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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
Natera-de Benito, D; Nascimento, A; Abicht, A; Ortez, C; Jou, C; Müller, J S; Evangelista, T; Töpf, A; Thompson, R; Jimenez-Mallebrera, C; Colomer, J; Lochmüller, H.
Afiliação
  • Natera-de Benito D; Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain. daninatera@hotmail.com.
  • Nascimento A; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Abicht A; Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336, Munich, Germany.
  • Ortez C; Medical Genetics Center, Munich, Germany.
  • Jou C; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Müller JS; Pathology Department, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Evangelista T; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Töpf A; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Thompson R; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Jimenez-Mallebrera C; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
  • Colomer J; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Lochmüller H; Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
J Neurol ; 263(3): 517-23, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26754003
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inibidores da Colinesterase / Miopatias da Nemalina / Proteínas Musculares Tipo de estudo: Observational_studies Limite: Female / Humans / Infant Idioma: En Revista: J Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inibidores da Colinesterase / Miopatias da Nemalina / Proteínas Musculares Tipo de estudo: Observational_studies Limite: Female / Humans / Infant Idioma: En Revista: J Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha