المؤلفون: Parkinson MH; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Bartmann AP; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Clayton LMS; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Nethisinghe S; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Pfundt R; Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands., Chapple JP; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK., Reilly MM; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK., Manji H; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Wood NJ; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Bremner F; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Giunti P; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

المصدر: Brain : a journal of neurology [Brain] 2018 Apr 01; Vol. 141 (4), pp. 989-999.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Muscle Spasticity/*diagnostic imaging , Optic Nerve/*diagnostic imaging , Retina/*diagnostic imaging , Spinocerebellar Ataxias/*congenital , Tomography, Optical Coherence/*methods, Adult ; Female ; Heat-Shock Proteins ; Humans ; Male ; Middle Aged ; Muscle Spasticity/genetics ; Mutation/genetics ; Spinocerebellar Ataxias/diagnostic imaging ; Spinocerebellar Ataxias/genetics ; Young Adult

SCR Disease Name: Spastic ataxia Charlevoix-Saguenay type