(Q35985563)

11 August 2017

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

1 reference

Distal hereditary motor neuropathies

11 August 2017

1 reference

Z Zhao

1

1 reference

11 August 2017

A Hashiguchi

2

1 reference

11 August 2017

J Hu

3

1 reference

11 August 2017

Y Sakiyama

4

1 reference

11 August 2017

Y Okamoto

5

1 reference

11 August 2017

S Tokunaga

6

1 reference

11 August 2017

L Zhu

7

1 reference

11 August 2017

H Shen

8

1 reference

11 August 2017

H Takashima

9

1 reference

11 August 2017

language of work or name

English

0 references

publication date

9 May 2012

1 reference

11 August 2017

1 reference

11 August 2017

78

1 reference

11 August 2017

21

1 reference

11 August 2017

1644-1649

1 reference

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359507

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral 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=3359507

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=3359507

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359507

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth 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=3359507

Hot-spot residue in small heat-shock protein 22 causes distal 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=3359507

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359507

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359507

High-throughput variation detection and genotyping using microarrays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359507

Alanyl-tRNA synthetase crystal structure and design for acceptor-stem recognition

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359507

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22573628

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22573628

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3182574F8F

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22573628

1 reference