ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Journal of Neurology

Volumn 261, Issue 11, 2014, Pages 2192-2198

  Balreira, Andrea ^a   Boczonadi, Veronika ^b   Barca, Emanuele ^a   Pyle, Angela ^b   Bansagi, Boglarka ^b   Appleton, Marie ^b   Graham, Claire ^b   Hargreaves, Iain P ^c   Rasic, Vedrana Milic ^d   Lochmüller, Hanns ^b   Griffin, Helen ^b   Taylor, Robert W ^b   Naini, Ali ^a   Chinnery, Patrick F ^b   Hirano, Michio ^a   Quinzii, Catarina M ^a   Horvath, Rita ^b  

^a NewYork Presbyterian Hospital   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

ANO10; Autosomal recessive ataxia; Coenzyme Q10 (CoQ10) deficiency; Mitochondrial

Indexed keywords

ANOCTAMIN 10; CALCIUM ACTIVATED CHLORIDE CHANNEL; UBIDECARENONE; UNCLASSIFIED DRUG; ANO10 PROTEIN, HUMAN; MEMBRANE PROTEIN; UBIQUINONE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 10; CATARACT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CLONUS; COGNITIVE DEFECT; COMPLEX III DEFICIENCY; DISABILITY; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; ENZYME DEFICIENCY; EXOME; FEMALE; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LEARNING DISORDER; LIMITED MOBILITY; MIDDLE AGED; MOLECULAR GENETICS; MUSCLE; MUSCLE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; ONSET AGE; PRIORITY JOURNAL; PTOSIS; RETINA DEGENERATION; SKELETAL MUSCLE; SLURRED SPEECH; SUPPLEMENTATION; TENDON REFLEX; UBIDECARENONE DEFICIENCY; ADOLESCENT; ATAXIA; CASE REPORT; CHILD; DEFICIENCY; GENETICS; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUTATION; YOUNG ADULT;

ADOLESCENT; ADULT; ATAXIA; CHILD; FEMALE; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUTATION; UBIQUINONE; YOUNG ADULT;

EID: 84920992858     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7476-7     Document Type: Article

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