A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy
- Author
- HORVATH, Rita1 2 ; HOLINSKI-FEDER, Elke2 ; NURNBERG, Peter3 4 5 ; KORTLER, Jörg2 ; NEITZEL, Birgit2 ; BÄSSMANN, Ingelore3 ; RAHMAN, Thahira1 ; KEAVNEY, Bernard1 ; LOUGHLIN, John6 ; HAMBLETON, Sophie6 ; SCHOSER, Benedikt7 ; LOCHMÜLLER, Hanns1 ; NEEVE, Vivienne C. M1 ; SANTIBANEZ-KOREF, Mauro1 ; CHINNERY, Patrick F1 ; PYLE, Angela1 ; GRIFFIN, Helen1 ; ASHOK, Deephthi1 ; FOLEY, Charlotte1 ; HUDSON, Gavin1 ; RAUTENSTRAUSS, Bernd2 ; NURNBERG, Gudrun3 4 5
[1] Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
[2] Medical Genetics Center Munich, Munich, Germany
[3] Cologne Center for Genomics, University of Cologne, Cologne, Germany
[4] Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
[5] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
[6] Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
[7] Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilian University Munich, Munich, Germany - Source
Movement disorders. 2012, Vol 27, Num 6, pp 789-793, 5 p ; ref : 14 ref
- Publisher
- Wiley, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- C19orf12 dystonia neurodegeneration with brain iron accumulation (NBIA) peripheral neuropathy
- Keyword (fr)
- Ataxie optique Atrophie du nerf optique Dystonie Encéphale Fer Neuropathie optique Pathologie du système nerveux périphérique Pathologie du système nerveux Phénotype Mouvement involontaire Pathologie de l'encéphale Pathologie de l'oeil Pathologie des nerfs crâniens Pathologie du muscle strié Pathologie du système nerveux central Syndrome extrapyramidal Système nerveux central Trouble neurologique
- Keyword (en)
- Optic ataxia Optic nerve atrophy Dystonia Encephalon Iron Optic neuropathy Peripheral nerve disease Nervous system diseases Phenotype Involuntary movement Cerebral disorder Eye disease Cranial nerve disease Striated muscle disease Central nervous system disease Extrapyramidal syndrome Central nervous system Neurological disorder
- Keyword (es)
- Ataxia óptica Atrofia nervio óptico Distonía Encéfalo Hierro Neuropatía óptica Nervio periférico patología Sistema nervioso patología Fenotipo Movimiento involuntario Encéfalo patología Ojo patología Nervio craneal patología Músculo estriado patología Sistema nervosio central patología Extrapiramidal síndrome Sistema nervioso central Trastorno neurológico
- Classification
- 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
- 25968904
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
10.1002/mds.24980 
https://dx.doi.org/10.1002/mds.24980
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