Literature DB >> 22933745

Oculomotor and visual axis systems sparing in spinocerebellar ataxia type 13(R420H).

Michael F Waters1, Sankarasubramoney H Subramony, Joel Advincula, Susan Perlman, Tetsuo Ashizawa.   

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Year:  2012        PMID： 22933745      PMCID： PMC3525304          DOI： 10.1212/WNL.0b013e3182698d5c

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.

Authors:  S H Subramony; W May; D Lynch; C Gomez; K Fischbeck; M Hallett; P Taylor; R Wilson; T Ashizawa
Journal:  Neurology       Date:  2005-04-12       Impact factor: 9.910

2.  Classification of the hereditary ataxias and paraplegias.

Authors:  A E Harding
Journal:  Lancet       Date:  1983-05-21       Impact factor: 79.321

3.  An approach to the patient with late-onset cerebellar ataxia.

Authors:  Brent L Fogel; Susan Perlman
Journal:  Nat Clin Pract Neurol       Date:  2006-11

4.  Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Authors:  Michael F Waters; Natali A Minassian; Giovanni Stevanin; Karla P Figueroa; John P A Bannister; Dagmar Nolte; Allan F Mock; Virgilio Gerald H Evidente; Dominic B Fee; Ulrich Müller; Alexandra Dürr; Alexis Brice; Diane M Papazian; Stefan M Pulst
Journal:  Nat Genet       Date:  2006-02-26       Impact factor: 38.330

5.  Scale for the assessment and rating of ataxia: development of a new clinical scale.

Authors:  T Schmitz-Hübsch; S Tezenas du Montcel; L Baliko; J Berciano; S Boesch; C Depondt; P Giunti; C Globas; J Infante; J-S Kang; B Kremer; C Mariotti; B Melegh; M Pandolfo; M Rakowicz; P Ribai; R Rola; L Schöls; S Szymanski; B P van de Warrenburg; A Dürr; T Klockgether; Roberto Fancellu
Journal:  Neurology       Date:  2006-06-13       Impact factor: 9.910

Review 6.  Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias.

Authors:  H J Schelhaas; P F Ippel; F A Beemer; G Hageman
Journal:  Eur J Neurol       Date:  2000-05       Impact factor: 6.089

7.  Oculomotor phenotypes in autosomal dominant ataxias.

Authors:  N Buttner; D Geschwind; J C Jen; S Perlman; S M Pulst; R W Baloh
Journal:  Arch Neurol       Date:  1998-10
  7 in total
  2 in total

Review 1.  Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.

Authors:  Joanna C Jen; Tetsuo Ashizawa; Robert C Griggs; Michael F Waters
Journal:  Nat Rev Neurol       Date:  2016-03-04       Impact factor: 42.937

2.  Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

Authors:  S H Subramony; Joel Advincula; Susan Perlman; Raymond L Rosales; Lillian V Lee; Tetsuo Ashizawa; Michael F Waters
Journal:  Cerebellum       Date:  2013-12       Impact factor: 3.847
  2 in total

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