Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28

JAMA Neurology

Volumn 72, Issue 1, 2015, Pages 106-111

  Gorman, Gráinne S ^a   Pfeffer, Gerald ^a   Griffin, Helen ^a   Blakely, Emma L ^a   Kurzawa Akanbi, Marzena ^a   Gabriel, Jessica ^a   Sitarz, Kamil ^a   Roberts, Mark ^b   Schoser, Benedikt ^c   Pyle, Angela ^a   Schaefer, Andrew M ^a   McFarland, Robert ^a   Turnbull, Douglass M ^a   Horvath, Rita ^a   Chinnery, Patrick F ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b HOPE HOSPITAL   (United Kingdom)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE; AFG3L2 PROTEIN, HUMAN;

ADULT; AFG3L2 GENE; AGED; ARTICLE; ATAXIC GAIT; CASE REPORT; CEREBELLUM ATROPHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; COHORT ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; DNA FRAGMENTATION; DYSARTHRIA; DYSMETRIA; FALLING; FAMILY HISTORY; FEMALE; FIBROBLAST; FLEXOR REFLEX; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MIDDLE AGED; MOLECULAR CLONING; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PTOSIS; SLURRED SPEECH; SPASTICITY; SPINOCEREBELLAR ATAXIA TYPE 28; SPINOCEREBELLAR DEGENERATION; TENDON REFLEX; WESTERN BLOTTING; ANIMAL; CASE CONTROL STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETIC ASSOCIATION; GENETICS; METABOLISM; MOLECULAR EVOLUTION; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

AGED; ANIMALS; ATP-DEPENDENT PROTEASES; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; EVOLUTION, MOLECULAR; FEMALE; FIBROBLASTS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; SPINOCEREBELLAR DEGENERATIONS;

EID: 84921060152     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.1753     Document Type: Article

References (12)

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