(Q50280360)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26497905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease (English)

1 reference

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28 February 2020

12

1 reference

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28 February 2020

Carmen Espinós

13

1 reference

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28 February 2020

Vincenzo Lupo

2

1 reference

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28 February 2020

Dolores Martínez-Rubio

3

1 reference

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28 February 2020

Samuel Ignacio Pascual

8

1 reference

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28 February 2020

Juan J. Vílchez

11

1 reference

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28 February 2020

10

Joaquín Dopazo

1 reference

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28 February 2020

author name string

Teresa Sevilla

1

1 reference

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28 February 2020

Paula Sancho

4

1 reference

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28 February 2020

Rafael Sivera

5

1 reference

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28 February 2020

María J Chumillas

6

1 reference

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28 February 2020

Mar García-Romero

7

1 reference

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28 February 2020

Nuria Muelas

9

1 reference

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28 February 2020

language of work or name

English

0 references

publication date

24 October 2015

1 reference

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28 February 2020

1 reference

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28 February 2020

volume

139

1 reference

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28 February 2020

page(s)

62-72

1 reference

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28 February 2020

issue

Pt 1

1 reference

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

28 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Recent advances in Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Charcot-Marie-Tooth disease and pathways to molecular based therapies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

MutL homologs in restriction-modification systems and the origin of eukaryotic MORC ATPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

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%2FAWV311

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

A genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Cytosolic functions of MORC2 in lipogenesis and adipogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

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%2FAWV311

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

PAK1-mediated MORC2 phosphorylation promotes gastric tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Identification and expression analysis of a novel CW-type zinc finger protein MORC2 in cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV311

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWV311

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26497905%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

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