A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2-Reference-Cited by-同舟云学术

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2

Published:2015-12 Issue:4 Volume:20 Page:419-421
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Scarlato Marina¹,Viganò Fiammetta²,Carrera Paola³,Previtali Stefano Carlo¹,Bolino Alessandra²

Affiliation:

1. Department of Neurology; INSPE and Division of Neuroscience; Milan Italy

2. Human Inherited Neuropathies Unit; INSPE and Division of Neuroscience; Milan Italy

3. Unit of Genomics for Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, and Laboratory of Clinical Molecular Biology; IRCCS San Raffaele Scientific Institute; Milan Italy

Funder

Telethon-Italy

Association Française contre les Myopathies

ERA-Net

Italian Telethon-UILDM

Italian Ministry of Health

AFM-Telethon

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12139/fullpdf

Reference6 articles.

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2. Utilization of fluorescent chimeras for investigation of heterooligomeric complexes formed by human small heat shock proteins;Datskevich;Biochimie,2012

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

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

5. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy;Solla;J Neurol Neurosurg Psychiatry,2010

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