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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B.
Afiliação
  • Stafki SA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.
  • Turner J; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.
  • Littel HR; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.
  • Bruels CC; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.
  • Truong D; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.
  • Knirsch U; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.
  • Stettner GM; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.
  • Graf U; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland.
  • Berger W; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland; Neuroscience Center Zurich (NCZ), University and ETH Zürich, Zürich, Switzerland; Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich, Switzerland.
  • Kinali M; Department of Brain Sciences, Imperial College London and Portland Hospital HCA International, London, United Kingdom.
  • Jungbluth H; Evelina Children's Hospital and King's College London, University of Manchester, London, United Kingdom.
  • Pacak CA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.
  • Hughes J; Amy and Friends Cockayne Syndrome/Trichothiodystrophy Support, Wirral, United Kingdom.
  • Mirchi A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.
  • Derksen A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.
  • Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
  • Theil AF; Department of Molecular Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Bernard G; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada; Department of Human Genetics, McGill University, Montreal, Canada; Division of Medic
  • Ellis D; South East Genomics Laboratory Hub, Guy's Hospital, London, United Kingdom.
  • Fassihi H; St. John's Institute of Dermatology, Rare Disease Centre, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
  • Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.
  • Laugel V; Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Mohammed S; South East Thames Regional Genetics Service and Rare Diseases Centre Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
  • Kang PB; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota. Electronic address: pkang@umn.edu.
Pediatr Neurol ; 141: 79-86, 2023 04.
Article em En | MEDLINE | ID: mdl-36791574
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article