Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation-Reference-Cited by-同舟云学术

Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation

Published:2016-04-15 Issue:11 Volume:87 Page:1265-1268
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Frasquet M,Chumillas M J,Vílchez J J,Márquez-Infante C,Palau F,Vázquez-Costa J F^ORCID,Lupo V,Espinós C,Sevilla T

Funder

Instituto de Salud Carlos III

Fundación para la Investigación del Hospital Universitari La Fe

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference5 articles.

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3. Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series;Sivera;Neurology,2013

4. Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant;Rose;Hum Mol Genet,2011

5. Distal hereditary motor neuropathy with HSJ1 chaperone mutation, presenting with peripheral motor neuropathy, associated to Parkinsonism, and cerebellar ataxia. Case report [abstract];Teive;Mov Disord,2015

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