Takahashi K, Tabira T. 1996. Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients. Neurosci Lett 218: 139-141.
-
(1996)
Neurosci Lett
, vol.218
, pp. 139-141
-
-
Tanahashi, H.1
Kawakatsu, S.2
Kaneko, M.3
Yamanaka, H.4
Takahashi, K.5
Tabira, T.6
-
169
-
-
79955477738
-
The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice
-
Tang W, Lu Y, Tian QY, Zhang Y, Guo FJ, Liu GY, Syed NM, Lai Y, Lin EA, Kong L, Su J, Yin F, Ding AH, Zanin-Zhorov A, Dustin ML, Tao J, Craft J, Yin Z, Feng JQ, Abramson SB, Yu XP, Liu CJ. 2011. The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice. Science 332: 478-484.
-
(2011)
Science
, vol.332
, pp. 478-484
-
-
Tang, W.1
Lu, Y.2
Tian, Q.Y.3
Zhang, Y.4
Guo, F.J.5
Liu, G.Y.6
Syed, N.M.7
Lai, Y.8
Lin, E.A.9
Kong, L.10
Su, J.11
Yin, F.12
Ding, A.H.13
Zanin-Zhorov, A.14
Dustin, M.L.15
Tao, J.16
Craft, J.17
Yin, Z.18
Feng, J.Q.19
Abramson, S.B.20
Yu, X.P.21
Liu, C.J.22
more..
-
170
-
-
18444382665
-
Familial frontotemporal dementia associated with a novel presenilin-1 mutation
-
Tang-Wai D, Lewis P, Boeve B, Hutton M, Golde T, Baker M, Hardy J, Michels V, Ivnik R, Jack C, Petersen R. 2002. Familial frontotemporal dementia associated with a novel presenilin-1 mutation. Dement Geriatr Cogn Disord 14: 13-21.
-
(2002)
Dement Geriatr Cogn Disord
, vol.14
, pp. 13-21
-
-
Tang-Wai, D.1
Lewis, P.2
Boeve, B.3
Hutton, M.4
Golde, T.5
Baker, M.6
Hardy, J.7
Michels, V.8
Ivnik, R.9
Jack, C.10
Petersen, R.11
-
171
-
-
57649221135
-
Amyloid precursor protein trafficking, processing, and function
-
Thinakaran G, Koo EH. 2008. Amyloid precursor protein trafficking, processing, and function. J Biol Chem 283: 29615-29619.
-
(2008)
J Biol Chem
, vol.283
, pp. 29615-29619
-
-
Thinakaran, G.1
Koo, E.H.2
-
172
-
-
77953872890
-
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
-
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE, Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL III, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, de Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S, Isaacs AM. 2010. FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol 120: 33-41.
-
(2010)
Acta Neuropathol
, vol.120
, pp. 33-41
-
-
Urwin, H.1
Josephs, K.A.2
Rohrer, J.D.3
Mackenzie, I.R.4
Neumann, M.5
Authier, A.6
Seelaar, H.7
van Swieten, J.C.8
Brown, J.M.9
Johannsen, P.10
Nielsen, J.E.11
Holm, I.E.12
Dickson, D.W.13
Rademakers, R.14
Graff-Radford, N.R.15
Parisi, J.E.16
Petersen, R.C.17
Hatanpaa, K.J.18
White III, C.L.19
Weiner, M.F.20
Geser, F.21
Van Deerlin, V.M.22
Trojanowski, J.Q.23
Miller, B.L.24
Seeley, W.W.25
van der Zee, J.26
Kumar-Singh, S.27
Engelborghs, S.28
de Deyn, P.P.29
Van Broeckhoven, C.30
Bigio, E.H.31
Deng, H.X.32
Halliday, G.M.33
Kril, J.J.34
Munoz, D.G.35
Mann, D.M.36
Pickering-Brown, S.M.37
Doodeman, V.38
Adamson, G.39
Ghazi-Noori, S.40
Fisher, E.M.41
Holton, J.L.42
Revesz, T.43
Rossor, M.N.44
Collinge, J.45
Mead, S.46
Isaacs, A.M.47
more..
-
173
-
-
34247868937
-
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
-
van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, de Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, de Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. 2007. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat 28: 416.
-
(2007)
Hum Mutat
, vol.28
, pp. 416
-
-
van der Zee, J.1
Le Ber, I.2
Maurer-Stroh, S.3
Engelborghs, S.4
Gijselinck, I.5
Camuzat, A.6
Brouwers, N.7
Vandenberghe, R.8
Sleegers, K.9
Hannequin, D.10
Dermaut, B.11
Schymkowitz, J.12
Campion, D.13
Santens, P.14
Martin, J.J.15
Lacomblez, L.16
de Pooter, T.17
Peeters, K.18
Mattheijssens, M.19
Vercelletto, M.20
Van den Broeck, M.21
Cruts, M.22
de Deyn, P.P.23
Rousseau, F.24
Brice, A.25
Van Broeckhoven, C.26
more..
-
174
-
-
37849023471
-
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
-
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, de Pooter T, Peeters K, Santens P, de Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. 2008. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet 17: 313-322.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 313-322
-
-
van der Zee, J.1
Urwin, H.2
Engelborghs, S.3
Bruyland, M.4
Vandenberghe, R.5
Dermaut, B.6
de Pooter, T.7
Peeters, K.8
Santens, P.9
de Deyn, P.P.10
Fisher, E.M.11
Collinge, J.12
Isaacs, A.M.13
Van Broeckhoven, C.14
-
175
-
-
69449108742
-
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
-
van der Zee J, Pirici D, van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, de Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C. 2009. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. Neurology 73: 626-632.
-
(2009)
Neurology
, vol.73
, pp. 626-632
-
-
van der Zee, J.1
Pirici, D.2
van Langenhove, T.3
Engelborghs, S.4
Vandenberghe, R.5
Hoffmann, M.6
Pusswald, G.7
Van den Broeck, M.8
Peeters, K.9
Mattheijssens, M.10
Martin, J.J.11
de Deyn, P.P.12
Cruts, M.13
Haubenberger, D.14
Kumar-Singh, S.15
Zimprich, A.16
Van Broeckhoven, C.17
-
176
-
-
0142177169
-
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
-
van Herpen E, Rosso SM, Serverijnen LA, Yoshida H, Breedveld G, van de Graaf R, Kamphorst W, Ravid R, Willemsen R, Dooijes D, Majoor-Krakauer D, Kros JM, Crowther RA, Goedert M, Heutink P, van Swieten JC. 2003. Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R. Ann Neurol 54: 573-581.
-
(2003)
Ann Neurol
, vol.54
, pp. 573-581
-
-
van Herpen, E.1
Rosso, S.M.2
Serverijnen, L.A.3
Yoshida, H.4
Breedveld, G.5
van de Graaf, R.6
Kamphorst, W.7
Ravid, R.8
Willemsen, R.9
Dooijes, D.10
Majoor-Krakauer, D.11
Kros, J.M.12
Crowther, R.A.13
Goedert, M.14
Heutink, P.15
van Swieten, J.C.16
-
177
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mattheijssens M, Peeters K, de Deyn PP, Cruts M, Van Broeckhoven C. 2010. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 74: 366-371.
-
(2010)
Neurology
, vol.74
, pp. 366-371
-
-
van Langenhove, T.1
van der Zee, J.2
Sleegers, K.3
Engelborghs, S.4
Vandenberghe, R.5
Gijselinck, I.6
Van den Broeck, M.7
Mattheijssens, M.8
Peeters, K.9
de Deyn, P.P.10
Cruts, M.11
Van Broeckhoven, C.12
-
178
-
-
33847194237
-
Hereditary frontotemporal dementia caused by Tau gene mutations
-
Van Swieten J, Spillantini MG. 2007. Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17: 63-73.
-
(2007)
Brain Pathol
, vol.17
, pp. 63-73
-
-
Van Swieten, J.1
Spillantini, M.G.2
-
179
-
-
73549108133
-
High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types
-
Villemagne VL, Ataka S, Mizuno T, Brooks WS, Wada Y, Kondo M, Jones G, Watanabe Y, Mulligan R, Nakagawa M, Miki T, Shimada H, O'Keefe GJ, Masters CL, Mori H, Rowe CC. 2009. High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. Arch Neurol 66: 1537-1544.
-
(2009)
Arch Neurol
, vol.66
, pp. 1537-1544
-
-
Villemagne, V.L.1
Ataka, S.2
Mizuno, T.3
Brooks, W.S.4
Wada, Y.5
Kondo, M.6
Jones, G.7
Watanabe, Y.8
Mulligan, R.9
Nakagawa, M.10
Miki, T.11
Shimada, H.12
O'Keefe, G.J.13
Masters, C.L.14
Mori, H.15
Rowe, C.C.16
-
180
-
-
69949112773
-
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review
-
Wardle M, Morris HR, Robertson NP. 2009. Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review. Mov Disord 24: 1636-1640.
-
(2009)
Mov Disord
, vol.24
, pp. 1636-1640
-
-
Wardle, M.1
Morris, H.R.2
Robertson, N.P.3
-
181
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. 2004. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 36: 377-381.
-
(2004)
Nat Genet
, vol.36
, pp. 377-381
-
-
Watts, G.D.1
Wymer, J.2
Kovach, M.J.3
Mehta, S.G.4
Mumm, S.5
Darvish, D.6
Pestronk, A.7
Whyte, M.P.8
Kimonis, V.E.9
-
182
-
-
62849095858
-
Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN
-
Whitwell JL, Jack CR Jr, Boeve BF, Senjem ML, Baker M, Rademakers R, Ivnik RJ, Knopman DS, Wszolek ZK, Petersen RC, Josephs KA. 2009. Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN. Neurology 72: 813-820.
-
(2009)
Neurology
, vol.72
, pp. 813-820
-
-
Whitwell, J.L.1
Jack Jr, C.R.2
Boeve, B.F.3
Senjem, M.L.4
Baker, M.5
Rademakers, R.6
Ivnik, R.J.7
Knopman, D.S.8
Wszolek, Z.K.9
Petersen, R.C.10
Josephs, K.A.11
-
183
-
-
77956357112
-
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
-
Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, Liu E, Donkervoort S, Zheng JG, Shi Y, Ahmeti KB, Brooks B, Engel WK, Siddique T. 2010. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 75: 807-814.
-
(2010)
Neurology
, vol.75
, pp. 807-814
-
-
Yan, J.1
Deng, H.X.2
Siddique, N.3
Fecto, F.4
Chen, W.5
Yang, Y.6
Liu, E.7
Donkervoort, S.8
Zheng, J.G.9
Shi, Y.10
Ahmeti, K.B.11
Brooks, B.12
Engel, W.K.13
Siddique, T.14
-
184
-
-
76149123541
-
The spectrum of mutations in progranulin: A collaborative study screening 545 cases of neurodegeneration
-
Yu CE, Bird TD, Bekris LM, Montine TJ, Leverenz JB, Steinbart E, Galloway NM, Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, Danek A, Galasko DR, Arnold SE, Chen-Plotkin A, Karydas A, Miller BL, Trojanowski JQ, Lee VMY, Schellenberg GD, Van Deerlin VM. 2010. The spectrum of mutations in progranulin: A collaborative study screening 545 cases of neurodegeneration. Arch Neurol 67: 161-170.
-
(2010)
Arch Neurol
, vol.67
, pp. 161-170
-
-
Yu, C.E.1
Bird, T.D.2
Bekris, L.M.3
Montine, T.J.4
Leverenz, J.B.5
Steinbart, E.6
Galloway, N.M.7
Feldman, H.8
Woltjer, R.9
Miller, C.A.10
Wood, E.M.11
Grossman, M.12
McCluskey, L.13
Clark, C.M.14
Neumann, M.15
Danek, A.16
Galasko, D.R.17
Arnold, S.E.18
Chen-Plotkin, A.19
Karydas, A.20
Miller, B.L.21
Trojanowski, J.Q.22
Lee, V.M.Y.23
Schellenberg, G.D.24
Van Deerlin, V.M.25
more..
|