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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Böhm, Johann; Chevessier, Frédéric; Koch, Catherine; Peche, G Arielle; Mora, Marina; Morandi, Lucia; Pasanisi, Barbara; Moroni, Isabella; Tasca, Giorgio; Fattori, Fabiana; Ricci, Enzo; Pénisson-Besnier, Isabelle; Nadaj-Pakleza, Aleksandra; Fardeau, Michel; Joshi, Pushpa Raj; Deschauer, Marcus; Romero, Norma Beatriz; Eymard, Bruno; Laporte, Jocelyn.
Afiliação
  • Böhm J; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, I
  • Chevessier F; Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany.
  • Koch C; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, I
  • Peche GA; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, I
  • Mora M; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy Muscle Cell Biology Lab, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Morandi L; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Pasanisi B; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Moroni I; Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Tasca G; Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy.
  • Fattori F; Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy.
  • Ricci E; Institute of Neurology, Catholic University School of Medicine, Rome, Italy.
  • Pénisson-Besnier I; Neurology Department, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers, France.
  • Nadaj-Pakleza A; Neurology Department, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, Angers, France.
  • Fardeau M; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France.
  • Joshi PR; Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany.
  • Deschauer M; Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany.
  • Romero NB; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France.
  • Eymard B; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Laporte J; Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, I
J Med Genet ; 51(12): 824-33, 2014 Dec.
Article em En | MEDLINE | ID: mdl-25326555
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Músculo Esquelético / Miopatias Congênitas Estruturais / Proteínas de Membrana / Mutação / Proteínas de Neoplasias Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Músculo Esquelético / Miopatias Congênitas Estruturais / Proteínas de Membrana / Mutação / Proteínas de Neoplasias Idioma: En Ano de publicação: 2014 Tipo de documento: Article