Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations-Reference-Cited by-同舟云学术

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

Published:2016-02 Issue:2 Volume:26 Page:153-159
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Natera-de Benito D.,Bestué M.,Vilchez J.J.,Evangelista T.,Töpf A.,García-Ribes A.,Trujillo-Tiebas M.J.,García-Hoyos M.,Ortez C.,Camacho A.,Jiménez E.,Dusl M.,Abicht A.,Lochmüller H.,Colomer J.,Nascimento A.

Funder

SENEP

Medical Research Council UK

European Union Seventh Framework Programme

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference22 articles.

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2. Congenital myasthenic syndromes in 2012;Engel;Curr Neurol Neurosci,2012

3. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene after- gene sequencing in diagnostic practice: a study of 680 patients;Abicht;Hum Mutat,2012

4. Congenital myasthenic syndromes and the neuromuscular junction;Rodríguez Cruz;Curr Opin Neurol,2014

5. Structure and superorganization of acetylcholine receptor–rapsyn complexes;Zuber;Proc Natl Acad Sci U S A,2013

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3. Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature;Clinical Dysmorphology;2023-06-19

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