-
2
-
-
79953854897
-
Alzheimer's disease: The challenge of the second century
-
Holtzman DM, Morris JC, Goate AM: Alzheimer's disease: the challenge of the second century. Sci Transl Med 2011; 3: 77sr1.
-
(2011)
Sci Transl Med
, vol.3
, pp. 77sr1
-
-
Holtzman, D.M.1
Morris, J.C.2
Goate, A.M.3
-
3
-
-
77955312709
-
The diagnosis of young-onset dementia
-
Rossor MN, Fox NC, Mummery CJ, Schott JM, Warren JD: The diagnosis of young-onset dementia. Lancet Neurol 2010; 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
-
4
-
-
84876778440
-
From frontotemporal lobar degeneration pathology to frontotemporal lobar degeneration biomarkers
-
Hales CM, Hu WT: From frontotemporal lobar degeneration pathology to frontotemporal lobar degeneration biomarkers. Int Rev Psychiatry 2013; 25: 210-220.
-
(2013)
Int Rev Psychiatry
, vol.25
, pp. 210-220
-
-
Hales, C.M.1
Hu, W.T.2
-
5
-
-
78650420189
-
Identifying and validating biomarkers for Alzheimer's disease
-
Humpel C: Identifying and validating biomarkers for Alzheimer's disease. Trends Biotechnol 2011; 29: 26-32.
-
(2011)
Trends Biotechnol
, vol.29
, pp. 26-32
-
-
Humpel, C.1
-
6
-
-
84885028399
-
Biomarkers in Alzheimer's disease: A review
-
Chintamaneni M, Bhaskar M: Biomarkers in Alzheimer's disease: a review. ISRN Pharmacol 2012; 2012: 984786.
-
(2012)
ISRN Pharmacol
, vol.2012
, pp. 984786
-
-
Chintamaneni, M.1
Bhaskar, M.2
-
7
-
-
78650523170
-
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation
-
Ringman J, Gylys K, Medina L, Fox M: Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation. Neurosci Lett 2011; 487: 287-292.
-
(2011)
Neurosci Lett
, vol.487
, pp. 287-292
-
-
Ringman, J.1
Gylys, K.2
Medina, L.3
Fox, M.4
-
8
-
-
84862995971
-
The French series of autosomal dominant early onset Alzheimer's disease cases: Mutation spectrum and cerebro-spinal fluid biomarkers
-
Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, et al: The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebro-spinal fluid biomarkers. J Alzheimers Dis 2012; 30: 847-856.
-
(2012)
J Alzheimers Dis
, vol.30
, pp. 847-856
-
-
Wallon, D.1
Rousseau, S.2
Rovelet-Lecrux, A.3
Quillard-Muraine, M.4
Guyant-Maréchal, L.5
Martinaud, O.6
-
9
-
-
84855608798
-
Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations
-
Ringman JM, Schulman H, Becker C, Jones T, Bai Y, Immermann F, et al: Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations. Arch Neurol 2012; 69: 96-104.
-
(2012)
Arch Neurol
, vol.69
, pp. 96-104
-
-
Ringman, J.M.1
Schulman, H.2
Becker, C.3
Jones, T.4
Bai, Y.5
Immermann, F.6
-
10
-
-
84856919991
-
Cerebrospinal fluid biomarkers and proximity to diagnosis in preclinical familial Alzheimer's disease
-
Ringman JM, Coppola G, Elashoff D, Rodriguez-Agudelo Y, Medina LD, Gylys K, et al: Cerebrospinal fluid biomarkers and proximity to diagnosis in preclinical familial Alzheimer's disease. Dement Geriatr Cogn Disord 2012; 33: 1-5.
-
(2012)
Dement Geriatr Cogn Disord
, vol.33
, pp. 1-5
-
-
Ringman, J.M.1
Coppola, G.2
Elashoff, D.3
Rodriguez-Agudelo, Y.4
Medina, L.D.5
Gylys, K.6
-
11
-
-
84865529158
-
Clinical and biomarker changes in domi-nantly inherited Alzheimer's disease
-
Bateman RJ, Xiong C, Benzinger TLS, Fagan AM, Goate A, Fox NC, et al: Clinical and biomarker changes in domi-nantly inherited Alzheimer's disease. N Engl J Med 2012; 367: 795-804.
-
(2012)
N Engl J Med
, vol.367
, pp. 795-804
-
-
Bateman, R.J.1
Xiong, C.2
Tls, B.3
Fagan, A.M.4
Goate, A.5
Fox, N.C.6
-
12
-
-
84863859181
-
Low PiB PET retention in presence of pathologic CSF biomarkers in Arctic APP mutation carriers
-
Schöll M, Wall A, Thordardottir S, Ferreira D, Bogdanovic N, Långström B, et al: Low PiB PET retention in presence of pathologic CSF biomarkers in Arctic APP mutation carriers. Neurology 2012; 79: 229-236.
-
(2012)
Neurology
, vol.79
, pp. 229-236
-
-
Schöll, M.1
Wall, A.2
Thordardottir, S.3
Ferreira, D.4
Bogdanovic, N.5
Långström, B.6
-
13
-
-
84897505354
-
Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease
-
Fagan AM, Xiong C, Jasielec MS, Bateman RJ, Goate AM, Benzinger TLS, et al: Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease. Sci Transl Med 2014; 6: 226ra30.
-
(2014)
Sci Transl Med
, vol.6
, pp. 226ra30
-
-
Fagan, A.M.1
Xiong, C.2
Jasielec, M.S.3
Bateman, R.J.4
Goate, A.M.5
Tls, B.6
-
14
-
-
84896134067
-
A novel presenilin 1 mutation (Ala 275Val) as cause of early-onset familial Alzheimer disease
-
Luedecke D, Becktepe JS, Lehmbeck JT, Finckh U, Yamamoto R, Jahn H, et al: A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. Neurosci Lett 2014; 566: 115-119.
-
(2014)
Neurosci Lett
, vol.566
, pp. 115-119
-
-
Luedecke, D.1
Becktepe, J.S.2
Lehmbeck, J.T.3
Finckh, U.4
Yamamoto, R.5
Jahn, H.6
-
15
-
-
84937524011
-
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia
-
Testi S, Peluso S, Fabrizi GM, Antenora A, Russo CV, Pappatà S, et al: A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia. J Alzheimers Dis 2014; 41: 709-714.
-
(2014)
J Alzheimers Dis
, vol.41
, pp. 709-714
-
-
Testi, S.1
Peluso, S.2
Fabrizi, G.M.3
Antenora, A.4
Russo, C.V.5
Pappatà, S.6
-
16
-
-
0036839412
-
Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's disease
-
Matsushita S, Arai H, Okamura N, Ohmori T, Takasugi K, Matsui T, et al: Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's disease. Biol Psychiatry 2002; 52: 907-910.
-
(2002)
Biol Psychiatry
, vol.52
, pp. 907-910
-
-
Matsushita, S.1
Arai, H.2
Okamura, N.3
Ohmori, T.4
Takasugi, K.5
Matsui, T.6
-
17
-
-
79955813252
-
Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations
-
Fortea J, Lladó A, Bosch B, Antonell A, Oliva R, Molinuevo JL, et al: Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations. Neurodegener Dis 2011; 8: 202-207.
-
(2011)
Neurodegener Dis
, vol.8
, pp. 202-207
-
-
Fortea, J.1
Lladó, A.2
Bosch, B.3
Antonell, A.4
Oliva, R.5
Molinuevo, J.L.6
-
18
-
-
0030944034
-
A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI
-
Aoki M, Abe K, Oda N, Ikeda M, Tsuda T, et al: A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology 1997; 48: 1118-1120.
-
(1997)
Neurology
, vol.48
, pp. 1118-1120
-
-
Aoki, M.1
Abe, K.2
Oda, N.3
Ikeda, M.4
Tsuda, T.5
-
20
-
-
47549117283
-
Biochemical markers in persons with preclinical familial Alzheimer disease
-
Ringman JM, Younkin SG, Pratico D, Seltzer W, Cole GM, Geschwind DH, et al: Biochemical markers in persons with preclinical familial Alzheimer disease. Neurology 2008; 71: 85-92.
-
(2008)
Neurology
, vol.71
, pp. 85-92
-
-
Ringman, J.M.1
Younkin, S.G.2
Pratico, D.3
Seltzer, W.4
Cole, G.M.5
Geschwind, D.H.6
-
21
-
-
79955623605
-
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease
-
Antonell A, Balasa M, Oliva R, Lladó A, Bosch B, Fabregat N, et al: A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease. Neurosci Lett 2011; 496: 40-42.
-
(2011)
Neurosci Lett
, vol.496
, pp. 40-42
-
-
Antonell, A.1
Balasa, M.2
Oliva, R.3
Lladó, A.4
Bosch, B.5
Fabregat, N.6
-
22
-
-
67650898563
-
CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation
-
de Bot ST, Kremer HPH, Dooijes D, Verbeek MM: CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation. J Alzheimers Dis 2009; 17: 53-57.
-
(2009)
J Alzheimers Dis
, vol.17
, pp. 53-57
-
-
De Bot, S.T.1
Hph, K.2
Dooijes, D.3
Verbeek, M.M.4
-
23
-
-
84878379947
-
Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease
-
Tiedt HO, Lueschow A, Winter P, Müller U: Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease. Neurosci Lett 2013; 544: 115-118.
-
(2013)
Neurosci Lett
, vol.544
, pp. 115-118
-
-
Tiedt, H.O.1
Lueschow, A.2
Winter, P.3
Müller, U.4
-
24
-
-
10744221980
-
Atypical dementia associated with a novel presenilin-2 mutation
-
Binetti G, Signorini S, Squitti R, Alberici A, Benussi L, Cassetta E, et al: Atypical dementia associated with a novel presenilin-2 mutation. Ann Neurol 2003; 54: 832-836.
-
(2003)
Ann Neurol
, vol.54
, pp. 832-836
-
-
Binetti, G.1
Signorini, S.2
Squitti, R.3
Alberici, A.4
Benussi, L.5
Cassetta, E.6
-
25
-
-
58149289594
-
Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - Case report and review of the literature
-
Nikisch G, Hertel A, Kiessling B, Wagner T, Krasz D, Hofmann E, Wiedemann G: Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature. Eur J Med Res 2008; 13: 579-584.
-
(2008)
Eur J Med Res
, vol.13
, pp. 579-584
-
-
Nikisch, G.1
Hertel, A.2
Kiessling, B.3
Wagner, T.4
Krasz, D.5
Hofmann, E.6
Wiedemann, G.7
-
26
-
-
84937512282
-
Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort
-
Cohn-Hokke PE, Wong TH, Rizzu P, Breedveld G, van der Flier WM, Scheltens P, et al: Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort. J Neurol 2014; 261: 2085-2092.
-
(2014)
J Neurol
, vol.261
, pp. 2085-2092
-
-
Cohn-Hokke, P.E.1
Wong, T.H.2
Rizzu, P.3
Breedveld, G.4
Van Der Flier, W.M.5
Scheltens, P.6
-
27
-
-
77949593595
-
A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF
-
Uttner I, Kirchheiner J, Tumani H, Mottaghy FM, Lebedeva E, Ozer E, et al: A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. Eur J Neurol 2010; 17: 631-633.
-
(2010)
Eur J Neurol
, vol.17
, pp. 631-633
-
-
Uttner, I.1
Kirchheiner, J.2
Tumani, H.3
Mottaghy, F.M.4
Lebedeva, E.5
Ozer, E.6
-
28
-
-
84869126018
-
Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the prese-nilin 1 E280A kindred: A case-control study
-
Reiman EM, Quiroz YT, Fleisher AS, Chen K, Velez-Pardo C, Jimenez-Del-Rio M, et al: Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the prese-nilin 1 E280A kindred: a case-control study. Lancet Neurol 2012; 11: 1048-1056.
-
(2012)
Lancet Neurol
, vol.11
, pp. 1048-1056
-
-
Reiman, E.M.1
Quiroz, Y.T.2
Fleisher, A.S.3
Chen, K.4
Velez-Pardo, C.5
Jimenez-Del-Rio, M.6
-
29
-
-
85026136018
-
Familial Alzheimer disease: Decreases in CSF Aβ # inf#42 levels precede cognitive decline
-
42 levels precede cognitive decline. Neurology 2005; 65: 323-325.
-
(2005)
Neurology
, vol.65
, pp. 323-325
-
-
Moonis, M.1
Swearer, J.2
-
30
-
-
0037981415
-
Clinical findings in nondemented mutation carriers predisposed to Alzheimer's disease: A model of mild cognitive impairment
-
Almkvist O, Axelman K, et al: Clinical findings in nondemented mutation carriers predisposed to Alzheimer's disease: a model of mild cognitive impairment. Acta Neurol Scand Suppl 2003; 179: 77-82.
-
(2003)
Acta Neurol Scand Suppl
, vol.179
, pp. 77-82
-
-
Almkvist, O.1
Axelman, K.2
-
31
-
-
76749167709
-
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease
-
Portelius E, Andreasson U, Ringman JM, Buerger K, Daborg J, Buchhave P, et al: Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. Mol Neurodegener 2010; 5: 2.
-
(2010)
Mol Neurodegener
, vol.5
, pp. 2
-
-
Portelius, E.1
Andreasson, U.2
Ringman, J.M.3
Buerger, K.4
Daborg, J.5
Buchhave, P.6
-
32
-
-
84858259539
-
The amyloid-β isoform pattern in cerebrospinal fluid in familial PSEN1 M139T- and L286P-associated Alzheimer's disease
-
Portelius E, Fortea J, Molinuevo JL, Gustavsson MK, Andreasson U, Sanchez-Valle R: The amyloid-β isoform pattern in cerebrospinal fluid in familial PSEN1 M139T- and L286P-associated Alzheimer's disease. Mol Med Rep 2012; 5: 1111-1115.
-
(2012)
Mol Med Rep
, vol.5
, pp. 1111-1115
-
-
Portelius, E.1
Fortea, J.2
Molinuevo, J.L.3
Gustavsson, M.K.4
Andreasson, U.5
Sanchez-Valle, R.6
-
33
-
-
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, et al: Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. Eur J Neurol 2008; 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
-
34
-
-
0042922481
-
Total tau and phos-phorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations
-
Rosso SM, van Herpen E, Pijnenburg YA, Schoonenboom NS, Scheltens P, Heutink P, et al: Total tau and phos-phorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. Arch Neurol 2003;60: 1209-1213.
-
(2003)
Arch Neurol
, vol.60
, pp. 1209-1213
-
-
Rosso, S.M.1
Van Herpen, E.2
Pijnenburg, Y.A.3
Schoonenboom, N.S.4
Scheltens, P.5
Heutink, P.6
-
35
-
-
77956397952
-
Dementia mimicking Alzheimer's disease owing to a tau mutation: CSF and PET findings
-
Tolboom N, Koedam E, et al: Dementia mimicking Alzheimer's disease owing to a tau mutation: CSF and PET findings. Alzheimer Dis Assoc Disord 2010; 24: 303-307.
-
(2010)
Alzheimer Dis Assoc Disord
, vol.24
, pp. 303-307
-
-
Tolboom, N.1
Koedam, E.2
-
36
-
-
35348872039
-
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
-
Brouwers N, Nuytemans K, et al: Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. Arch Neurol 2007; 64: 1436-1446.
-
(2007)
Arch Neurol
, vol.64
, pp. 1436-1446
-
-
Brouwers, N.1
Nuytemans, K.2
-
37
-
-
84455170737
-
Cerebrospinal fluid biomarkers in progranulin mutations carriers
-
Carecchio M, Fenoglio C, Cortini F, Comi C, Benussi L, Ghidoni R, et al: Cerebrospinal fluid biomarkers in progranulin mutations carriers. J Alzheimers Dis 2011; 27: 781-790.
-
(2011)
J Alzheimers Dis
, vol.27
, pp. 781-790
-
-
Carecchio, M.1
Fenoglio, C.2
Cortini, F.3
Comi, C.4
Benussi, L.5
Ghidoni, R.6
-
38
-
-
79955582018
-
Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred
-
Pietroboni A, Fumagalli G, et al: Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. J Alzheimers Dis 2011; 24: 253-259.
-
(2011)
J Alzheimers Dis
, vol.24
, pp. 253-259
-
-
Pietroboni, A.1
Fumagalli, G.2
-
39
-
-
84899713203
-
Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation
-
Suárez-Calvet M, Dols-Icardo O, Lladó A, Sánchez-Valle R, Hernández I, Amer G, et al: Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation. J Neurol Neurosurg Psychiatry 2014; 85: 684-691.
-
(2014)
J Neurol Neurosurg Psychiatry
, vol.85
, pp. 684-691
-
-
Suárez-Calvet, M.1
Dols-Icardo, O.2
Lladó, A.3
Sánchez-Valle, R.4
Hernández, I.5
Amer, G.6
-
40
-
-
84867565345
-
Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebro-spinal fluid biomarkers
-
Wallon D, Rovelet-Lecrux A, Deramecourt V, Pariente J, Auriacombe S, Le Ber I, et al: Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebro-spinal fluid biomarkers. J Alzheimers Dis 2012; 32: 19-22.
-
(2012)
J Alzheimers Dis
, vol.32
, pp. 19-22
-
-
Wallon, D.1
Rovelet-Lecrux, A.2
Deramecourt, V.3
Pariente, J.4
Auriacombe, S.5
Le Ber, I.6
-
41
-
-
84921029430
-
Slowly progressive frontotem-poral lobar degeneration caused by the C9ORF72 repeat expansion: A 20-year follow-up study
-
Suhonen NM, Kaivorinne AL, Moilanen V, Bode M, Takalo R, Hänninen T, et al: Slowly progressive frontotem-poral lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study. Neurocase 2015; 21: 85-89.
-
(2015)
Neurocase
, vol.21
, pp. 85-89
-
-
Suhonen, N.M.1
Kaivorinne, A.L.2
Moilanen, V.3
Bode, M.4
Takalo, R.5
Hänninen, T.6
-
42
-
-
84916894648
-
A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding
-
Saint-Aubert L, Sagot C, Wallon D, Hannequin D, Payoux P, Nemmi F, et al: A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding. J Alzheimers Dis 2014; 42: 413-420.
-
(2014)
J Alzheimers Dis
, vol.42
, pp. 413-420
-
-
Saint-Aubert, L.1
Sagot, C.2
Wallon, D.3
Hannequin, D.4
Payoux, P.5
Nemmi, F.6
-
43
-
-
84901775082
-
Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: A sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits
-
Abbate C, Arosio B, Galimberti D, Nicolini P, Chiara LR, Rossi PD, et al: Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: a sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits. J Alzheimers Dis 2014; 40: 849-855.
-
(2014)
J Alzheimers Dis
, vol.40
, pp. 849-855
-
-
Abbate, C.1
Arosio, B.2
Galimberti, D.3
Nicolini, P.4
Chiara, L.R.5
Rossi, P.D.6
-
44
-
-
84983165136
-
-
Alzforum: Mutation database
-
Alzforum: Mutation database. http://www.alzforum.org/mutations.
-
-
-
-
45
-
-
33846282302
-
The presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanism
-
Shen J, Kelleher RJ 3rd: The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. Proc Natl Acad Sci USA 2007; 104: 403-409.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 403-409
-
-
Shen, J.1
Kelleher Iii., R.J.2
-
47
-
-
33847662852
-
Soluble protein oligomers in neurodegeneration: Lessons from the Alzheimer's amyloid beta-peptide
-
Haass C, Selkoe DJ: Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid beta-peptide. Nat Rev Mol Cell Biol 2007; 8: 101-112.
-
(2007)
Nat Rev Mol Cell Biol
, vol.8
, pp. 101-112
-
-
Haass, C.1
Selkoe, D.J.2
-
48
-
-
70349923038
-
Alzheimer's disease: From pathology to therapeutic approaches
-
Jakob-Roetne R, Jacobsen H: Alzheimer's disease: from pathology to therapeutic approaches. Angew Chem Int Ed Engl 2009; 48: 3030-3059.
-
(2009)
Angew Chem Int Ed Engl
, vol.48
, pp. 3030-3059
-
-
Jakob-Roetne, R.1
Jacobsen, H.2
-
49
-
-
84877148563
-
Pre-analytical factors influencing the stability of cerebrospinal fluid proteins
-
Simonsen AH, Bahl JMC, Danborg PB, Lindstrom V, Larsen SO, Grubb A, et al: Pre-analytical factors influencing the stability of cerebrospinal fluid proteins. J Neurosci Methods 2013; 215: 234-240.
-
(2013)
J Neurosci Methods
, vol.215
, pp. 234-240
-
-
Simonsen, A.H.1
Jmc, B.2
Danborg, P.B.3
Lindstrom, V.4
Larsen, S.O.5
Grubb, A.6
-
50
-
-
27744487547
-
Identification of CSF biomarkers for frontotemporal dementia using SELDI-TOF
-
Rüetschi U, Zetterberg H, Podust VN, Gottfries J, Li S, Hviid Simonsen A, et al: Identification of CSF biomarkers for frontotemporal dementia using SELDI-TOF. Exp Neurol 2005; 196: 273-281.
-
(2005)
Exp Neurol
, vol.196
, pp. 273-281
-
-
Rüetschi, U.1
Zetterberg, H.2
Podust, V.N.3
Gottfries, J.4
Li, S.5
Hviid Simonsen, A.6
-
51
-
-
0037203346
-
Studies of the pathophysiological mechanisms in frontotemporal dementia by proteome analysis of CSF proteins
-
Davidsson P, Sjögren M, Andreasen N, Lindbjer M, Nilsson CL, Westman-Brinkmalm A, et al: Studies of the pathophysiological mechanisms in frontotemporal dementia by proteome analysis of CSF proteins. Mol Brain Res 2002; 109: 128-133.
-
(2002)
Mol Brain Res
, vol.109
, pp. 128-133
-
-
Davidsson, P.1
Sjögren, M.2
Andreasen, N.3
Lindbjer, M.4
Nilsson, C.L.5
Westman-Brinkmalm, A.6
-
52
-
-
36448997798
-
A novel panel of cerebrospinal fluid biomarkers for the differential diagnosis of Alzheimer's disease versus normal aging and frontotemporal dementia
-
Simonsen A, McGuire J, Podust VN, Hagnelius N-O, Nilsson TK, Kapaki E, et al: A novel panel of cerebrospinal fluid biomarkers for the differential diagnosis of Alzheimer's disease versus normal aging and frontotemporal dementia. Dement Geriatr Cogn Disord 2007; 24: 434-440.
-
(2007)
Dement Geriatr Cogn Disord
, vol.24
, pp. 434-440
-
-
Simonsen, A.1
McGuire, J.2
Podust, V.N.3
Hagnelius, N.-O.4
Nilsson, T.K.5
Kapaki, E.6
-
53
-
-
84983140772
-
-
ClinicalTrials.gov: Dominantly Inherited Alzheimer Network trial: an opportunity to prevent dementia. A study of potential disease modifying treatments in individuals at risk for or with a type of early onset Alzheimer's disease caused by a genetic mutation (DIAN-TU) accessed February 19, 2015
-
ClinicalTrials.gov: Dominantly Inherited Alzheimer Network trial: an opportunity to prevent dementia. A study of potential disease modifying treatments in individuals at risk for or with a type of early onset Alzheimer's disease caused by a genetic mutation (DIAN-TU). 2012. https://www.clinicaltrials.gov/ct2/ show/NCT01760005?term=NCT01760005&rank=1 (accessed February 19, 2015).
-
(2012)
-
-
-
54
-
-
84983147938
-
-
ClinicalTrials.gov: Dominantly Inherited Alzheimer Network (DIAN) (accessed February 19, 2015)
-
ClinicalTrials.gov: Dominantly Inherited Alzheimer Network (DIAN). 2009. https://www.clinicaltrials.gov/ ct2/show/NCT00869817?term=NCT00869817&rank=1 (accessed February 19, 2015).
-
(2009)
-
-
-
55
-
-
84887856825
-
Dominantly Inherited Alzheimer Network: Facilitating research and clinical trials
-
Moulder KL, Snider BJ, Mills SL, Buckles VD, Santacruz AM, Bateman RJ, et al: Dominantly Inherited Alzheimer Network: facilitating research and clinical trials. Alzheimers Res Ther 2013; 5: 48.
-
(2013)
Alzheimers Res Ther
, vol.5
, pp. 48
-
-
Moulder, K.L.1
Snider, B.J.2
Mills, S.L.3
Buckles, V.D.4
Santacruz, A.M.5
Bateman, R.J.6
-
56
-
-
84892748542
-
Phase 3 trials of solanezumab for mild-to-moderate Alzheimer's disease
-
Doody RS, Thomas RG, Farlow M, Iwatsubo T, Vellas B, Joffe S, et al: Phase 3 trials of solanezumab for mild-to-moderate Alzheimer's disease. N Engl J Med 2014; 370: 311-321.
-
(2014)
N Engl J Med
, vol.370
, pp. 311-321
-
-
Doody, R.S.1
Thomas, R.G.2
Farlow, M.3
Iwatsubo, T.4
Vellas, B.5
Joffe, S.6
-
58
-
-
84896733978
-
The novel MAPT mutation K298E: Mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons
-
Iovino M, Pfisterer U, Holton JL, Lashley T, Swingler RJ, Calo L, et al: The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons. Acta Neuropathol 2014; 127: 283-295.
-
(2014)
Acta Neuropathol
, vol.127
, pp. 283-295
-
-
Iovino, M.1
Pfisterer, U.2
Holton, J.L.3
Lashley, T.4
Swingler, R.J.5
Calo, L.6
-
59
-
-
84920970069
-
Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques
-
Ishida C, Kobayashi K, Kitamura T, Ujike H, Iwasa K, Yamada M: Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques. Neuropathology 2015; 35: 75-82.
-
(2015)
Neuropathology
, vol.35
, pp. 75-82
-
-
Ishida, C.1
Kobayashi, K.2
Kitamura, T.3
Ujike, H.4
Iwasa, K.5
Yamada, M.6
-
60
-
-
84903820366
-
Tau protein mutation P364S in two sisters: Clinical course and neuropathology with emphasis on new, composite neuronal tau inclusions
-
Popović M, Fabjan A, Mraz J, Magdić J, Glavać D, Zupan A, et al: Tau protein mutation P364S in two sisters: clinical course and neuropathology with emphasis on new, composite neuronal tau inclusions. Acta Neuro-pathol 2014; 128: 155-157.
-
(2014)
Acta Neuro-pathol
, vol.128
, pp. 155-157
-
-
Popović, M.1
Fabjan, A.2
Mraz, J.3
Magdić, J.4
Glavać, D.5
Zupan, A.6
-
61
-
-
84920759172
-
The novel GRN g.1159-1160delTG mutation is associated with behavioral variant frontotemporal dementia
-
Calvi A, Cioffi SMG, Caffarra P, Fenoglio C, Serpente M, Pietroboni AM, et al: The novel GRN g.1159-1160delTG mutation is associated with behavioral variant frontotemporal dementia. J Alzheimers Dis 2015; 44: 277-282.
-
(2015)
J Alzheimers Dis
, vol.44
, pp. 277-282
-
-
Calvi, A.1
Smg, C.2
Caffarra, P.3
Fenoglio, C.4
Serpente, M.5
Pietroboni, A.M.6
-
62
-
-
54449085260
-
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
-
Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G: Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 2008; 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
-
63
-
-
78650178041
-
Microglial upregulation of progranulin as a marker of motor neuron degeneration
-
Philips T, De Muynck L, Thu HN, Weynants B, Vanacker P, Dhondt J, et al: Microglial upregulation of progranulin as a marker of motor neuron degeneration. J Neuropathol Exp Neurol 2010; 69: 1191-1200.
-
(2010)
J Neuropathol Exp Neurol
, vol.69
, pp. 1191-1200
-
-
Philips, T.1
De Muynck, L.2
Thu, H.N.3
Weynants, B.4
Vanacker, P.5
Dhondt, J.6
-
64
-
-
0028982840
-
Decreased α-secretase-cleaved amyloid precursor protein as a diagnostic marker for Alzheimer's disease
-
Lannfelt L, Basun H, Wahlund L, et al: Decreased α-secretase-cleaved amyloid precursor protein as a diagnostic marker for Alzheimer's disease. Nat Med 1995; 1: 829-832.
-
(1995)
Nat Med
, vol.1
, pp. 829-832
-
-
Lannfelt, L.1
Basun, H.2
Wahlund, L.3
|