Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients-Reference-Cited by-同舟云学术

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients

Published:2012-08 Issue:8 Volume:22 Page:699-711
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Irobi Joy,Holmgren Anne,Winter Vicky De,Asselbergh Bob,Gettemans Jan,Adriaensen Dirk,Groote Chantal Ceuterick-de,Coster Rudy Van,Jonghe Peter De,Timmerman Vincent

Funder

Methusalem and Hercules

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference60 articles.

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2. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy;Evgrafov;Nat Genet,2004

3. The distal hereditary motor neuropathies;Rossor;J Neurol Neurosurg Psychiatry,2012

4. Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy;Kijima;J Hum Genet,2005

5. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2;Houlden;Neurology,2008

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