(Q38058837)

27 August 2017

title

Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE. (English)

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27 August 2017

J Xiao

1

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27 August 2017

M A Nance

series ordinal

2

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27 August 2017

M S LeDoux

series ordinal

3

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27 August 2017

publication date

30 November 2012

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27 August 2017

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27 August 2017

volume

84

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27 August 2017

issue

3

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27 August 2017

page(s)

276-280

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Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

27 August 2017

cites work

1 reference

The epsilon-sarcoglycan gene in myoclonic syndromes

21 January 2018

1 reference

Myoclonus-dystonia: significance of large SGCE deletions

21 January 2018

1 reference

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene

21 January 2018

1 reference

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype

21 January 2018

1 reference

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

21 January 2018

1 reference

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

21 January 2018

1 reference

Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.

21 January 2018

1 reference

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

21 January 2018

1 reference

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

21 January 2018

1 reference

Large SGCE deletion contributes to Taiwanese myoclonus–dystonia syndrome

21 January 2018

1 reference

Responsiveness to levodopa in epsilon-sarcoglycan deletions

21 January 2018

1 reference

"Jerky" dystonia in children: spectrum of phenotypes and genetic testing

21 January 2018

1 reference

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

21 January 2018

1 reference

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12059

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27 August 2017

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