(Q81198202)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16155736%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16155736%20AND%20SRC:MED&resulttype=core&format=json

Distal hereditary motor neuropathies

6 January 2020

main subject

1 reference

Kazuki Kijima

1

1 reference

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6 January 2020

Chikahiko Numakura

2

1 reference

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6 January 2020

Tomohide Goto

3

1 reference

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6 January 2020

Takao Takahashi

4

1 reference

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6 January 2020

Tesshu Otagiri

5

1 reference

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6 January 2020

Kazuo Umetsu

6

1 reference

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6 January 2020

Kiyoshi Hayasaka

7

1 reference

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6 January 2020

publication date

10 September 2005

1 reference

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Journal of Human Genetics

6 January 2020

published in

1 reference

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6 January 2020

volume

50

1 reference

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6 January 2020

issue

9

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6 January 2020

page(s)

473-476

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10038-005-0280-6

6 January 2020

exact match

0 references

cites work

Invited review: Interplay between molecular chaperones and signaling pathways in survival of heat shock

1 reference

12 December 2020

Hsp27 upregulation and phosphorylation is required for injured sensory and motor neuron survival.

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

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

1 reference

12 December 2020

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

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

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

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

Upregulation of HSP27 in a Transgenic Model of ALS

1 reference

12 December 2020

Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin

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

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

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

1 reference

12 December 2020

2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 19

1 reference

12 December 2020

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1

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 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

10.1007/S10038-005-0280-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16155736%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference