| 1 |
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. ( 29988083
)
|
Hartl D...AESG
|
2018 |
| 2 |
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1. ( 29466804
)
|
Tiedt HO...Lueschow A
|
2018 |
| 3 |
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration. ( 29070659
)
|
Weston P.S.J....Fox N.C.
|
2017 |
| 4 |
Polygenic risk scores in familial Alzheimer disease. ( 28213371
)
|
|
2017 |
| 5 |
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene. ( 28595629
)
|
|
2017 |
| 6 |
Expression of familial Alzheimer disease presenilin 1 gene attenuates vesicle traffic and reduces peptide secretion in cultured astrocytes devoid of pathologic tissue environment. ( 26462451
)
|
Stenovec M....Zorec R.
|
2016 |
| 7 |
Autophagic and lysosomal defects in human tauopathies: analysis of post-mortem brain from patients with familial Alzheimer disease, corticobasal degeneration and progressive supranuclear palsy. ( 26936765
)
|
|
2016 |
| 8 |
The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease. ( 27533593
)
|
Tosto G...National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) Family Study Group
|
2016 |
| 9 |
Presymptomatic cortical thinning in familial Alzheimer disease: A longitudinal MRI study. ( 27733562
)
|
Weston PS...Fox NC
|
2016 |
| 10 |
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics. ( 26214276
)
|
Lee J.H....Mayeux R.
|
2015 |
| 11 |
Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate I^-Secretase Activities. ( 26559975
)
|
|
2015 |
| 12 |
Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study. ( 27092264
)
|
|
2015 |
| 13 |
Cell signaling abnormalities may drive neurodegeneration in familial Alzheimer disease. ( 23436150
)
|
Robakis N.K.
|
2014 |
| 14 |
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. ( 24582897
)
|
Luedecke D....Boelmans K.
|
2014 |
| 15 |
Relative ratio and level of amyloid-I^ 42 surrogate in cerebrospinal fluid of familial Alzheimer disease patients with presenilin 1 mutations. ( 24192669
)
|
|
2014 |
| 16 |
Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene. ( 22882713
)
|
Niwa A....Tomimoto H.
|
2013 |
| 17 |
The pattern of atrophy in familial Alzheimer disease: volumetric MRI results from the DIAN study. ( 24049139
)
|
Cash DM...Dominantly Inherited Alzheimer Network (DIAN)
|
2013 |
| 18 |
The mechanism of I^-Secretase dysfunction in familial Alzheimer disease. ( 22505025
)
|
ChA!vez-GutiAcrrez L....De Strooper B.
|
2012 |
| 19 |
Evidence for premature lipid raft aging in APP/PS1 double-transgenic mice, a model of familial Alzheimer disease. ( 22975585
)
|
Fabelo N....DA-az M.
|
2012 |
| 20 |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of I^-secretase. ( 22461631
)
|
|
2012 |
| 21 |
Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations. ( 22232349
)
|
Ringman JM...Wan HI
|
2012 |
| 22 |
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers. ( 22829467
)
|
Lalli MA...Lopera F
|
2012 |
| 23 |
Genetic counseling for early-onset familial Alzheimer disease in large Aboriginal kindred from a remote community in British Columbia: unique challenges and possible solutions. ( 20927575
)
|
Butler R....Sadovnick A.D.
|
2011 |
| 24 |
[Familial Alzheimer disease]. ( 22755192
)
|
|
2011 |
| 25 |
Linkage analysis of autopsy-confirmed familial Alzheimer disease supports an Alzheimer disease locus in 8q24. ( 21273770
)
|
Sill?n A...Graff C
|
2011 |
| 26 |
Event-related potential markers of brain changes in preclinical familial Alzheimer disease. ( 21775732
)
|
Quiroz YT...Budson AE
|
2011 |
| 27 |
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. ( 20460383
)
|
Heilig E.A....Kelleher R.J.
|
2010 |
| 28 |
A DNA methylation study of the amyloid precursor protein gene in several brain regions from patients with familial Alzheimer disease. ( 20919856
)
|
Brohede J....Graff C.
|
2010 |
| 29 |
Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif. ( 20452985
)
|
|
2010 |
| 30 |
Effects of the English (H6R) and Tottori (D7N) familial Alzheimer disease mutations on amyloid beta-protein assembly and toxicity. ( 20452980
)
|
Ono K...Teplow DB
|
2010 |
| 31 |
Familial Alzheimer disease in Canada. ( 20481260
)
|
Dupr? N...Laforce R
|
2010 |
| 32 |
Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations. ( 19915487
)
|
Albrecht S....LeBlanc A.C.
|
2009 |
| 33 |
Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome. ( 20008652
)
|
Lippa C.F....Trojanowski J.Q.
|
2009 |
| 34 |
Cortical event-related potentials in preclinical familial Alzheimer disease. ( 19917987
)
|
Golob EJ...Starr A
|
2009 |
| 35 |
Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation. ( 18768471
)
|
Fluhrer R....Haass C.
|
2008 |
| 36 |
Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta. ( 18430735
)
|
Shimojo M....Takashima A.
|
2008 |
| 37 |
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. ( 18580586
)
|
|
2008 |
| 38 |
Biochemical markers in persons with preclinical familial Alzheimer disease. ( 18509095
)
|
|
2008 |
| 39 |
Mutation negative "early-onset familial Alzheimer disease": consider screening for tau gene mutations. ( 18525295
)
|
|
2008 |
| 40 |
Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation. ( 17962197
)
|
|
2008 |
| 41 |
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1. ( 17431506
)
|
Nelson O....Bezprozvanny I.
|
2007 |
| 42 |
Variability of age at onset in siblings with familial Alzheimer disease. ( 18071037
)
|
GA^mez-Tortosa E....JimAcnez-Escrig A.
|
2007 |
| 43 |
The heritability of abstract reasoning in Caribbean Latinos with familial Alzheimer disease. ( 17938569
)
|
|
2007 |
| 44 |
The Tottori (D7N) and English (H6R) familial Alzheimer disease mutations accelerate Abeta fibril formation without increasing protofibril formation. ( 17170111
)
|
Hori Y...Iwatsubo T
|
2007 |
| 45 |
Familial Alzheimer disease in Latinos: interaction between APOE, stroke, and estrogen replacement. ( 16401842
)
|
Rippon G.A....Mayeux R.
|
2006 |
| 46 |
MRS shows abnormalities before symptoms in familial Alzheimer disease. ( 16534109
)
|
Godbolt A.K....Rossor M.N.
|
2006 |
| 47 |
Apolipoprotein E epsilon4 and age at onset of sporadic and familial Alzheimer disease in Caribbean Hispanics. ( 17101827
)
|
|
2006 |
| 48 |
LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. ( 16957580
)
|
|
2006 |
| 49 |
Formation of tau inclusions in knock-in mice with familial Alzheimer disease (FAD) mutation of presenilin 1 (PS1). ( 16377636
)
|
Tanemura K...Takashima A
|
2006 |
| 50 |
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. ( 16533963
)
|
Leverenz JB...Tsuang D
|
2006 |
