Your browser doesn't support javascript.
loading
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto, Osorio; Moreno, Cristiane de Araújo Martins; Malfatti, Edoardo; Donkervoort, Sandra; Böhm, Johann; Guimarães, Júlio Brandão; Foley, A Reghan; Mohassel, Payam; Dastgir, Jahannaz; Bharucha-Goebel, Diana Xerxes; Monges, Soledad; Lubieniecki, Fabiana; Collins, James; Medne, Livija; Santi, Mariarita; Yum, Sabrina; Banwell, Brenda; Salort-Campana, Emmanuelle; Rendu, John; Fauré, Julien; Yis, Uluc; Eymard, Bruno; Cheraud, Chrystel; Schneider, Raphaël; Thompson, Julie; Lornage, Xaviere; Mesrob, Lilia; Lechner, Doris; Boland, Anne; Deleuze, Jean-François; Reed, Umbertina Conti; Oliveira, Acary Souza Bulle; Biancalana, Valérie; Romero, Norma B; Bönnemann, Carsten G; Laporte, Jocelyn; Zanoteli, Edmar.
Afiliação
  • Abath Neto O; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Neuromuscular and Neurogenetic Disorders of Childhood Secti
  • Moreno CAM; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Malfatti E; Center for Research in Myology, Sorbonne University, Pitié-Salpêtrière Hospital Group, Paris, France.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, MD, USA.
  • Böhm J; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.
  • Guimarães JB; Department of Radiology, DASA Laboratory, São Paulo, Brazil.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, MD, USA.
  • Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, MD, USA.
  • Dastgir J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, MD, USA.
  • Bharucha-Goebel DX; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, MD, USA.
  • Monges S; Servicio de Neurología y Servicio de Patologia, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
  • Lubieniecki F; Servicio de Neurología y Servicio de Patologia, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
  • Collins J; Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Medne L; Individualized Medical Genetics Center, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Santi M; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Yum S; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Banwell B; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Salort-Campana E; APHM, Dept. Neurology, Neuromuscular & ALS Reference Center, La Timone Univ. Hospital, France Aix Marseille Université, INSERM, GMGF, Marseille, France.
  • Rendu J; Dept. Biochemistry, Molecular Biochemistry & Genetics, Toxicology & Pharmacology, Grenoble Alpes University, GIN Inst. Neurosciences, Grenoble, France.
  • Fauré J; Dept. Biochemistry, Molecular Biochemistry & Genetics, Toxicology & Pharmacology, Grenoble Alpes University, GIN Inst. Neurosciences, Grenoble, France.
  • Yis U; Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Eymard B; Paris-Est Neuromuscular Center, APHP - GH Pitié-Salpêtrière, Paris, France.
  • Cheraud C; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.
  • Schneider R; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Department of Computer Science, ICube, UMR 7357, CNRS, Strasbourg, France.
  • Thompson J; Department of Computer Science, ICube, UMR 7357, CNRS, Strasbourg, France.
  • Lornage X; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.
  • Mesrob L; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.
  • Lechner D; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.
  • Boland A; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.
  • Deleuze JF; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.
  • Reed UC; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Oliveira ASB; Setor de Doenças Neuromusculares, Departamento de Neurologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
  • Biancalana V; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France.
  • Romero NB; Center for Research in Myology, Sorbonne University, Pitié-Salpêtrière Hospital Group, Paris, France.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, MD, USA.
  • Laporte J; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.
  • Zanoteli E; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address: edmar.zanoteli@usp.br.
Neuromuscul Disord ; 27(11): 975-985, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28818389
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article