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ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Villar-Quiles, Rocío N; Catervi, Fabio; Cabet, Eva; Juntas-Morales, Raul; Genetti, Casie A; Gidaro, Teresa; Koparir, Asuman; Yüksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce-Hoffman, Emma; Lornage, Xavière; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma B; Beggs, Alan H; Servais, Laurent; Cossée, Mireille; Olivé, Montse; Böhm, Johann; Duband-Goulet, Isabelle; Ferreiro, Ana.
Afiliação
  • Villar-Quiles RN; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.
  • Catervi F; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, APHP, Institute of Myology, Paris, France.
  • Cabet E; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.
  • Juntas-Morales R; Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.
  • Genetti CA; Neuromuscular Unit, University Hospital Center Montpellier/EA7402 University of Montpellier, University Institute of Clinical Research, Montpellier, France.
  • Gidaro T; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Koparir A; I-Motion, Institute of Myology, APHP, Paris, France.
  • Yüksel A; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.
  • Coppens S; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.
  • Deconinck N; Department of Pediatric Neurology, Reference Neuromuscular Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.
  • Pierce-Hoffman E; Department of Pediatric Neurology, Reference Neuromuscular Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.
  • Lornage X; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA.
  • Durigneux J; Department of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104, University of Strasbourg, Illkirch, France.
  • Laporte J; Department of Neuropediatrics, University Hospital Center Angers, Neuromuscular Diseases Reference Center Antlantique Occitanie Caraïbe, Angers, France.
  • Rendu J; Department of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104, University of Strasbourg, Illkirch, France.
  • Romero NB; Laboratory of Biochemistry and Molecular Genetics, University Hospital Center Grenoble, Grenoble, France.
  • Beggs AH; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, APHP, Institute of Myology, Paris, France.
  • Servais L; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Cossée M; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Olivé M; I-Motion, Institute of Myology, APHP, Paris, France.
  • Böhm J; Division of Child Neurology, Neuromuscular Diseases Reference Center, Department of Pediatrics, Liège University Hospital and University of Liège, Liège, Belgium.
  • Duband-Goulet I; Molecular Genetics Laboratory, University Hospital Center Montpellier/National Institute of Health and Medical Research U827, University Institute of Clinical Research, Montpellier, France.
  • Ferreiro A; Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Institute of Biomedical Research of Bellvitge-University Hospital of Bellvitge, Barcelona, Spain.
Ann Neurol ; 87(2): 217-232, 2020 02.
Article em En | MEDLINE | ID: mdl-31794073

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Ciclo Celular / Sistema y/ de Transporte de Aminoácidos / Doenças Musculares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Ciclo Celular / Sistema y/ de Transporte de Aminoácidos / Doenças Musculares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
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