(Q80579446)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18231710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease (English)

1 reference

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1 January 2020

author name string

Ki Wha Chung

1

1 reference

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1 January 2020

Seung Min Kim

2

1 reference

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1 January 2020

Il Nam Sunwoo

3

1 reference

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1 January 2020

Sun Young Cho

4

1 reference

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1 January 2020

Su Jin Hwang

5

1 reference

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1 January 2020

Joonki Kim

6

1 reference

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1 January 2020

Sung Hee Kang

7

1 reference

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1 January 2020

Kee-Duk Park

8

1 reference

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1 January 2020

Kyoung-Gyu Choi

9

1 reference

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1 January 2020

Il Saing Choi

10

1 reference

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1 January 2020

Byung-Ok Choi

11

1 reference

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1 January 2020

publication date

31 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18231710%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

1 January 2020

published in

1 reference

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1 January 2020

volume

53

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1 January 2020

issue

4

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1 January 2020

page(s)

360-364

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10038-008-0249-3

1 January 2020

exact match

0 references

cites work

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

1 reference

12 December 2020

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

1 reference

12 December 2020

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

1 reference

12 December 2020

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

1 reference

12 December 2020

GDAP1 mutations in Czech families with early-onset CMT

1 reference

12 December 2020

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

1 reference

12 December 2020

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

1 reference

12 December 2020

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

1 reference

12 December 2020

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

1 reference

12 December 2020

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

1 reference

12 December 2020

10.1007/S10038-008-0249-3

Identifiers

DOI

1 reference

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1 January 2020

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