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Volumn 29, Issue 1, 2014, Pages 139-143

Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

Author keywords

Ataxia; GOSR2 mutation; Myoclonus; Progressive myoclonus ataxia; Ramsay Hunt

Indexed keywords

PROTEIN;

EID: 84892926645     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25704     Document Type: Article
Times cited : (46)

References (8)
  • 1
    • 77957177337 scopus 로고
    • Dyssynergia cerebellaris myoclonica-primary atrophy of the dentate system: a contribution to the pathology and symptomatology of the cerebellum
    • Ramsay Hunt J. Dyssynergia cerebellaris myoclonica-primary atrophy of the dentate system: a contribution to the pathology and symptomatology of the cerebellum. Brain 1921;44:490-538.
    • (1921) Brain , vol.44 , pp. 490-538
    • Ramsay Hunt, J.1
  • 4
    • 0025167681 scopus 로고
    • Progressive myoclonic ataxia (the Ramsay Hunt syndrome)
    • Marsden CD, Harding AE, Obeso JA, Lu CS. Progressive myoclonic ataxia (the Ramsay Hunt syndrome). Arch Neurol 1990;47:1121-1125.
    • (1990) Arch Neurol , vol.47 , pp. 1121-1125
    • Marsden, C.D.1    Harding, A.E.2    Obeso, J.A.3    Lu, C.S.4
  • 5
    • 34347239706 scopus 로고    scopus 로고
    • PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype
    • Visser JE, Bloem BR, van de Warrenburg BP. PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. Mov Disord 2007;22:1024-1026.
    • (2007) Mov Disord , vol.22 , pp. 1024-1026
    • Visser, J.E.1    Bloem, B.R.2    van de Warrenburg, B.P.3
  • 6
    • 79955868512 scopus 로고    scopus 로고
    • A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
    • Corbett MA, Schwake M, Bahlo M, et al. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet 2011;88:657-663.
    • (2011) Am J Hum Genet , vol.88 , pp. 657-663
    • Corbett, M.A.1    Schwake, M.2    Bahlo, M.3
  • 8
    • 0024477042 scopus 로고
    • The Ramsay Hunt syndrome is a useful clinical entity
    • Marsden CD, Obeso JA. The Ramsay Hunt syndrome is a useful clinical entity. Mov Disord 1989;4:6-12.
    • (1989) Mov Disord , vol.4 , pp. 6-12
    • Marsden, C.D.1    Obeso, J.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.