Mutations inHSPB8causing a new phenotype of distal myopathy and motor neuropathy-Reference-Cited by-同舟云学术

Mutations inHSPB8causing a new phenotype of distal myopathy and motor neuropathy

Published:2015-12-30 Issue:4 Volume:86 Page:391-398
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Ghaoui Roula,Palmio Johanna,Brewer Janice,Lek Monkol,Needham Merrilee,Evilä Anni,Hackman Peter,Jonson Per-Harald,Penttilä Sini,Vihola Anna,Huovinen Sanna,Lindfors Mikaela,Davis Ryan L.,Waddell Leigh,Kaur Simran,Yiannikas Con,North Kathryn,Clarke Nigel,MacArthur Daniel G.,Sue Carolyn M.,Udd Bjarne

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference18 articles.

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

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

3. Tenrecs

4. HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells

5. Chaperone-Assisted Selective Autophagy Is Essential for Muscle Maintenance

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