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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano, Macarena; Caccavelli, Laure; Savarese, Marco; Vihola, Anna; Jokela, Manu; Johari, Mridul; Capiod, Thierry; Madrange, Marine; Bugiardini, Enrico; Brady, Stefen; Quinlivan, Rosaline; Merve, Ashirwad; Scalco, Renata; Hilton-Jones, David; Houlden, Henry; Aydin, Halil Ibrahim; Ceylaner, Serdar; Drewes, Sarah; Vockley, Jerry; Taylor, Rhonda L; Folland, Chiara; Kelly, Aasta; Goullee, Hayley; Ylikallio, Emil; Auranen, Mari; Tyynismaa, Henna; Udd, Bjarne; Forrest, Alistair R R; Davis, Mark R; Bratkovic, Drago; Manton, Nicholas; Robertson, Thomas; O'Gorman, Cullen; McCombe, Pamela; Laing, Nigel G; Phillips, Liza; de Lonlay, Pascale; Ravenscroft, Gianina.
Affiliation
  • Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Caccavelli L; Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Savarese M; Unidad de Enfermedades Neuromusculares. Servicio de Neurologia y Neurofisiologia, Hospital Virgen del Rocio, Sevilla, Spain.
  • Vihola A; Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and MetabERN, Necker-Enfants-Malades Hospital, Paris University, Paris, France.
  • Jokela M; Folkhälsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Johari M; Folkhälsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Capiod T; Tampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.
  • Madrange M; Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, Tampere, Finland.
  • Bugiardini E; Neurocenter, Department of Neurology, Clinical Neurosciences, Turku University Hospital and University of Turku, Turku, Finland.
  • Brady S; Folkhälsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Quinlivan R; Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and MetabERN, Necker-Enfants-Malades Hospital, Paris University, Paris, France.
  • Merve A; Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and MetabERN, Necker-Enfants-Malades Hospital, Paris University, Paris, France.
  • Scalco R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Hilton-Jones D; Department of Neurology, Southmead Hospital, Bristol, UK.
  • Houlden H; MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK.
  • Aydin HI; MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK.
  • Ceylaner S; MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK.
  • Drewes S; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Vockley J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Taylor RL; Department of Pediatrics, Baskent University, Ankara, Turkey.
  • Folland C; Intergen Genetic Diagnosis and Research Center, Ankara, Turkey.
  • Kelly A; UPMC Children's Hospital of Pittsburgh Pittsburgh, Pennsylvania, USA.
  • Goullee H; University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Ylikallio E; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Auranen M; Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Tyynismaa H; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Udd B; Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Forrest ARR; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Davis MR; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
  • Bratkovic D; Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Manton N; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Robertson T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki 00290 Helsinki, Finland.
  • O'Gorman C; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • McCombe P; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki 00290 Helsinki, Finland.
  • Laing NG; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
  • Phillips L; Folkhälsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • de Lonlay P; Tampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.
  • Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
Brain ; 145(11): 3985-3998, 2022 11 21.
Article in En | MEDLINE | ID: mdl-34957489
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Calcium Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Australia Country of publication: Reino Unido
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Calcium Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Humans Language: En Journal: Brain Year: 2022 Document type: Article Affiliation country: Australia Country of publication: Reino Unido