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Differential diagnosis of vacuolar myopathies in the NGS era.
Mair, Dorothea; Biskup, Saskia; Kress, Wolfram; Abicht, Angela; Brück, Wolfgang; Zechel, Sabrina; Knop, Karl Christian; Koenig, Fatima Barbara; Tey, Shelisa; Nikolin, Stefan; Eggermann, Katja; Kurth, Ingo; Ferbert, Andreas; Weis, Joachim.
Afiliación
  • Mair D; Institute of Neuropathology, RWTH Aachen University, Aachen, Germany.
  • Biskup S; Department of Neurology, Kassel School of Medicine, Klinikum Kassel, Kassel, Germany.
  • Kress W; University of Southampton, Southampton, UK.
  • Abicht A; Centre for Genomics and Transcriptomics CeGaT, Tübingen, Germany.
  • Brück W; Institute of Human Genetics, University Würzburg, Würzburg, Germany.
  • Zechel S; Medical Genetics Centre MGZ, Munich, Germany.
  • Knop KC; Institute of Neuropathology, Göttingen University, Göttingen, Germany.
  • Koenig FB; Institute of Neuropathology, Göttingen University, Göttingen, Germany.
  • Tey S; Neurologie Neuer Wall, Hamburg, Germany.
  • Nikolin S; Institute of Pathology, Klinikum Kassel, Kassel, Germany.
  • Eggermann K; Institute of Neuropathology, RWTH Aachen University, Aachen, Germany.
  • Kurth I; Institute of Neuropathology, RWTH Aachen University, Aachen, Germany.
  • Ferbert A; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
  • Weis J; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
Brain Pathol ; 30(5): 877-896, 2020 09.
Article en En | MEDLINE | ID: mdl-32419263
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedades Musculares Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Pathol Asunto de la revista: CEREBRO / PATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedades Musculares Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Pathol Asunto de la revista: CEREBRO / PATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania