Clinical features of the myasthenic syndrome arising from mutations in GMPPB-Reference-Cited by-同舟云学术

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Published:2016-05-04 Issue:8 Volume:87 Page:802-809
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Rodríguez Cruz Pedro M,Belaya Katsiaryna,Basiri Keivan,Sedghi Maryam,Farrugia Maria Elena,Holton Janice L,Liu Wei Wei,Maxwell Susan,Petty Richard,Walls Timothy J,Kennett Robin,Pitt Matthew,Sarkozy Anna,Parton Matt,Lochmüller Hanns,Muntoni Francesco,Palace Jacqueline,Beeson David

Funder

Medical Research Council

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference26 articles.

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3. Dok-7 mutations underlie a neuromuscular junction synaptopathy;Beeson;Science,2006

4. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome;Ohno;Am J Hum Genet,2002

5. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14;Cossins;Brain,2013

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