Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation. - Wikidata - awgldk - TriplyDB

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

http://www.wikidata.org/entity/Q37670995

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Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

http://www.wikidata.org/entity/Q37670995

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on January 2017

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

@en

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

@nl

type

label

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

@en

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

@nl

prefLabel

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

@en

Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

@nl

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Iranian journal of child neurology

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Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.

@en

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Masood Houshmand

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Mohammad Ghofrani

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Parvaneh Karimzadeh

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Shaghayegh Sadat Esmail Nejad

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Simin Khayatzadeh Kakhki

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P2860

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

Atypical presentation of ataxia-oculomotor apraxia type 1.

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78-81

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1

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11

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2017-01-01T00:00:00Z

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28277561

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