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Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger, René G; Mucha, Bettina E; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Nguyen, Thi Tuyet Mai; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fátima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M; Ellezam, Benjamin; Mayr, Johannes A; Schöls, Ludger; Michaud, Jacques L; Campeau, Philippe M; Haack, Tobias B; Dumont, Nicolas A.
Afiliação
  • Feichtinger RG; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.
  • Mucha BE; Division of Medical Genetics, Department of Specialized Medicine, McGill University Hospital Centre, Montreal, QC, Canada.
  • Hengel H; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Orfi Z; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Makowski C; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.
  • Dort J; Department for Paediatric and Adolescent Medicine, Schwabing Hospital, Technische Universität München, Munich, Germany.
  • D'Anjou G; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.
  • Nguyen TTM; Department of Neurosciences, Université de Montréal, Montreal, QC, Canada.
  • Buchert R; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada.
  • Juenger H; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.
  • Freisinger P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Baumeister S; Department of Pediatrics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Schoser B; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
  • Ahting U; Kreiskliniken Reutlingen, Klinik für Kinder- und Jugendmedizin, Klinikum am Steinenberg, Reutlingen, Germany.
  • Keimer R; Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Munich, Germany.
  • Nguyen CE; Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Munich, Germany.
  • Fabre P; Institute of Human Genetics, Technische Universität München, München, Germany.
  • Gauthier J; Kinderklinik, Stauferklinik, Schwäbisch Gmünd, Germany.
  • Miguet M; CHU Sainte-Justine, Montreal, QC, Canada.
  • Lopes F; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.
  • AlHakeem A; CHU Sainte-Justine, Montreal, QC, Canada.
  • AlHashem A; CHU Sainte-Justine, Montreal, QC, Canada.
  • Tabarki B; CHU Sainte-Justine, Montreal, QC, Canada.
  • Kandaswamy KK; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
  • Bauer P; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Medical Military City, Military City, Saudi Arabia.
  • Steinbacher P; Division of Medical Genetics, Department of Pediatrics, Prince Sultan Medical Military City, Military City, Saudi Arabia.
  • Prokisch H; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Sturm M; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Medical Military City, Military City, Saudi Arabia.
  • Strom TM; Centogene AG, Rostock, Germany.
  • Ellezam B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Mayr JA; Centogene AG, Rostock, Germany.
  • Schöls L; Department of Biosciences, University of Salzburg, Salzburg, Austria.
  • Michaud JL; Institute of Human Genetics, Technische Universität München, München, Germany.
  • Campeau PM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Dumont NA; Institute of Human Genetics, Technische Universität München, München, Germany.
Genet Med ; 21(11): 2521-2531, 2019 11.
Article em En | MEDLINE | ID: mdl-31092906
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Transcrição PAX7 / Doenças Musculares Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 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: Fator de Transcrição PAX7 / Doenças Musculares Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article