(Q83509190)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21365284%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease (English)

1 reference

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24 January 2020

2

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24 January 2020

Anna Potulska-Chromik

5

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24 January 2020

Andrzej Kochański

8

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Irena Hausmanowa-Petrusewicz

24 January 2020

6

object named as

Irena Hausmanowa-Petrusewicz

1 reference

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24 January 2020

1

Dagmara Kabzińska

1 reference

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24 January 2020

7

Ueli Suter

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24 January 2020

3

Hanna Drac

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24 January 2020

author name string

Nina Huber

4

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24 January 2020

publication date

2 March 2011

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24 January 2020

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24 January 2020

volume

12

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24 January 2020

issue

2

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24 January 2020

page(s)

145-153

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https://scigraph.springernature.com/pub.10.1007/s10048-011-0276-7

24 January 2020

exact match

0 references

cites work

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

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

The phenotypic manifestations of chromosome 17p11.2 duplication.

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

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

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

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

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

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

Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor

1 reference

12 December 2020

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

1 reference

12 December 2020

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

12 December 2020

GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.

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

Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

1 reference

12 December 2020

CMT4A: identification of a Hispanic GDAP1 founder mutation

1 reference

12 December 2020

Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication

1 reference

12 December 2020

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

1 reference

12 December 2020

10.1007/S10048-011-0276-7

Identifiers

DOI

1 reference

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24 January 2020

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