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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage, Xavière; Romero, Norma B; Grosgogeat, Claire A; Malfatti, Edoardo; Donkervoort, Sandra; Marchetti, Michael M; Neuhaus, Sarah B; Foley, A Reghan; Labasse, Clémence; Schneider, Raphaël; Carlier, Robert Y; Chao, Katherine R; Medne, Livija; Deleuze, Jean-François; Orlikowski, David; Bönnemann, Carsten G; Gupta, Vandana A; Fardeau, Michel; Böhm, Johann; Laporte, Jocelyn.
Afiliación
  • Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 1, rue Laurent Fries, BP 10142, 67404, Illkirch, France.
  • Romero NB; INSERM U1258, 67404, Illkirch, France.
  • Grosgogeat CA; CNRS, UMR7104, 67404, Illkirch, France.
  • Malfatti E; Université de Strasbourg, 67404, Illkirch, France.
  • Donkervoort S; Université Sorbonne, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013, Paris, France.
  • Marchetti MM; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.
  • Neuhaus SB; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, 75013, Paris, France.
  • Foley AR; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Labasse C; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.
  • Schneider R; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, 75013, Paris, France.
  • Carlier RY; Neurology Department, Raymond-Poincaré teaching hospital, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, AP-HP, 92380, Garches, France.
  • Chao KR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Medne L; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Deleuze JF; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Orlikowski D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Bönnemann CG; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.
  • Gupta VA; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, 75013, Paris, France.
  • Fardeau M; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 1, rue Laurent Fries, BP 10142, 67404, Illkirch, France.
  • Böhm J; INSERM U1258, 67404, Illkirch, France.
  • Laporte J; CNRS, UMR7104, 67404, Illkirch, France.
Acta Neuropathol ; 137(3): 501-519, 2019 03.
Article en En | MEDLINE | ID: mdl-30701273
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Actinina / Músculo Esquelético / Miotonía Congénita Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Acta Neuropathol Año: 2019 Tipo del documento: Article País de afiliación: Francia
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Actinina / Músculo Esquelético / Miotonía Congénita Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Acta Neuropathol Año: 2019 Tipo del documento: Article País de afiliación: Francia