Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation (Q82965766)

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18 January 2020

title

Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20169446%20AND%20SRC:MED&resulttype=core&format=json

Charcot-Marie-Tooth disease type 2D

18 January 2020

main subject

1 reference

Ayumi Hamaguchi

1

1 reference

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18 January 2020

Chiho Ishida

2

1 reference

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18 January 2020

Kazuo Iwasa

3

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18 January 2020

Akiko Abe

4

1 reference

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18 January 2020

Masahito Yamada

5

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18 January 2020

publication date

19 February 2010

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18 January 2020

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18 January 2020

volume

257

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18 January 2020

issue

7

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18 January 2020

page(s)

1202-1204

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https://scigraph.springernature.com/pub.10.1007/s00415-010-5491-x

18 January 2020

exact match

0 references

cites work

Glycyl-tRNA synthetase

1 reference

12 December 2020

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

1 reference

12 December 2020

A statistical approach to fiber diameter distribution in human sural nerve

1 reference

12 December 2020

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

1 reference

12 December 2020

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

1 reference

12 December 2020

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

1 reference

12 December 2020

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

1 reference

12 December 2020

Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase

1 reference

12 December 2020