(Q81020806)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15549395%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A (English)

1 reference

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5 January 2020

author name string

Kazuki Kijima

1

1 reference

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5 January 2020

Chikahiko Numakura

2

1 reference

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5 January 2020

Hiroko Izumino

3

1 reference

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5 January 2020

Kazuo Umetsu

4

1 reference

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5 January 2020

Atsuo Nezu

5

1 reference

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5 January 2020

Toshihide Shiiki

6

1 reference

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5 January 2020

Masafumi Ogawa

7

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5 January 2020

Yoshito Ishizaki

8

1 reference

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5 January 2020

Takeshi Kitamura

9

1 reference

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5 January 2020

Yasunobu Shozawa

10

1 reference

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5 January 2020

Kiyoshi Hayasaka

11

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5 January 2020

publication date

11 November 2004

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5 January 2020

1 reference

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5 January 2020

volume

116

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5 January 2020

issue

1-2

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5 January 2020

page(s)

23-27

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1199-2

5 January 2020

exact match

0 references

cites work

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

12 December 2020

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

1 reference

12 December 2020

Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1

1 reference

12 December 2020

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

1 reference

12 December 2020

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

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

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

1 reference

12 December 2020

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

1 reference

12 December 2020

Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease

1 reference

12 December 2020

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.

1 reference

12 December 2020

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

1 reference

12 December 2020

Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity

1 reference

12 December 2020

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

12 December 2020

Control of mitochondrial morphology by a human mitofusin

1 reference

12 December 2020