Clinical/Scientific notes

Neurology

Volumn 79, Issue 11, 2012, Pages 1181-1182

  Waters, Michael F ^a   Subramony, Sankarasubramoney H ^a   Advincula, Joel ^b   Perlman, Susan ^c   Ashizawa, Tetsuo ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b WEST VISAYAS STATE UNIVERSITY   (Philippines)

^c UCLA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEIC ACID BINDING PROTEIN; SPINOCEREBELLAR ATAXIA TYPE 13 PROTEIN; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL; KCNC3 PROTEIN, HUMAN; SHAW POTASSIUM CHANNEL;

ALLELE; CLINICAL PROTOCOL; DYSARTHRIA; EPILEPSY; FILIPINO; GENE MUTATION; GENOTYPE; HUMAN; IN VITRO STUDY; MENTAL DEFICIENCY; NOTE; OCULOMOTOR SYSTEM; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR ATAXIA TYPE 13; SPINOCEREBELLAR DEGENERATION; VISUAL SYSTEM; WILD TYPE; AGED; ARTICLE; CHILD; EYE MOVEMENT; GENETICS; MIDDLE AGED;

AGED; AGED, 80 AND OVER; CHILD; EYE MOVEMENTS; HUMANS; MIDDLE AGED; PHENOTYPE; SHAW POTASSIUM CHANNELS; SPINOCEREBELLAR DEGENERATIONS;

EID: 84867504181     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182698d5c     Document Type: Article

References (7)

1. Waters MF, Minassian NA, Stevanin G, et al. Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes. Nat Genet 2006;38:447-451.
2. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;21:1151-1155.
3. Schelhaas HJ, Ippel PF, Beemer FA, et al. Similarities and differences in the phenotype, genotype, and pathogenesis of different spinocerebellar ataxias. Eur J Neurol 2000;7: 309-314.
4. Fogel BL, Perlman S. An approach to the patient with late-onset cerebellar ataxia. Nat Clin Pract 2006;2:629-635.
5. Schmitz-Hübsch T, Tezenas du Montcel S, et al. Scale for the assessment and rating of ataxia: Development of a new scale. Neurology 2006;66:1717-1720.
6. Subramony SH, May W, Lynch D, et al. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. Neurology 2005;64:1261-1262.
7. Buttner N, Geschwind D, Jen JC, et al. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol 1998;55:1353-1357.