Literature DB >> 27748205

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Osorio Abath Neto1, Carlos Otto Heise1, Cristiane de Araújo Martins Moreno1, Eduardo de Paula Estephan1, Lilia Mesrob2, Doris Lechner2, Anne Boland2, Jean-François Deleuze2, Acary Souza Bulle Oliveira3, Umbertina Conti Reed1, Valérie Biancalana4, Jocelyn Laporte5, Edmar Zanoteli6.   

Abstract

Entities:  

Keywords:  CHRNA1; Congenital myasthenic syndrome; Neuromuscular junction defect; Postsynaptic defect

Mesh：

Substances：

Year:  2016        PMID： 27748205     DOI： 10.1017/cjn.2016.322

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


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  2 in total

1.  A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Authors:  Eduardo de Paula Estephan; Cláudia Ferreira da Rosa Sobreira; André Clériston José Dos Santos; Pedro José Tomaselli; Wilson Marques; Roberta Paiva Magalhães Ortega; Marcela Câmara Machado Costa; André Macedo Serafim da Silva; Rodrigo Holanda Mendonça; Vitor Marques Caldas; Antonio Alberto Zambon; Osório Abath Neto; Paulo Eurípedes Marchiori; Carlos Otto Heise; Umbertina Conti Reed; Yoshiteru Azuma; Ana Töpf; Hanns Lochmüller; Edmar Zanoteli
Journal:  J Neurol       Date:  2018-01-30       Impact factor: 4.849

2.  Congenital myasthenic syndromes.

Authors:  Josef Finsterer
Journal:  Orphanet J Rare Dis       Date:  2019-02-26       Impact factor: 4.123
  2 in total

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