Familial Alzheimer's disease A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine → glycine)

Brain ◽

10.1093/brain/116.2.309 ◽

1993 ◽

Vol 116 (2) ◽

pp. 309-324 ◽

Author(s):

A. M. Kennedy ◽

S. Newman ◽

A. McCaddon ◽

J. Ball ◽

P. Roques ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

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Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Nature ◽

10.1038/349704a0 ◽

1991 ◽

Vol 349 (6311) ◽

pp. 704-706 ◽

Cited By ~ 2882

Author(s):

Alison Goate ◽

Marie-Christine Chartier-Harlin ◽

Mike Mullan ◽

Jeremy Brown ◽

Fiona Crawford ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Missense Mutation ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

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P3-221: Familial Alzheimer's disease associated with the V717L amyloid precursor protein gene mutation: Neuropathological characterization

Alzheimer s & Dementia ◽

10.1016/j.jalz.2008.05.1788 ◽

2008 ◽

Vol 4 ◽

pp. T585-T585 ◽

Author(s):

Bernardino Ghetti ◽

Ann M. Hake ◽

Jill R. Murrell ◽

Francine Epperson ◽

Martin R. Farlow ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Gene Mutation ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

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Amyloid precursor protein gene mutation at codon 670/671 in familial Alzheimer's disease in Sweden

Biochemical Society Transactions ◽

10.1042/bst0220176 ◽

1994 ◽

Vol 22 (1) ◽

pp. 176-179 ◽

Author(s):

Lars Lannfelt ◽

Janet Johnston ◽

Nenad Bogdanovich ◽

Richard Cowburn

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Gene Mutation ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

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Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease

Neurology ◽

10.1212/wnl.43.11.2275 ◽

1993 ◽

Vol 43 (11) ◽

pp. 2275-2275 ◽

Author(s):

E. I. Rogaev ◽

W. J. Lukiw ◽

G. Vaula ◽

J. L. Haines ◽

E. A. Rogaeva ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Chromosome 14 ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

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A Second Pedigree with Amyloid-less Familial Alzheimer's Disease Harboring an Identical Mutation in the Amyloid Precursor Protein Gene (E693delta)

Internal Medicine ◽

10.2169/internalmedicine.54.3021 ◽

2015 ◽

Vol 54 (2) ◽

pp. 205-208 ◽

Author(s):

Yumiko Kutoku ◽

Yutaka Ohsawa ◽

Ryozo Kuwano ◽

Takeshi Ikeuchi ◽

Haruhisa Inoue ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

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βA4 protein deposition in familial Alzheimer's disease with the mutation in codon 717 of the βA4 amyloid precursor protein gene and sporadic Alzheimer's disease

Neuroscience Letters ◽

10.1016/0304-3940(93)90755-a ◽

1993 ◽

Vol 149 (2) ◽

pp. 137-140 ◽

Author(s):

Nigel J Cairns ◽

Andrew Chadwick ◽

Peter L Lantos ◽

Raymond Levy ◽

Martin N Rossor

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Sporadic Alzheimer’S Disease ◽

Protein Deposition ◽

Familial Alzheimer's Disease

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Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds

Human Genetics ◽

10.1007/bf00201676 ◽

1994 ◽

Vol 93 (4) ◽

Author(s):

Hiroto Fujigasaki ◽

Satoshi Naruse ◽

Kiyotoshi Kaneko ◽

Hideto Hirasawa ◽

Shoji Tsuji ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Protein Gene ◽

Mutational Analysis ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

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Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.2003.010611 ◽

2004 ◽

Vol 75 (7) ◽

pp. 1039-1042 ◽

Author(s):

Y Wakutani

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Missense Mutation ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

Download Full-text

Mis-sense mutation Val→Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease

10.1016/0140-6736(91)91612-x ◽

1991 ◽

Vol 337 (8747) ◽

pp. 978-979 ◽

Author(s):

Satoshi Naruse ◽

Shuichi Igarashi ◽

Kenju Aoki ◽

Kiyotoshi Kaneko ◽

Kuniko Iihara ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Amyloid Precursor Protein ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease

Download Full-text

Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor protein gene

Neuroscience Letters ◽

10.1016/0304-3940(92)90409-z ◽

1992 ◽

Vol 137 (2) ◽

pp. 225-228 ◽

Author(s):

D.M.A. Mann ◽

D. Jones ◽

J.S. Snowden ◽

D. Neary ◽

J. Hardy

Keyword(s):

Alzheimer’S Disease ◽

Amyloid Precursor Protein ◽

Missense Mutation ◽

Protein Gene ◽

Precursor Protein ◽

Amyloid Precursor Protein Gene ◽

Pathological Changes ◽

Familial Alzheimer’S Disease ◽

Familial Alzheimer's Disease ◽

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