Monogenic determinants of familial Alzheimer&#39;s disease: presenilin-1 mutations

Familial Alzheimer’s Disease due to Presenilin 1 Mutation at the Age of 33: a Case Report

SN Comprehensive Clinical Medicine ◽

10.1007/s42399-021-00982-5 ◽

2021 ◽

Author(s):

Rita Raimundo ◽

Rafael Jesus ◽

Andreia Veiga

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Case Report ◽

Presenilin 1 ◽

Presenilin 1 Mutation ◽

IC-P-048: Using high density event-related potentials to study recognition memory in presymptomatic individuals with familial Alzheimer's disease due to E280A presenilin-1 mutation

Alzheimer s & Dementia ◽

10.1016/j.jalz.2009.05.068 ◽

2009 ◽

Vol 5 (4S_Part_1) ◽

pp. P23-P24

Author(s):

Yakeel T. Quiroz ◽

Chantal E. Stern ◽

Francisco Lopera ◽

Joshua D. McKeever ◽

Brandon A. Ally ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Recognition Memory ◽

Event Related Potentials ◽

High Density ◽

Presenilin 1 ◽

Related Potentials ◽

Presenilin 1 Mutation ◽

Familial Alzheimer's Disease Presenilin 1 Mutations Cause Alterations in the Conformation of Presenilin and Interactions with Amyloid Precursor Protein

Journal of Neuroscience ◽

10.1523/jneurosci.0364-05.2005 ◽

2005 ◽

Vol 25 (11) ◽

pp. 3009-3017 ◽

Cited By ~ 102

Author(s):

O. Berezovska

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Precursor Protein ◽

Presenilin 1 ◽

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation

The Lancet ◽

10.1016/s0140-6736(96)90715-1 ◽

1996 ◽

Vol 347 (9014) ◽

pp. 1560 ◽

Cited By ~ 48

Author(s):

M.N. Rossor ◽

N.C. Fox ◽

J. Beck ◽

T.C. Campbell ◽

J. Collinge

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Gene Mutation ◽

Presenilin 1 ◽

Incomplete Penetrance ◽

Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations

Journal of Alzheimer s Disease ◽

10.3233/jad-2010-1292 ◽

2010 ◽

Vol 19 (3) ◽

pp. 873-884 ◽

Cited By ~ 30

Author(s):

Estrella Gómez-Tortosa ◽

Sagrario Barquero ◽

Manuel Barón ◽

Eulogio Gil-Neciga ◽

Fernando Castellanos ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Genetic Correlations ◽

Presenilin 1 ◽

Clinical Genetic ◽

A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(02)00466-5 ◽

2003 ◽

Vol 209 (1-2) ◽

pp. 75-77 ◽

Cited By ~ 10

Author(s):

Hirokazu Furuya ◽

Minoru Yasuda ◽

Ken-jiro Terasawa ◽

Kazuhiro Tanaka ◽

Hiroyuki Murai ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Novel Mutation ◽

Presenilin 1 ◽

Expression of Familial Alzheimer’s Disease-Linked Human Presenilin 1 Variants Impair Enrichment-Induced Adult Hippocampal Neurogenesis

Neurodegenerative Diseases ◽

10.1159/000283482 ◽

2010 ◽

Vol 7 (1-3) ◽

pp. 46-49 ◽

Cited By ~ 6

Author(s):

Karthikeyan Veeraraghavalu ◽

Se Hoon Choi ◽

Sangram S. Sisodia

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Hippocampal Neurogenesis ◽

Adult Hippocampal Neurogenesis ◽

Presenilin 1 ◽

Age-Related Vascular Pathology in Transgenic Mice Expressing Presenilin 1-Associated Familial Alzheimer's Disease Mutations

American Journal Of Pathology ◽

10.2353/ajpath.2010.090482 ◽

2010 ◽

Vol 176 (1) ◽

pp. 353-368 ◽

Cited By ~ 49

Author(s):

Miguel A. Gama Sosa ◽

Rita De Gasperi ◽

Anne B. Rocher ◽

Athena Ching-Jung Wang ◽

William G.M. Janssen ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Transgenic Mice ◽

Vascular Pathology ◽

Presenilin 1 ◽

Age Related ◽

Disease Mutations ◽

Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease

Neuroscience Letters ◽

10.1016/j.neulet.2013.03.056 ◽

2013 ◽

Vol 544 ◽

pp. 115-118 ◽

Cited By ~ 6

Author(s):

H.O. Tiedt ◽

A. Lueschow ◽

P. Winter ◽

U. Müller

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Presenilin 1 ◽

Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2006.07.003 ◽

2007 ◽

Vol 28 (11) ◽

pp. 1682-1688 ◽

Cited By ~ 16

Author(s):

Diego Albani ◽

Ignazio Roiter ◽

Vladimiro Artuso ◽

Sara Batelli ◽

Francesca Prato ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Presenilin 1 ◽

Italian Population ◽

Presenilin 1 Mutation ◽