|
Alzheimer disease, familial, type 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
|
29316780 |
2018 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
|
30200536 |
2018 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
|
11710891 |
2001 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
|
11710891 |
2001 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
|
8910898 |
1996 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A new splice variant of glial fibrillary acidic protein, GFAP epsilon, interacts with the presenilin proteins.
|
12058025 |
2002 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations.
|
15004326 |
2004 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
|
9833068 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
|
10447269 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
|
10447269 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
|
11796781 |
2002 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.
|
31153663 |
2020 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.
|
9507958 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
|
24582897 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.
|
12484344 |
2002 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
|
15364419 |
2004 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.
|
15122701 |
2004 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
|
11684347 |
2001 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.
|
15534188 |
2004 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
|
9189043 |
1997 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
|
21501661 |
2011 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.
|
10025789 |
1999 |