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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi, Matteo; Rendu, John; Brocard, Julie; Lacene, Emmanuelle; Fauré, Julien; Brochier, Guy; Beuvin, Maud; Labasse, Clemence; Madelaine, Angeline; Malfatti, Edoardo; Bevilacqua, Jorge Alfredo; Lubieniecki, Fabiana; Monges, Soledad; Taratuto, Ana Lia; Laporte, Jocelyn; Marty, Isabelle; Antonini, Giovanni; Romero, Norma Beatriz.
Afiliação
  • Garibaldi M; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France. matteo.garibaldi@uniroma1.it.
  • Rendu J; Unit of Neuromuscular Diseases, Neuromuscular Disease Centre, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189, Rome, Italy. matteo.garibaldi@uniroma1.it.
  • Brocard J; Centre Hospitalier Universitaire de Grenoble Alpes, Biochimie Génétique et Moléculaire, Grenoble, France.
  • Lacene E; Grenoble Institut des Neurosciences- Inserm U1216 - UGA, Grenoble, France.
  • Fauré J; Grenoble Institut des Neurosciences- Inserm U1216 - UGA, Grenoble, France.
  • Brochier G; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Beuvin M; Centre Hospitalier Universitaire de Grenoble Alpes, Biochimie Génétique et Moléculaire, Grenoble, France.
  • Labasse C; Grenoble Institut des Neurosciences- Inserm U1216 - UGA, Grenoble, France.
  • Madelaine A; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Malfatti E; Sorbonne Universités UPMC Univ Paris 06- Inserm UMRS974, Center of Research in Myology, Institut de Myologie, Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Bevilacqua JA; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Lubieniecki F; Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Monges S; Service Neurologie Médicale, Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France, CHU Raymond-Poincaré Paris Ouest, Garches, France.
  • Taratuto AL; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR des sciences de la santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, Versailles, France.
  • Laporte J; Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital, Santiago, Chile.
  • Marty I; Department of Anatomy and Legal Medicine, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Antonini G; Servicio de Neurología y Servicio de Patologia, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
  • Romero NB; Servicio de Neurología y Servicio de Patologia, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Acta Neuropathol Commun ; 7(1): 3, 2019 01 05.
Article em En | MEDLINE | ID: mdl-30611313
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canal de Liberação de Cálcio do Receptor de Rianodina / Doenças Musculares Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canal de Liberação de Cálcio do Receptor de Rianodina / Doenças Musculares Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article