(Q37228141)

19 August 2017

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2 (English)

1 reference

19 August 2017

0 references

9

Anthony Antonellis

1 reference

19 August 2017

11

Stephan Züchner

1 reference

19 August 2017

10

Mary M Reilly

1 reference

Inherited Neuropathy Consortium

19 August 2017

12

object named as

Inherited Neuropathy Consortium

1 reference

19 August 2017

Michael Gonzalez

1

1 reference

19 August 2017

Heather McLaughlin

2

1 reference

19 August 2017

Henry Houlden

3

1 reference

19 August 2017

Min Guo

4

1 reference

19 August 2017

Liu Yo-Tsen

5

1 reference

19 August 2017

Marios Hadjivassilious

6

1 reference

19 August 2017

Fiorella Speziani

7

1 reference

19 August 2017

Xiang-Lei Yang

8

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 June 2013

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

19 August 2017

1 reference

19 August 2017

84

1 reference

19 August 2017

11

1 reference

19 August 2017

1247-1249

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3796032

Charcot-Marie-Tooth disease

6 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23729695

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP-2013-305049

1 reference

release_s2zogur3kbhezcrg6g2253e2hy

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s2zogur3kbhezcrg6g2253e2hy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 August 2017

PubMed publication ID

23729695

1 reference