Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (Q24532026)

4 July 2017

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

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Charcot-Marie-Tooth disease type 2D

4 July 2017

main subject

spinal muscular atrophy

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Distal hereditary motor neuropathies

inferred from title

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14

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4 July 2017

7

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Eric D. Green

17

object named as

Eric D Green

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4 July 2017

1

Anthony Antonellis

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4 July 2017

Kumaraswamy Sivakumar

11

object named as

Kumaraswamy Sivakumar

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4 July 2017

6

Shih-Queen Lee-Lin

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4 July 2017

4

Imke Puls

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4 July 2017

Rachel E Ellsworth

2

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4 July 2017

Nyamkhishig Sambuughin

3

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4 July 2017

Annette Abel

5

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4 July 2017

Ivo Kremensky

8

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4 July 2017

Kyproula Christodoulou

9

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4 July 2017

Lefkos T Middleton

10

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4 July 2017

Victor Ionasescu

12

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4 July 2017

Benoit Funalot

13

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4 July 2017

Lev G Goldfarb

15

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4 July 2017

Kenneth H Fischbeck

16

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4 July 2017

language of work or name

English

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publication date

10 April 2003

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

72

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4 July 2017

issue

5

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4 July 2017

page(s)

1293-1299

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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

4 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

The carpal tunnel syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

Charcot-Marie-Tooth disease and related inherited neuropathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

27 September 2017

Glycyl-tRNA synthetase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

An empirical energy function for threading protein sequence through the folding motif

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180282

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

29 November 2018

1 reference

12 December 2020

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

1 reference

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

1 reference

12 December 2020

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

12 December 2020

Identifiers

DOI

10.1086/375039

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OpenCitations bibliographic resource ID

4 July 2017

4734188

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4734188

1 reference