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Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.
Bonanno, Carmen; Rodolico, Carmelo; Töpf, Ana; Foti, Francesca Maria; Liu, Wei-Wei; Beeson, David; Toscano, Antonio; Lochmüller, Hanns.
Afiliação
  • Bonanno C; Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy.
  • Rodolico C; Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy. Electronic address: crodolico@unime.it.
  • Töpf A; John Walton, Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research, Newcastle University and Newcastle Hospitals, Newcastle upon Tyne, UK.
  • Foti FM; Neonatology and Neonatal Intensive Care Unit, "Bianchi-Melacrino-Morelli" Hospital, Reggio Calabria, Italy.
  • Liu WW; Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
  • Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
  • Toscano A; Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy.
  • Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; Chil
Neuromuscul Disord ; 30(4): 336-339, 2020 04.
Article em En | MEDLINE | ID: mdl-32360402
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores Colinérgicos / Síndromes Miastênicas Congênitas Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores Colinérgicos / Síndromes Miastênicas Congênitas Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália