(Q53357906)

13 May 2018

title

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

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13 May 2018

author name string

Hirokazu Furuya

1

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13 May 2018

Minoru Yasuda

2

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13 May 2018

Ken-jiro Terasawa

3

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13 May 2018

Kazuhiro Tanaka

4

1 reference

13 May 2018

Hiroyuki Murai

5

1 reference

13 May 2018

Jun-ichi Kira

6

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13 May 2018

Yasumasa Ohyagi

7

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13 May 2018

publication date

1 May 2003

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13 May 2018

Journal of the Neurological Sciences

published in

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13 May 2018

volume

209

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13 May 2018

page(s)

75-77

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13 May 2018

issue

1-2

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13 May 2018

Genes, models and Alzheimer's disease

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

Apolipoprotein E genotyping by one-stage PCR

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900466-5

10.1016/S0022-510X(02)00466-5

7 January 2021

Identifiers

DOI

1 reference

13 May 2018

PubMed ID

12686406

1 reference

13 May 2018