Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

Journal of Neurology

Volumn 261, Issue 1, 2014, Pages 207-212

  Doss, Sarah ^a   Lohmann, Katja ^b   Seibler, Philip ^b   Arns, Björn ^b   Klopstock, Thomas ^c,d,e   Zühlke, Christine ^b   Freimann, Karen ^b   Winkler, Susen ^b   Lohnau, Thora ^b   Drungowski, Mario ^f,g   Nürnberg, Peter ^f,g   Wiegers, Karin ^b   Lohmann, Ebba ^h   Naz, Sadaf ⁱ   Kasten, Meike ^b   Bohner, Georg ^a   Ramirez, Alfredo ^b,j   Endres, Matthias ^a   Klein, Christine ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d German Network for Mitochondrial Disorders (MitoNET)   (Germany)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

^g ATLAS BIOLABS GMBH   (Germany)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ UNIVERSITY OF THE PUNJAB   (Pakistan)

^j UNIVERSITY OF BONN   (Germany)

more..

Author keywords

Cerebellar ataxia; Complex IV deficiency; COX20; Dystonia; DYTCA; FAM36A

Indexed keywords

ADULT; BRAIN; CELLS, CULTURED; CEREBELLAR ATAXIA; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FAMILY HEALTH; FEMALE; FIBROBLASTS; HUMANS; ION CHANNELS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA; MUTATION; RNA, MESSENGER; TRANSFECTION; TURKEY;

EID: 84895075107     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7177-7     Document Type: Article

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