Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.

Autor: Steel D; Molecular Neurosciences, Developmental Neurosciences, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Heim J; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA., Kruer MC; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Department of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, United Kingdom., Raymond LF; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals National Health Service (NHS) Foundation Trust, Cambridge, United Kingdom.; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Eunson P; Department of Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh, Scotland., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Feb; Vol. 35 (2), pp. 372-373. Date of Electronic Publication: 2020 Jan 10.
DOI: 10.1002/mds.27981
Databáze: MEDLINE