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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos, Andreas; van der Ven, Peter F M; Alrohaif, Hadil; Kölbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Aßent, Marvin; Beck-Wödl, Stefanie; Barresi, Rita; Töpf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J; Vorgerd, Matthias; Schröder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Röbisch, Luisa; Hentschel, Andreas; Grüneboom, Anika; Fuerst, Dieter O; Kuechler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmüller, Hanns.
Afiliação
  • Roos A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
  • van der Ven PFM; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.
  • Alrohaif H; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
  • Kölbel H; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
  • Heil L; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
  • Della Marina A; Kuwait Medical Genetics Center, Sabah Hospital, Kuwait City, Kuwait.
  • Weis J; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
  • Aßent M; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
  • Beck-Wödl S; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
  • Barresi R; Institute of Neuropathology, RWTH Aachen University Hospital, 52074 Aachen, Germany.
  • Töpf A; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
  • O'Connor K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
  • Sickmann A; San Camillo IRCCS, 30126 Venezia - Lido, Italy.
  • Kohlschmidt N; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
  • El Gizouli M; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.
  • Meyer N; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
  • Daya N; Institute of Clinical Genetics and Tumour Genetics, 53111 Bonn, Germany.
  • Grande V; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
  • Bois K; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
  • Kaiser FJ; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
  • Vorgerd M; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
  • Schröder C; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
  • Schara-Schmidt U; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
  • Gangfuss A; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
  • Evangelista T; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
  • Röbisch L; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
  • Hentschel A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
  • Grüneboom A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
  • Fuerst DO; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, 75013 Paris, France.
  • Kuechler A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
  • Tzschach A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
  • Depienne C; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
  • Lochmüller H; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Brain ; 146(10): 4200-4216, 2023 10 03.
Article em En | MEDLINE | ID: mdl-37163662
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteômica / Doenças Musculares Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteômica / Doenças Musculares Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha