Primary diagnosis of Wolfram syndrome in an adult patient - Case report and description of a novel pathogenic mutation

Journal of the Neurological Sciences

Volumn 300, Issue 1-2, 2011, Pages 191-193

  Waschbisch, Anne ^a   Volbers, Bastian ^a   Struffert, Tobias ^a   Hoyer, Juliane ^a   Schwab, Stefan ^a   Bardutzky, Juergen ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Central hypoventilation; DIDMOAD; Hot cross bun sign; Neurodegeneration; Retinitis pigmentosa; WFS1; Wolfram syndrome; Wolframin

Indexed keywords

MEMBRANE PROTEIN; UNCLASSIFIED DRUG; WOLFRAMIN;

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL ASSESSMENT; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC CODE; HUMAN; HYPOVENTILATION; NEUROIMAGING; PARKINSONISM; PRIORITY JOURNAL; RARE DISEASE; RESPIRATORY FAILURE; RETINITIS PIGMENTOSA; WOLFRAM SYNDROME;

ADULT; BRAIN; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MUTATION; WOLFRAM SYNDROME;

EID: 78650517178     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.08.044     Document Type: Article

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