首页> Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology> Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

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第一作者： Manoj P,Menezes

第一单位： Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia; Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia.

作者： Manoj P,Menezes ^[1] ; Michelle A,Farrar ^[2] ; Richard,Webster ^[3] ; Jayne,Antony ^[4] ; Katherine,O'Brien ^[5] ; Robert,Ouvrier ^[1] ; Matthew C,Kiernan ^[6] ; Joshua,Burns ^[7] ; Steve,Vucic ^[8]

作者单位： Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia; Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia. ^[1] Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, Australia; Neurosciences Research Australia, Sydney, Australia; Department of Neurology, Sydney Children's Hospital, Sydney, Australia. Electronic address: m.farrar@unsw.edu.au. ^[2] Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia. ^[3] Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia. ^[4] Department of Audiology, The Children's Hospital at Westmead, Sydney, Australia. ^[5] Neurosciences Research Australia, Sydney, Australia; Sydney Medical School, Brain & Mind Research Institute, University of Sydney, Sydney, Australia. ^[6] Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Sydney, Australia; Sydney Arthritis and Musculoskeletal Research Network, The University of Sydney, Sydney, Australia. ^[7] Department of Neurology, Westmead Hospital and Western Clinical School, University of Sydney, Sydney, Australia. ^[8]

关键词 Brown–Vialetto–Van Laere (BVVL)Nerve excitability RFVT2 Riboflavin