Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

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Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?Cerebral Manifestations of Mitochondrial Disorders.

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Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

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2016年學術文章

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2016年學術文章

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Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

@en

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

@nl

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Item

label

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

@en

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

@nl

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Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

@en

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

@nl

P1476

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

@en

P2093

Ian M MacDonald

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

Matthew D Benson

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

Patrick Ferreira

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P2860

Role of Magmas in protein transport and human mitochondria biogenesis

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

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

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.

DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling.

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.

Aprataxin localizes to mitochondria and preserves mitochondrial function

A population-based study of autosomal-recessive disease-causing mutations in a founder population

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

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10.3109/13816810.2015.1137327

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Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

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P2860

P2860

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

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P1433

P1476

P2093

P2860

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P356

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P356

P1433

P1476

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P2860

P304

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P433

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P577

P698