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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Hedberg-Oldfors, Carola; Meyer, Robert; Nolte, Kay; Abdul Rahim, Yassir; Lindberg, Christopher; Karason, Kristjan; Thuestad, Inger Johanne; Visuttijai, Kittichate; Geijer, Mats; Begemann, Matthias; Kraft, Florian; Lausberg, Eva; Hitpass, Lea; Götzl, Rebekka; Luna, Elizabeth J; Lochmüller, Hanns; Koschmieder, Steffen; Gramlich, Michael; Gess, Burkhard; Elbracht, Miriam; Weis, Joachim; Kurth, Ingo; Oldfors, Anders; Knopp, Cordula.
Afiliação
  • Hedberg-Oldfors C; Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
  • Meyer R; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Nolte K; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Abdul Rahim Y; Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
  • Lindberg C; Department of Neurology, Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Karason K; Department of Cardiology and Transplant Institute, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Thuestad IJ; Department of Pediatrics, Skane University Hospital, Malmo, Sweden.
  • Visuttijai K; Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
  • Geijer M; Department of Radiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
  • Begemann M; Department of Clinical Sciences, Lund University, Lund, Sweden.
  • Kraft F; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Lausberg E; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Hitpass L; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Götzl R; Department of Diagnostic and Interventional Radiology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Luna EJ; Department of Plastic Surgery, Hand and Burn Surgery, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Lochmüller H; Division of Cell Biology and Imaging, Department of Radiology, University of Massachusetts Medical School, Worcester, USA.
  • Koschmieder S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
  • Gramlich M; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
  • Gess B; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Elbracht M; Department of Invasive Electrophysiology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Weis J; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Oldfors A; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Knopp C; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Brain ; 143(8): 2406-2420, 2020 08 01.
Article em En | MEDLINE | ID: mdl-32779703
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Proteínas dos Microfilamentos / Doenças Musculares Tipo de estudo: Etiology_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana / Proteínas dos Microfilamentos / Doenças Musculares Tipo de estudo: Etiology_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article