-
1
-
-
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..
-
2
-
-
28244484775
-
A systematic review of prevalence and incidence studies of dementia with Lewy bodies
-
DOI 10.1093/ageing/afi190
-
Zaccai J, McCracken C, Brayne C (2005) A systematic review of prevalence and incidence studies of dementia with Lewy bodies. Age Ageing 34, 561-566. (Pubitemid 41699997)
-
(2005)
Age and Ageing
, vol.34
, Issue.6
, pp. 561-566
-
-
Zaccai, J.1
McCracken, C.2
Brayne, C.3
-
3
-
-
34548222135
-
A novel locus for dementia with Lewy bodies: A clinically and genetically heterogeneous disorder
-
Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der ZJ, Sleegers K, Peeters K, Martin JJ, Del Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C (2007) A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder. Brain 130, 2277-2291.
-
(2007)
Brain
, vol.130
, pp. 2277-2291
-
-
Bogaerts, V.1
Engelborghs, S.2
Kumar-Singh, S.3
Goossens, D.4
Pickut, B.5
Van Der, Z.J.6
Sleegers, K.7
Peeters, K.8
Martin, J.J.9
Del Favero, J.10
Gasser, T.11
Dickson, D.W.12
Wszolek, Z.K.13
De Deyn, P.P.14
Theuns, J.15
Van Broeckhoven, C.16
-
4
-
-
0030875763
-
Familial parkinsonism, dementia, and Lewy body disease: Study of family G
-
Denson MA, Wszolek ZK, Pfeiffer RF, Wszolek EK, Paschall TM, McComb RD (1997) Familial parkinsonism, dementia, and Lewy body disease: study of family G. Ann Neurol 42, 638-643.
-
(1997)
Ann Neurol
, vol.42
, pp. 638-643
-
-
Denson, M.A.1
Wszolek, Z.K.2
Pfeiffer, R.F.3
Wszolek, E.K.4
Paschall, T.M.5
McComb, R.D.6
-
5
-
-
0037044258
-
Familial dementia with Lewy bodies: Clinicopathologic analysis of two kindreds
-
Galvin JE, Lee SL, Perry A, Havlioglu N, McKeel DW, Jr., Morris JC (2002) Familial dementia with Lewy bodies: clinicopathologic analysis of two kindreds. Neurology 59, 1079-1082.
-
(2002)
Neurology
, vol.59
, pp. 1079-1082
-
-
Galvin, J.E.1
Lee, S.L.2
Perry, A.3
Havlioglu, N.4
McKeel Jr., D.W.5
Morris, J.C.6
-
6
-
-
0025344485
-
A large kindred with autosomal dominant Parkinson's disease
-
Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC (1990) A large kindred with autosomal dominant Parkinson's disease. Ann Neurol 27, 276-282.
-
(1990)
Ann Neurol
, vol.27
, pp. 276-282
-
-
Golbe, L.I.1
Di Iorio, G.2
Bonavita, V.3
Miller, D.C.4
Duvoisin, R.C.5
-
7
-
-
0036790781
-
Familial dementia with lewy bodies: A clinical and neuropathological study of 2 families
-
Tsuang DW, Dalan AM, Eugenio CJ, Poorkaj P, Limprasert P, La Spada AR, Steinbart EJ, Bird TD, Leverenz JB (2002) Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families. Arch Neurol 59, 1622-1630.
-
(2002)
Arch Neurol
, vol.59
, pp. 1622-1630
-
-
Tsuang, D.W.1
Dalan, A.M.2
Eugenio, C.J.3
Poorkaj, P.4
Limprasert, P.5
La Spada, A.R.6
Steinbart, E.J.7
Bird, T.D.8
Leverenz, J.B.9
-
8
-
-
0028127866
-
Autosomal dominant Lewy body parkinsonism in a four-generation family
-
Waters CH, Miller CA (1994) Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann Neurol 35, 59-64.
-
(1994)
Ann Neurol
, vol.35
, pp. 59-64
-
-
Waters, C.H.1
Miller, C.A.2
-
9
-
-
0032853886
-
Familial dementia with Lewy bodies (DLB)
-
Ohara K, Takauchi S, Kokai M, Morimura Y, Nakajima T, Morita Y (1999) Familial dementia with Lewy bodies (DLB). Clin Neuropathol 18, 232-239.
-
(1999)
Clin Neuropathol
, vol.18
, pp. 232-239
-
-
Ohara, K.1
Takauchi, S.2
Kokai, M.3
Morimura, Y.4
Nakajima, T.5
Morita, Y.6
-
10
-
-
63849331457
-
Intrafamilial diversity of phenotype associated with app duplication
-
Guyant-Marechal I, Berger E, Laquerriere A, Rovelet-Lecrux A, Viennet G, Frebourg T, Rumbach L, Campion D, Hannequin D (2008) Intrafamilial diversity of phenotype associated with app duplication. Neurology 71, 1925-1926.
-
(2008)
Neurology
, vol.71
, pp. 1925-1926
-
-
Guyant-Marechal, I.1
Berger, E.2
Laquerriere, A.3
Rovelet-Lecrux, A.4
Viennet, G.5
Frebourg, T.6
Rumbach, L.7
Campion, D.8
Hannequin, D.9
-
11
-
-
14844292710
-
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease
-
Ishikawa A, Piao YS, Miyashita A, Kuwano R, Onodera O, Ohtake H, Suzuki M, Nishizawa M, Takahashi H (2005) A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. Ann Neurol 57, 429-434.
-
(2005)
Ann Neurol
, vol.57
, pp. 429-434
-
-
Ishikawa, A.1
Piao, Y.S.2
Miyashita, A.3
Kuwano, R.4
Onodera, O.5
Ohtake, H.6
Suzuki, M.7
Nishizawa, M.8
Takahashi, H.9
-
12
-
-
42549132950
-
A novel PSEN2 mutation associated with a peculiar phenotype
-
Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A (2008) A novel PSEN2 mutation associated with a peculiar phenotype. Neurology 70, 1549-1554.
-
(2008)
Neurology
, vol.70
, pp. 1549-1554
-
-
Piscopo, P.1
Marcon, G.2
Piras, M.R.3
Crestini, A.4
Campeggi, L.M.5
Deiana, E.6
Cherchi, R.7
Tanda, F.8
Deplano, A.9
Vanacore, N.10
Tagliavini, F.11
Pocchiari, M.12
Giaccone, G.13
Confaloni, A.14
-
13
-
-
0037180480
-
A patient with dementia with Lewy bodies and codon 232 mutation of PRNP
-
Koide T, Ohtake H, Nakajima T, Furukawa H, Sakai K, Kamei H, Makifuchi T, Fukuhara N (2002) A patient with dementia with Lewy bodies and codon 232 mutation of PRNP. Neurology 59, 1619-1621.
-
(2002)
Neurology
, vol.59
, pp. 1619-1621
-
-
Koide, T.1
Ohtake, H.2
Nakajima, T.3
Furukawa, H.4
Sakai, K.5
Kamei, H.6
Makifuchi, T.7
Fukuhara, N.8
-
14
-
-
33750524442
-
Dementia with Lewy bodies in an elderly Greek male due to alpha-synuclein gene mutation
-
Morfis L, Cordato DJ (2006) Dementia with Lewy bodies in an elderly Greek male due to alpha-synuclein gene mutation. J Clin Neurosci 13, 942-944.
-
(2006)
J Clin Neurosci
, vol.13
, pp. 942-944
-
-
Morfis, L.1
Cordato, D.J.2
-
15
-
-
0242300619
-
Alpha-Synuclein locus triplication causes Parkinson's disease
-
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302, 841.
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
Hulihan, M.7
Peuralinna, T.8
Dutra, A.9
Nussbaum, R.10
Lincoln, S.11
Crawley, A.12
Hanson, M.13
Maraganore, D.14
Adler, C.15
Cookson, M.R.16
Muenter, M.17
Baptista, M.18
Miller, D.19
Blancato, J.20
Hardy, J.21
Gwinn-Hardy, K.22
more..
-
16
-
-
10744230149
-
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia
-
Zarranz JJ, Alegre J, Gomez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atares B, Llorens V, Gomez TE, del Ser T, Munoz DG, de Yebenes JG (2004) The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55, 164-173.
-
(2004)
Ann Neurol
, vol.55
, pp. 164-173
-
-
Zarranz, J.J.1
Alegre, J.2
Gomez-Esteban, J.C.3
Lezcano, E.4
Ros, R.5
Ampuero, I.6
Vidal, L.7
Hoenicka, J.8
Rodriguez, O.9
Atares, B.10
Llorens, V.11
Gomez, T.E.12
Del Ser, T.13
Munoz, D.G.14
De Yebenes, J.G.15
-
17
-
-
4644359042
-
Beta-synuclein gene alterations in dementia with Lewy bodies
-
Ohtake H, Limprasert P, Fan Y, Onodera O, Kakita A, Takahashi H, Bonner LT, Tsuang DW, Murray IV, Lee VM, Trojanowski JQ, Ishikawa A, Idezuka J, Murata M, Toda T, Bird TD, Leverenz JB, Tsuji S, La Spada AR (2004) Beta-synuclein gene alterations in dementia with Lewy bodies. Neurology 63, 805-811.
-
(2004)
Neurology
, vol.63
, pp. 805-811
-
-
Ohtake, H.1
Limprasert, P.2
Fan, Y.3
Onodera, O.4
Kakita, A.5
Takahashi, H.6
Bonner, L.T.7
Tsuang, D.W.8
Murray, I.V.9
Lee, V.M.10
Trojanowski, J.Q.11
Ishikawa, A.12
Idezuka, J.13
Murata, M.14
Toda, T.15
Bird, T.D.16
Leverenz, J.B.17
Tsuji, S.18
La Spada, A.R.19
-
18
-
-
34748853923
-
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease
-
Haubenberger D, Bonelli S, Hotzy C, Leitner P, Lichtner P, Samal D, Katzenschlager R, Djamshidian A, Brucke T, Steffelbauer M, Bancher C, Grossmann J, Ransmayr G, Strom TM, Meitinger T, Gasser T, Auff E, Zimprich A (2007) A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease. Mov Disord 22, 1640-1643.
-
(2007)
Mov Disord
, vol.22
, pp. 1640-1643
-
-
Haubenberger, D.1
Bonelli, S.2
Hotzy, C.3
Leitner, P.4
Lichtner, P.5
Samal, D.6
Katzenschlager, R.7
Djamshidian, A.8
Brucke, T.9
Steffelbauer, M.10
Bancher, C.11
Grossmann, J.12
Ransmayr, G.13
Strom, T.M.14
Meitinger, T.15
Gasser, T.16
Auff, E.17
Zimprich, A.18
-
19
-
-
32044466285
-
Lrrk2 and Lewy body disease
-
Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, DicksonDW(2006) Lrrk2 and Lewy body disease. Ann Neurol 59, 388-393.
-
(2006)
Ann Neurol
, vol.59
, pp. 388-393
-
-
Ross, O.A.1
Toft, M.2
Whittle, A.J.3
Johnson, J.L.4
Papapetropoulos, S.5
Mash, D.C.6
Litvan, I.7
Gordon, M.F.8
Wszolek, Z.K.9
Farrer, M.J.10
Dickson, D.W.11
-
20
-
-
66249129677
-
Association of glucocerebrosidase mutations with dementia with lewy bodies
-
Clark LN, Kartsaklis LA, Wolf GR, Dorado B, Ross BM, Kisselev S, Verbitsky M, Mejia-Santana H, Cote LJ, Andrews H, Vonsattel JP, Fahn S, Mayeux R, Honig LS, Marder K (2009) Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch Neurol 66, 578-583.
-
(2009)
Arch Neurol
, vol.66
, pp. 578-583
-
-
Clark, L.N.1
Kartsaklis, L.A.2
Wolf, G.R.3
Dorado, B.4
Ross, B.M.5
Kisselev, S.6
Verbitsky, M.7
Mejia-Santana, H.8
Cote, L.J.9
Andrews, H.10
Vonsattel, J.P.11
Fahn, S.12
Mayeux, R.13
Honig, L.S.14
Marder, K.15
-
21
-
-
67449090672
-
Glucosidase-beta variations and Lewy body disorders
-
Farrer MJ, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW (2008) Glucosidase-beta variations and Lewy body disorders. Parkinsonism Relat Disord 15, 414-416.
-
(2008)
Parkinsonism Relat Disord
, vol.15
, pp. 414-416
-
-
Farrer, M.J.1
Williams, L.N.2
Algom, A.A.3
Kachergus, J.4
Hulihan, M.M.5
Ross, O.A.6
Rajput, A.7
Papapetropoulos, S.8
Mash, D.C.9
Dickson, D.W.10
-
22
-
-
33748304674
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
-
Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E (2006) Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 67, 908-910.
-
(2006)
Neurology
, vol.67
, pp. 908-910
-
-
Goker-Alpan, O.1
Giasson, B.I.2
Eblan, M.J.3
Nguyen, J.4
Hurtig, H.I.5
Lee, V.M.6
Trojanowski, J.Q.7
Sidransky, E.8
-
23
-
-
40849120549
-
Glucocerebrosidase gene mutations: A risk factor for Lewy body disorders
-
Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP (2008) Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 65, 379-382.
-
(2008)
Arch Neurol
, vol.65
, pp. 379-382
-
-
Mata, I.F.1
Samii, A.2
Schneer, S.H.3
Roberts, J.W.4
Griffith, A.5
Leis, B.C.6
Schellenberg, G.D.7
Sidransky, E.8
Bird, T.D.9
Leverenz, J.B.10
Tsuang, D.11
Zabetian, C.P.12
-
24
-
-
0032231941
-
PedCheck: A program for identification of genotype incompatibilities in linkage analysis
-
O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63, 259-266.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 259-266
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
25
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37, 482-498.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 482-498
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
26
-
-
33646568805
-
Gene prioritization through genomic data fusion
-
Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, Carmeliet P, Moreau Y (2006) Gene prioritization through genomic data fusion. Nat Biotechnol 24, 537-544.
-
(2006)
Nat Biotechnol
, vol.24
, pp. 537-544
-
-
Aerts, S.1
Lambrechts, D.2
Maity, S.3
Van Loo, P.4
Coessens, B.5
De Smet, F.6
Tranchevent, L.C.7
De Moor, B.8
Marynen, P.9
Hassan, B.10
Carmeliet, P.11
Moreau, Y.12
-
27
-
-
15544369976
-
NovoSNP, a novel computational tool for sequence variation discovery
-
Weckx S, Del Favero J, Rademakers R, Claes L, Cruts M, De Jonghe P, Van Broeckhoven C, De Rijk P (2005) novoSNP, a novel computational tool for sequence variation discovery. Genome Res 15, 436-442.
-
(2005)
Genome Res
, vol.15
, pp. 436-442
-
-
Weckx, S.1
Del Favero, J.2
Rademakers, R.3
Claes, L.4
Cruts, M.5
De Jonghe, P.6
Van Broeckhoven, C.7
De Rijk, P.8
-
28
-
-
34248523183
-
CGHcall: Calling aberrations for array CGH tumor profiles
-
van de Wiel MA, Kim KI, Vosse SJ, van Wieringen WN, Wilting SM, Ylstra B (2007) CGHcall: calling aberrations for array CGH tumor profiles. Bioinformatics 23, 892-894.
-
(2007)
Bioinformatics
, vol.23
, pp. 892-894
-
-
Van De Wiel, M.A.1
Kim, K.I.2
Vosse, S.J.3
Van Wieringen, W.N.4
Wilting, S.M.5
Ylstra, B.6
-
29
-
-
0034639656
-
Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression
-
Theuns J, Del-Favero J, Dermaut B, van Duijn CM, Backhovens H, Van den Broeck M, Serneels S, Corsmit E, Van Broeckhoven C, Cruts M (2000) Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. Hum Mol Genet 9, 325-331.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 325-331
-
-
Theuns, J.1
Del-Favero, J.2
Dermaut, B.3
Van Duijn, C.M.4
Backhovens, H.5
Van Den Broeck, M.6
Serneels, S.7
Corsmit, E.8
Van Broeckhoven, C.9
Cruts, M.10
-
30
-
-
33646886350
-
Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease
-
Theuns J, Brouwers N, Engelborghs S, Sleegers K, Bogaerts V, Corsmit E, De Pooter T, van Duijn CM, De Deyn PP, Van Broeckhoven C (2006) Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease. Am J Hum Genet 78, 936-946.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 936-946
-
-
Theuns, J.1
Brouwers, N.2
Engelborghs, S.3
Sleegers, K.4
Bogaerts, V.5
Corsmit, E.6
De Pooter, T.7
Van Duijn, C.M.8
De Deyn, P.P.9
Van Broeckhoven, C.10
-
31
-
-
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
-
32
-
-
33750579333
-
APP duplication is sufficient to cause early onset Alzheimer'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
-
33
-
-
67649637695
-
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population
-
Nuytemans K, Meeus B, Crosiers D, Brouwers N, Goossens D, Engelborghs S, Pals P, Pickut B, Van den Broeck M, Corsmit E, Cras P, De Deyn PP, Del-Favero J, Van BC, Theuns J (2009) Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. Hum Mutat 30, 1054-1061.
-
(2009)
Hum Mutat
, vol.30
, pp. 1054-1061
-
-
Nuytemans, K.1
Meeus, B.2
Crosiers, D.3
Brouwers, N.4
Goossens, D.5
Engelborghs, S.6
Pals, P.7
Pickut, B.8
Van Den Broeck, M.9
Corsmit, E.10
Cras, P.11
De Deyn, P.P.12
Del-Favero, J.13
Van Bc Theuns, J.14
-
34
-
-
61349104285
-
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
-
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder- Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Crollius HR, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41, 359-364.
-
(2009)
Nat Genet
, vol.41
, pp. 359-364
-
-
Benko, S.1
Fantes, J.A.2
Amiel, J.3
Kleinjan, D.J.4
Thomas, S.5
Ramsay, J.6
Jamshidi, N.7
Essafi, A.8
Heaney, S.9
Gordon, C.T.10
McBride, D.11
Golzio, C.12
Fisher, M.13
Perry, P.14
Abadie, V.15
Ayuso, C.16
Holder- Espinasse, M.17
Kilpatrick, N.18
Lees, M.M.19
Picard, A.20
Temple, I.K.21
Thomas, P.22
Vazquez, M.P.23
Vekemans, M.24
Crollius, H.R.25
Hastie, N.D.26
Munnich, A.27
Etchevers, H.C.28
Pelet, A.29
Farlie, P.G.30
Fitzpatrick, D.R.31
Lyonnet, S.32
more..
-
35
-
-
59749094710
-
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
-
Davis RL, Homer VM, George PM, Brennan SO (2009) A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat 30, 221-227.
-
(2009)
Hum Mutat
, vol.30
, pp. 221-227
-
-
Davis, R.L.1
Homer, V.M.2
George, P.M.3
Brennan, S.O.4
-
36
-
-
61649121051
-
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations
-
Pros E, Fernandez-Rodriguez J, Canet B, Benito L, Sanchez A, Benavides A, Ramos FJ, Lopez-Ariztegui MA, Capella G, Blanco I, Serra E, Lazaro C (2009) Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat 30, 454-462.
-
(2009)
Hum Mutat
, vol.30
, pp. 454-462
-
-
Pros, E.1
Fernandez-Rodriguez, J.2
Canet, B.3
Benito, L.4
Sanchez, A.5
Benavides, A.6
Ramos, F.J.7
Lopez-Ariztegui, M.A.8
Capella, G.9
Blanco, I.10
Serra, E.11
Lazaro, C.12
-
37
-
-
66749140994
-
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia
-
Vega AI, Perez-Cerda C, Desviat LR, Matthijs G, Ugarte M, Perez B (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat 30,795-803.
-
(2009)
Hum Mutat
, vol.30
, pp. 795-803
-
-
Vega, A.I.1
Perez-Cerda, C.2
Desviat, L.R.3
Matthijs, G.4
Ugarte, M.5
Perez, B.6
-
38
-
-
4344676234
-
Pathological entity of dementia with Lewy bodies and its differentiation from Alzheimer's disease
-
MaruiW, Iseki E, Kato M, Akatsu H, Kosaka K (2004) Pathological entity of dementia with Lewy bodies and its differentiation from Alzheimer's disease. Acta Neuropathol 108, 121-128.
-
(2004)
Acta Neuropathol
, vol.108
, pp. 121-128
-
-
Maruiw Iseki, E.1
Kato, M.2
Akatsu, H.3
Kosaka, K.4
|