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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen, David; Töpf, Ana; Preethish-Kumar, Veeramani; Lorenzoni, Paulo José; Vroling, Bas; Scola, Rosana Herminia; Dias-Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, Sergi; Gut, Marta; Gut, Ivo; Nalini, Atchayaram; Lochmüller, Hanns.
Afiliação
  • Owen D; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Töpf A; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Preethish-Kumar V; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
  • Lorenzoni PJ; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil.
  • Vroling B; Bio-Prodict, Nijmegen, The Netherlands.
  • Scola RH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil.
  • Dias-Tosta E; Unidade de Neurologia Clínica, Hospital de Base do Distrito Federal, Brasília, Brazil.
  • Geraldo A; Serviço de Neurologia, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Polavarapu K; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
  • Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
  • Cox D; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Evangelista T; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Dawson J; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Thompson R; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Senderek J; Friedrich-Baur-Institut, Ludwig-Maximilians-University Munich, Munich, Germany.
  • Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
  • Beltran S; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
  • Gut I; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Nalini A; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
  • Lochmüller H; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
Am J Med Genet A ; 176(7): 1594-1601, 2018 07.
Article em En | MEDLINE | ID: mdl-29704306
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores Colinérgicos / Receptores Proteína Tirosina Quinases / Síndromes Miastênicas Congênitas / Distrofia Muscular do Cíngulo dos Membros / Genes Recessivos / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores Colinérgicos / Receptores Proteína Tirosina Quinases / Síndromes Miastênicas Congênitas / Distrofia Muscular do Cíngulo dos Membros / Genes Recessivos / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos