(Q35963729)

11 August 2017

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland (English)

1 reference

11 August 2017

1 reference

Sinead M Murphy

4

0 references

Rita Horvath

object named as

Rita Horvath

12

0 references

Hanns Lochmüller

10

object named as

Hanns Lochmüller

1 reference

11 August 2017

11

Patrick Chinnery

1 reference

11 August 2017

1

Boglarka Bansagi

1 reference

11 August 2017

2

Thalia Antoniadi

1 reference

11 August 2017

Sarah Burton-Jones

3

1 reference

11 August 2017

John McHugh

5

1 reference

11 August 2017

Michael Alexander

6

1 reference

11 August 2017

Richard Wells

7

1 reference

11 August 2017

Joanna Davies

8

1 reference

11 August 2017

David Hilton-Jones

9

1 reference

11 August 2017

2 June 2015

1 reference

11 August 2017

1 reference

11 August 2017

262

1 reference

11 August 2017

8

1 reference

11 August 2017

1899-1908

1 reference

Creative Commons Attribution 4.0 International

11 August 2017

start time

2 June 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00415-015-7778-4

0 references

cites work

A novel AARS mutation in a family with dominant myeloneuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

GARS axonopathy: not every neuron's cup of tRNA

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4539360

10.1007/S00415-015-7778-4

24 September 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

26032230

1 reference