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Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Dabaj, Ivana; Carlier, Robert Y; Gómez-Andrés, David; Neto, Osório Abath; Bertini, Enrico; D'amico, Adele; Fattori, Fabiana; PéRéon, Yann; Castiglioni, Claudia; Rodillo, Eliana; Catteruccia, Michela; Guimarães, Júlio Brandão; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Mesrob, Lilia; Lechner, Doris; Boland, Anne; Deleuze, Jean-François; Malfatti, Edoardo; Bonnemann, Carsten; Laporte, Jocelyn; Romero, Norma; Felter, Adrien; Quijano-Roy, Susana; Moreno, Cristiane Araújo Martins; Zanoteli, Edmar.
Afiliación
  • Dabaj I; APHP, Service de Pediatrie, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches, Centre de Reference de Maladies Neuromusculaires Centre de référence des maladies neuromusculaires Nord/Est/Ile de, France.
  • Carlier RY; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.
  • Gómez-Andrés D; Child Neurology Unit, Hospital Universitari Vall d'Hebron, ERN-RND / ERN-NMD. Vall d'Hebron Institut de Recerca, Barcelona, Spain, Barcelona, Spain.
  • Neto OA; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.
  • D'amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.
  • Fattori F; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.
  • PéRéon Y; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.
  • Castiglioni C; Centre de reference de maladies neuromusculaires Nantes-Angers, Hôtel-Dieu, CHU Nantes, France.
  • Rodillo E; Department of Pediatric, Neurology Unit, Clínica Las Condes, Santiago, Chile.
  • Catteruccia M; Department of Pediatric, Neurology Unit, Clínica Las Condes, Santiago, Chile.
  • Guimarães JB; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.
  • Oliveira ASB; Department of Radiology, DASA Laboratory, São Paulo, Brazil.
  • Reed UC; Departamento de Neurologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
  • Mesrob L; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • 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.
  • Malfatti E; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.
  • Bonnemann C; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.
  • Laporte J; Laboratoire de Pathologie musculaire, Institut de Myologie, Paris, France.
  • Romero N; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Felter A; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.
  • Quijano-Roy S; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.
  • Moreno CAM; Laboratoire de Pathologie musculaire, Institut de Myologie, Paris, France.
  • Zanoteli E; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.
Muscle Nerve ; 58(2): 224-234, 2018 Aug.
Article en En | MEDLINE | ID: mdl-29624713
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cadenas Pesadas de Miosina / Miosinas Cardíacas / Enfermedades Musculares Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Muscle Nerve Año: 2018 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cadenas Pesadas de Miosina / Miosinas Cardíacas / Enfermedades Musculares Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Muscle Nerve Año: 2018 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos