Heterogeneous patterns of tissue injury in NARP syndrome

Journal of Neurology

Volumn 258, Issue 3, 2011, Pages 440-448

  Gelfand, Jeffrey M ^a   Duncan, Jacque L ^a   Racine, Caroline A ^a   Gillum, Leslie A ^a   Chin, Cynthia T ^a   Zhang, Yuhua ^b   Zhang, Qing ^c   Wong, Lee Jun C ^d   Roorda, Austin ^b   Green, Ari J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c INDIANA UNIVERSITY   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cerebellar disease; Mitochondrial disorders; Neuroophthalmology; Neuropathy; Neuropsychology

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BASAL GANGLION; CEREBELLUM ATROPHY; CEREBELLUM DEGENERATION; CLINICAL ARTICLE; COGNITIVE DEFECT; COLOR VISION TEST; DAUGHTER; DEPRESSION; DISEASE SEVERITY; ECTODERM; ELECTROMYOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAIR ROOT; HETEROPLASMY; HUMAN; HUMAN TISSUE; INTELLIGENCE; LEUKOCYTE; MESODERM; MOTHER; NARP SYNDROME; NERVE CONDUCTION; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTICAL COHERENCE TOMOGRAPHY; PERIPHERAL NEUROPATHY; PHENOTYPE; PHOTORECEPTOR; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYNEUROPATHY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RETINA; RETINITIS PIGMENTOSA; SCANNING LASER OPHTHALMOSCOPY; SENSORIMOTOR AXONAL POLYNEUROPATHY; SLIT LAMP; TISSUE INJURY; VERBAL MEMORY; VISUAL ACUITY; WORKING MEMORY;

ADOLESCENT; ADULT; ATAXIA; DNA, MITOCHONDRIAL; FEMALE; GENETIC HETEROGENEITY; HUMANS; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; OXIDATIVE PHOSPHORYLATION COUPLING FACTORS; PHENOTYPE; POINT MUTATION; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 79953306468     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5775-1     Document Type: Article

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