(Q53369886)

13 May 2018

title

Novel mutations and repeated findings of mutations in familial Alzheimer disease. (English)

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13 May 2018

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Ulrich Finckh

1

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13 May 2018

Christian Kuschel

2

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13 May 2018

Maria Anagnostouli

3

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13 May 2018

Efstratios Patsouris

4

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13 May 2018

George V Pantes

5

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13 May 2018

Stylianos Gatzonis

6

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13 May 2018

Elisabeth Kapaki

7

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13 May 2018

Panagiota Davaki

8

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13 May 2018

Katrin Lamszus

9

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13 May 2018

Dimitrios Stavrou

10

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13 May 2018

Andreas Gal

11

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13 May 2018

publication date

18 March 2005

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13 May 2018

published in

Neurogenetics

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13 May 2018

volume

6

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13 May 2018

issue

2

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13 May 2018

page(s)

85-89

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13 May 2018

https://scigraph.springernature.com/pub.10.1007/s10048-005-0211-x

exact match

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cites work

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

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0211-X

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0211-X

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

21 January 2018

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12 December 2020

Presenilin mutations line up along transmembrane alpha-helices.

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12 December 2020

Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.

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12 December 2020

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

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12 December 2020

Prevalence of dementia and major subtypes in Europe: A collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research Group

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High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

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12 December 2020

Total inactivation of gamma-secretase activity in presenilin-deficient embryonic stem cells.

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12 December 2020

Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefe

1 reference

12 December 2020

A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years

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12 December 2020

Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).

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12 December 2020

Highly polymorphic repeat marker within the ?-amyloid precursor protein gene

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

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12 December 2020

Three dinucleotide markers on chromosome 21

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12 December 2020

Wide range in age of onset for chromosome 1--related familial Alzheimer's disease

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12 December 2020

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

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12 December 2020

Presenilins are required for gamma-secretase cleavage of beta-APP and transmembrane cleavage of Notch-1

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12 December 2020

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

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12 December 2020

Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene

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12 December 2020

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

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12 December 2020

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

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12 December 2020

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

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12 December 2020

Polymorphic tetranucleotide repeat site within intron 7 of the beta-amyloid precursor protein gene and its lack of association with Alzheimer's disease

1 reference

12 December 2020

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

1 reference

12 December 2020

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

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12 December 2020

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

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12 December 2020

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

1 reference

12 December 2020

10.1007/S10048-005-0211-X

Identifiers

DOI

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13 May 2018

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13 May 2018