Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X [7]

Journal of Neurology

Volumn 253, Issue 10, 2006, Pages 1372-1373

  Yamamoto, Yoichi ^a   Nakamori, Masayuki ^a   Konaka, Kuni ^a   Nagano, Seiichi ^a   Shimazaki, Haruo ^b   Takiyama, Yoshihisa ^b   Sakoda, Saburo ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PROTEIN; SACSIN; UNCLASSIFIED DRUG;

ADULT; ATAXIA; CASE REPORT; CEREBELLUM ATROPHY; DNA EXTRACTION; EVOKED MUSCLE RESPONSE; FEMALE; GAIT; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; INTELLIGENCE QUOTIENT; LETTER; MOTOR ACTIVITY; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SPASTICITY; SPEECH DISORDER;

ADULT; ATAXIA; BRAIN; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HEAT-SHOCK PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; PHENOTYPE;

EID: 33750610993     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0252-6     Document Type: Letter

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