Clinical features and natural history of neuroferritinopathy caused by the FTLI 460InsA mutation
- Author
- CHINNERY, Patrick F1 2 ; CROMPTON, Douglas E1 2 ; COOPER, Paul9 ; KELLETT, Mark9 ; BATES, David2 ; BURN, John1 ; BIRCHALL, Daniel3 ; JACKSON, Margaret J2 ; COULTHARD, Alan3 4 ; LOMBES, Anne5 ; QUINN, Niall6 ; WILLS, Adrian7 ; FLETCHER, Nicholas8 ; MOTTERSHEAD, John P9
[1] Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom
[2] Department of Neurology, University of Newcastle upon Tyne, United Kingdom
[3] Department of Neuroradiology, Regional Neurosciences Centre, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom
[4] Department of Medical Imaging, University of Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia
[5] Institut National de la Santé et de la Recherche Médicale, U582, Paris, France
[6] Institute of Neurology, Queen Square, London, United Kingdom
[7] Queens Medical Centre, Nottingham, United Kingdom
[8] The Walton Centre for Neurology and Neurosurgery, Liverpool, United Kingdom
[9] Greater Manchester Centre for Clinical Neurosciences, Hope Hospital, Salford, United Kingdom - Source
Brain. 2007, Vol 130, pp 110-119, 10 p ; 1 ; ref : 29 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- chorea dystonia ferritin iron movement disorder neurodegeneration neuroferritinopathy
- Keyword (fr)
- Chorée syndrome Dystonie Fer Ferritine Mutation Système nerveux pathologie Encéphale pathologie Extrapyramidal syndrome Mouvement involontaire Muscle strié pathologie Système nerveux central pathologie Trouble neurologique
- Keyword (en)
- Chorea Dystonia Iron Ferritin Mutation Nervous system diseases Cerebral disorder Extrapyramidal syndrome Involuntary movement Striated muscle disease Central nervous system disease Neurological disorder
- Keyword (es)
- Corea síndrome Distonía Hierro Ferritina Mutación Sistema nervioso patología Encéfalo patología Extrapiramidal síndrome Movimiento involuntario Músculo estriado patología Sistema nervosio central patología Trastorno neurológico
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18404871
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1093/brain/awl319 
https://dx.doi.org/10.1093/brain/awl319
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