Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients (Q50430326)

13 March 2018

title

Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients (English)

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13 March 2018

Brown-Vialetto-Van Laere syndrome

main subject

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3

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13 March 2018

author name string

Mitra Ansari Dezfouli

series ordinal

1

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13 March 2018

Samira Yadegari

series ordinal

2

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13 March 2018

Elahe Elahi

series ordinal

4

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13 March 2018

publication date

21 June 2012

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13 March 2018

Journal of Human Genetics

published in

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13 March 2018

volume

57

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13 March 2018

issue

9

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13 March 2018

page(s)

613-617

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13 March 2018

Brown-Vialetto-Van Laere syndrome

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Brown-Vialetto-Van Laere syndrome: case report and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Exome sequencing in Brown-Vialetto-van Laere syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Identification and functional characterization of rat riboflavin transporter 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

7 January 2021

Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

7 January 2021

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

7 January 2021

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

7 January 2021

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

7 January 2021

CuZn-Superoxide Dismutase in D90A Heterozygotes from Recessive and Dominant ALS Pedigrees

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.70

7 January 2021

Identifiers

DOI

10.1038/JHG.2012.70

1 reference

13 March 2018

release_citm4gonwjbghpsvn2ytyk62sy

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/citm4gonwjbghpsvn2ytyk62sy

24 November 2022

mapped directly with Wikidata item

1 reference

13 March 2018