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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

ISSN
0885-3185
Scientific domain
Neurology
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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