Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) (Q57898858)

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18 January 2020

title

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) (English)

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18 January 2020

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mitochondrial complex I deficiency

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8

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18 January 2020

Vincent Procaccio

11

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18 January 2020

Pascal Reynier

14

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18 January 2020

author name string

Julien Cassereau

1

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18 January 2020

Arnaud Chevrollier

2

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18 January 2020

Naïg Gueguen

3

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18 January 2020

Marie-Claire Malinge

4

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18 January 2020

Franck Letournel

5

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18 January 2020

Guillaume Nicolas

6

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18 January 2020

Laurence Richard

7

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18 January 2020

Christophe Verny

9

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18 January 2020

Frédéric Dubas

10

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18 January 2020

Patrizia Amati-Bonneau

12

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18 January 2020

Dominique Bonneau

13

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publication date

17 December 2008

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18 January 2020

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18 January 2020

volume

10

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18 January 2020

issue

2

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18 January 2020

page(s)

145-150

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https://scigraph.springernature.com/pub.10.1007/s10048-008-0166-9

18 January 2020

exact match

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cites work

Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase

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12 December 2020

Hereditary optic neuropathies share a common mitochondrial coupling defect.

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12 December 2020

Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs.

1 reference

12 December 2020

Regulation of mitochondrial matrix volume

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12 December 2020

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

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

1 reference

12 December 2020

Molecular cell biology of Charcot-Marie-Tooth disease.

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12 December 2020

Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins.

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12 December 2020

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

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12 December 2020

Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.

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12 December 2020

Multiple sequence alignment with the Clustal series of programs

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

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12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

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12 December 2020

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12 December 2020

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

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12 December 2020

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

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12 December 2020

10.1007/S10048-008-0166-9

Identifiers

DOI

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18 January 2020

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