A phenotype without spasticity in sacsin-related ataxia

Neurology

Volumn 64, Issue 12, 2005, Pages 2129-2131

  Shimazaki, H ^a   Takiyama, Y ^a   Sakoe, K ^a   Ando, Y ^a   Nakano, I ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN SACSIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; DEFORMITY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPASTICITY;

ADULT; AFFERENT PATHWAYS; AGE OF ONSET; AMINO ACID SUBSTITUTION; ATAXIA; CEREBELLAR DISEASES; CEREBELLUM; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; GENETIC SCREENING; HEAT-SHOCK PROTEINS; HUMANS; JAPAN; MALE; MUSCLE SPASTICITY; MUTATION, MISSENSE; PERIPHERAL NERVES; PHENOTYPE;

EID: 21144442722     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000166031.91514.B3     Document Type: Article

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