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FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Kapetanovic Garcia, Solange; Ardicli, Didem; Topaloglu, Haluk; Hernández-Laín, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bönnemann, Carsten; Straub, Volker; Yoon, Grace.
Affiliation
  • Mroczek M; Department of Neurology and Neurophysiology, Balgrist University Hospital, Zurich, Switzerland.
  • Longman C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Farrugia ME; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
  • Kapetanovic Garcia S; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK.
  • Ardicli D; Unidad de ELA y Neuromuscular, Hospital Universitario de Basurto, Bilbao, Spain.
  • Topaloglu H; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Hernández-Laín A; Department of Pediatric Neurology, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
  • Orhan D; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Alikasifoglu M; Department of Pediatrics, Yeditepe University, Istanbul, Turkey.
  • Duff J; Department of Pathology (Neuropathology), Hospital Universitario 12 de Octubre Research Institute (imas12), Madrid, Spain.
  • Specht S; Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Nowak K; Department of Medical Genetics, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Ravenscroft G; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Chao K; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Valivullah Z; School of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Western Australia, Nedlands, Western Australia, Australia.
  • Donkervoort S; Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.
  • Saade D; Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.
  • Bönnemann C; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Straub V; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Yoon G; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
J Med Genet ; 59(11): 1069-1074, 2022 11.
Article in En | MEDLINE | ID: mdl-35393337
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Diseases Type of study: Diagnostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Diseases Type of study: Diagnostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2022 Document type: Article Affiliation country: Country of publication: