NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype-Reference-Cited by-同舟云学术

NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype

Published:2015-12-08 Issue:2 Volume:263 Page:361-369
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Berciano José,Peeters Kristien,García Antonio,López-Alburquerque Tomás,Gallardo Elena,Hernández-Fabián Arantxa,Pelayo-Negro Ana L.,De Vriendt Els,Infante Jon,Jordanova Albena

Funder

Research Institute of University Hospital “Marqués de Valdecilla”

Fund for Scientific Research-Flanders (FWO) and the Belgian Association against Neuromuscular Disorders (ABMM)

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/article/10.1007/s00415-015-7985-z/fulltext.html

Reference48 articles.

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3. Davis CJ, Bradley WG, Madrid R (1978) The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 26:311–349

4. Madrid R, Bradley WG, Davis CJ (1977) The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci 32:91–122

5. Bouché P, Gherardi R, Cathala HP, Lhermitte F, Castaigne P (1983) Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J Neurol Sci 61:389–399

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