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NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman, Karlijn; Küsters, Benno; De Winter, Josine M; Gillet, Cynthia; Van Kleef, Esmee S B; Eshuis, Lilian; Brochier, Guy; Madelaine, Angeline; Labasse, Clémence; Boulogne, Claire; Van Engelen, Baziel G M; Ottenheijm, Coen A C; Romero, Norma B; Voermans, Nicol C; Malfatti, Edoardo.
Afiliação
  • Bouman K; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Küsters B; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Paris-Saclay, France.
  • De Winter JM; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gillet C; Department of Physiology, Amsterdam University Medical Center, VUmc, The Netherlands.
  • Van Kleef ESB; Cytometry/Electronic Microscopy/Light Microscopy Facility, Imagerie-Gif, Institute for Integrative Biology of the Cell I2BC), CEA, CNRS, Univ. Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
  • Eshuis L; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Brochier G; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Madelaine A; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Labasse C; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Boulogne C; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Van Engelen BGM; Cytometry/Electronic Microscopy/Light Microscopy Facility, Imagerie-Gif, Institute for Integrative Biology of the Cell I2BC), CEA, CNRS, Univ. Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
  • Ottenheijm CAC; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Romero NB; Department of Physiology, Amsterdam University Medical Center, VUmc, The Netherlands.
  • Voermans NC; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Malfatti E; Université Sorbonne, INSERM UMRS974, Center for Research in Myology, Centre de référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Paris, France.
J Neuropathol Exp Neurol ; 80(4): 366-376, 2021 03 22.
Article em En | MEDLINE | ID: mdl-33693846
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Fibras Musculares Esqueléticas / Proteínas Musculares Limite: Adult / Aged / Female / Humans / Male / Middle aged País como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Fibras Musculares Esqueléticas / Proteínas Musculares Limite: Adult / Aged / Female / Humans / Male / Middle aged País como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article