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Volumn 48, Issue 4, 1997, Pages 1066-1069

Rapid-onset dystonia-parkinsonism in a second family

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA;

EID: 0030950937     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.4.1066     Document Type: Article
Times cited : (81)

References (13)
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    • Lang, A.E.1    Fahn, S.2
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    • Lebert's disease and dystonia: A mitochondrial disease
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    • Novotny, E.J.1    Singh, G.2    Wallace, D.C.3
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    • A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
    • Thyagarajan D, Shanske S, Vazquez-Memije M, DeVivo D, DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995;38:468-472.
    • (1995) Ann Neurol , vol.38 , pp. 468-472
    • Thyagarajan, D.1    Shanske, S.2    Vazquez-Memije, M.3    DeVivo, D.4    DiMauro, S.5
  • 7
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    • Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • DeVries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996;58:703-711.
    • (1996) Am J Hum Genet , vol.58 , pp. 703-711
    • DeVries, D.D.1    Went, L.N.2    Bruyn, G.W.3
  • 8
    • 0027166021 scopus 로고
    • A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
    • DeVries D, van Engelen B, Gabreëls F, Ruitenbeek W, van Oost B. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993;34:410-412.
    • (1993) Ann Neurol , vol.34 , pp. 410-412
    • DeVries, D.1    Van Engelen, B.2    Gabreëls, F.3    Ruitenbeek, W.4    Van Oost, B.5
  • 9
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • Santorelli F, Shanske S, Macaya A, DeVivo D, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834.
    • (1993) Ann Neurol , vol.34 , pp. 827-834
    • Santorelli, F.1    Shanske, S.2    Macaya, A.3    DeVivo, D.4    DiMauro, S.5
  • 10
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    • Widespread tissue distribution and high percentage of an A to G transition at nt 3243 of mitochondrial tRNA Leu (UUR) gene associated with clinico-pathologically defined Leigh's disease - A final common outcome for severe defects of the OXPHOS genes
    • Koga Y, Matsuishi T, Yoshino Y, Kato H. Widespread tissue distribution and high percentage of an A to G transition at nt 3243 of mitochondrial tRNA Leu (UUR) gene associated with clinico-pathologically defined Leigh's disease - a final common outcome for severe defects of the OXPHOS genes [abstract]. Am J Hum Genetics 1995;57(suppl):1963.
    • (1995) Am J Hum Genetics , vol.57 , Issue.SUPPL. , pp. 1963
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    • Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
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    • (1996) Neurology , vol.46 , pp. 219-222
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.