(Q48450474)

11 February 2018

title

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis. (English)

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11 February 2018

main subject

spinal muscular atrophy

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Gudrun Schottmann

1

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11 February 2018

Christiane Wagner

2

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11 February 2018

Franziska Seifert

3

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11 February 2018

Werner Stenzel

4

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11 February 2018

Markus Schuelke

5

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11 February 2018

language of work or name

English

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publication date

29 October 2016

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11 February 2018

published in

Brain

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11 February 2018

volume

139

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11 February 2018

issue

Pt 12

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11 February 2018

page(s)

e70

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11 February 2018

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

Expression of Leu-19 (CD56, N-CAM) and nitric oxide synthase (NOS) I in denervated and reinnervated human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

The MORC family: new epigenetic regulators of transcription and DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

MORC2 signaling integrates phosphorylation-dependent, ATPase-coupled chromatin remodeling during the DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

Involvement of histone deacetylation in MORC2-mediated down-regulation of carbonic anhydrase IX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWW252

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWW252

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11 February 2018

1 reference

11 February 2018