Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland

Early Onset ◽

Precursor Protein ◽

Presenilin 1 ◽

Presenilin 2

Novel amyloid precursor protein mutation, Val669Leu (“Seoul APP”), in a Korean patient with early-onset Alzheimer's disease

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2019.08.026 ◽

2019 ◽

Vol 84 ◽

pp. 236.e1-236.e7 ◽

Cited By ~ 3

Author(s):

Eva Bagyinszky ◽

Min Ju Kang ◽

Vo Van Giau ◽

KyuHwan Shim ◽

Jung-Min Pyun ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Precursor Protein ◽

Korean Patient ◽

Protein Mutation ◽

Amyloid Precursor Protein Mutation ◽

Unusual phenotypic alteration of amyloid precursor protein ( APP) maturation by a new Val-715 -> Met APP-770 mutation responsible for probable early-onset Alzheimer's disease

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.96.7.4119 ◽

1999 ◽

Vol 96 (7) ◽

pp. 4119-4124 ◽

Cited By ~ 120

Author(s):

K. Ancolio ◽

C. Dumanchin ◽

H. Barelli ◽

J. M. Warter ◽

A. Brice ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Precursor Protein ◽

Phenotypic Alteration ◽

Clinical characteristics in a kindred with early-onset Alzheimer's disease and their linkage to a G->T change at position 2149 of the amyloid precursor protein gene

Neurology ◽

10.1212/wnl.44.1.105 ◽

1994 ◽

Vol 44 (1) ◽

pp. 105-105 ◽

Cited By ~ 15

Author(s):

M. Farlow ◽

J. Murrell ◽

B. Ghetti ◽

F. Unverzagt ◽

S. Zeldenrust ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Clinical Characteristics ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

No Detected Mutations in the Genes for the Amyloid Precursor Protein and Presenilins 1 and 2 in a Swiss Early-Onset Alzheimer’s Disease Family with a Dominant Mode of Inheritance

Dementia and Geriatric Cognitive Disorders ◽

10.1159/000017185 ◽

1999 ◽

Vol 10 (6) ◽

pp. 431-436 ◽

Cited By ~ 1

Author(s):

A. Savioz ◽

G. Leuba ◽

C. Forsell ◽

L. Lilius ◽

C. Rossier ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Dominant Mode ◽

Precursor Protein ◽

Disease Family ◽

Mode Of Inheritance

Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

Nature ◽

10.1038/353844a0 ◽

1991 ◽

Vol 353 (6347) ◽

pp. 844-846 ◽

Cited By ~ 796

Author(s):

Marie-Christine Chartier-Harlin ◽

Fiona Crawford ◽

Henry Houlden ◽

Andrew Warren ◽

David Hughes ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Β Amyloid

Japanese siblings with missense mutation (717Val right arrow Ile) in amyloid precursor protein of early-onset Alzheimer's disease

Neurology ◽

10.1212/wnl.46.6.1721 ◽

1996 ◽

Vol 46 (6) ◽

pp. 1721-1723 ◽

Cited By ~ 12

Author(s):

Y. Matsumura ◽

E. Kitamura ◽

K. Miyoshi ◽

Y. Yamamoto ◽

J. Furuyama ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Missense Mutation ◽

Early Onset ◽

Precursor Protein ◽

P3-213: Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: Novel mutations in the amyloid precursor protein and presenilines

Alzheimer s & Dementia ◽

10.1016/j.jalz.2008.05.1780 ◽

2008 ◽

Vol 4 ◽

pp. T583-T583 ◽

Cited By ~ 3

Author(s):

Jordi Clarimón ◽

Rita Guerreiro ◽

Alberto Lleó ◽

Cristina Guardia ◽

Rafael Blesa ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Genetic Screening ◽

Early Onset ◽

Large Cohort ◽

Precursor Protein ◽

Novel Mutations ◽

Clinical Course of Patients with Familial Early-Onset Alzheimer’s Disease Potentially Lacking Senile Plaques Bearing the E693Δ Mutation in Amyloid Precursor Protein

Dementia and Geriatric Cognitive Disorders ◽

10.1159/000330017 ◽

2011 ◽

Vol 32 (1) ◽

pp. 45-54 ◽

Cited By ~ 21

Author(s):

Hiroyuki Shimada ◽

Suzuka Ataka ◽

Takami Tomiyama ◽

Hajime Takechi ◽

Hiroshi Mori ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Clinical Course ◽

Senile Plaques ◽

Precursor Protein ◽

Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence

Neuroscience Letters ◽

10.1016/0304-3940(91)90042-r ◽

1991 ◽

Vol 133 (1) ◽

pp. 1-2 ◽

Cited By ~ 32

Author(s):

Fiona Crawford ◽

John Hardy ◽

Mike Mullan ◽

Alison Goate ◽

David Hughes ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Β Amyloid

[P2-256]: EARLY ONSET ALZHEIMER's DISEASE PATIENT WITH AMYLOID PRECURSOR PROTEIN (V669L) MUTATION

Alzheimer s & Dementia ◽

10.1016/j.jalz.2017.06.908 ◽

2017 ◽

Vol 13 (7S_Part_14) ◽

pp. P711-P711

Author(s):

Min Ju Kang ◽

Moon-Ku Han

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Disease Patient ◽

Precursor Protein ◽