A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

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Early behavioural changes in familial Alzheimer's disease in the Dominantly Inherited Alzheimer Network.Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.

P2860

Q37132846-31B7DD24-870E-4CD3-A25B-2BE22B008FAD Q42714348-477E5ADE-7885-4945-B036-27EE1FEE0111

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A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Item

http://www.wikidata.org/entity/Q37678589

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

@pt

bilimsel makale

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scientific article published on January 2014

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

A novel PSEN1 mutation (I238M) ...... in an African-American woman.

@en

A novel PSEN1 mutation

@nl

type

Item

label

A novel PSEN1 mutation (I238M) ...... in an African-American woman.

@en

A novel PSEN1 mutation

@nl

prefLabel

A novel PSEN1 mutation (I238M) ...... in an African-American woman.

@en

A novel PSEN1 mutation

@nl

P1476

A novel PSEN1 mutation (I238M) ...... in an African-American woman.

@en

P2093

Ana Isabel Alvarez-Retuerto

http://www.w3.org/2001/XMLSchema#string

Giovanni Coppola

http://www.w3.org/2001/XMLSchema#string

John M Ringman

http://www.w3.org/2001/XMLSchema#string

Silva Hecimovic

http://www.w3.org/2001/XMLSchema#string

Simon Kang Seng Ting

http://www.w3.org/2001/XMLSchema#string

Suma Chakraverty

http://www.w3.org/2001/XMLSchema#string

Verna Porter

http://www.w3.org/2001/XMLSchema#string

Vladimir Kepe

http://www.w3.org/2001/XMLSchema#string

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Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

Clinical and biomarker changes in dominantly inherited Alzheimer's disease.

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.

Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin

Mutations in APP have independent effects on Abeta and CTFgamma generation.

Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

The Thr354Ile substitution in PSEN1:: disease-causing mutation or polymorphism?

Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein.

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271-275

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scholarly article

P356

10.3233/JAD-131844

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

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Alison Goate

Tammie L. Benzinger

Anne M Fagan

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2014-01-01T00:00:00Z

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24413619

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Alzheimer's disease

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3972314

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A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

about

P2860

P2860

A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

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P698

P921

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P356

P1433

P1476

P2093

P2860

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P433

P478

P50

P577

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P921

P932