메뉴 건너뛰기




Volumn 58, Issue 2, 2005, Pages 337-340

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA;

EID: 23244454643     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20555     Document Type: Article
Times cited : (33)

References (20)
  • 1
    • 0035949746 scopus 로고    scopus 로고
    • Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
    • Rantamäki M, Krahe R, Paetau A, et al. Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology 2001;57:1043-1049.
    • (2001) Neurology , vol.57 , pp. 1043-1049
    • Rantamäki, M.1    Krahe, R.2    Paetau, A.3
  • 2
    • 4944260285 scopus 로고    scopus 로고
    • Mitochondrial disorders
    • Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004; 127:2153-2172.
    • (2004) Brain , vol.127 , pp. 2153-2172
    • Zeviani, M.1    Di Donato, S.2
  • 3
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
    • Schöls L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304.
    • (2004) Lancet Neurol , vol.3 , pp. 291-304
    • Schöls, L.1    Bauer, P.2    Schmidt, T.3
  • 4
    • 0032539612 scopus 로고    scopus 로고
    • Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
    • Körkkö J, Annunen S, Pihlajamaa T, et al. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 1998;95:1681-1685.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1681-1685
    • Körkkö, J.1    Annunen, S.2    Pihlajamaa, T.3
  • 5
    • 0033927890 scopus 로고    scopus 로고
    • Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis
    • Finnilä S, Hassinen IE, Ala-Kokko L, Majamaa K. Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis. Am J Hum Genet 2000;66:1017-1026.
    • (2000) Am J Hum Genet , vol.66 , pp. 1017-1026
    • Finnilä, S.1    Hassinen, I.E.2    Ala-Kokko, L.3    Majamaa, K.4
  • 6
    • 0028149366 scopus 로고
    • Convenient single-step, one tube purification of PCR products for direct sequencing
    • Werle E, Schneider C, Renner M, et al. Convenient single-step, one tube purification of PCR products for direct sequencing. Nucleic Acids Res 1994;22:4354-4355.
    • (1994) Nucleic Acids Res , vol.22 , pp. 4354-4355
    • Werle, E.1    Schneider, C.2    Renner, M.3
  • 7
    • 0032868141 scopus 로고    scopus 로고
    • Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
    • Andrews RM, Kubacka I, Chinnery PF, et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999;23:147.
    • (1999) Nat Genet , vol.23 , pp. 147
    • Andrews, R.M.1    Kubacka, I.2    Chinnery, P.F.3
  • 8
  • 9
    • 0027166021 scopus 로고
    • A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
    • de Vries DD, van Engelen BGM, Gabreëls FJM, et al. 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
    • De Vries, D.D.1    Van Engelen, B.G.M.2    Gabreëls, F.J.M.3
  • 10
    • 0032192378 scopus 로고    scopus 로고
    • Phenotypic variability in a family with a mitochondrial DNA T8993C mutation
    • Suzuki Y, Wada T, Sakai T, et al. Phenotypic variability in a family with a mitochondrial DNA T8993C mutation. Pediatr Neurol 1998;19:283-286.
    • (1998) Pediatr Neurol , vol.19 , pp. 283-286
    • Suzuki, Y.1    Wada, T.2    Sakai, T.3
  • 11
    • 9144224757 scopus 로고    scopus 로고
    • Familiar mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study
    • Sciacco M, Prelle A, D'Adda E, et al. Familiar mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study. J Neurol 2003;250:1498-1500.
    • (2003) J Neurol , vol.250 , pp. 1498-1500
    • Sciacco, M.1    Prelle, A.2    D'Adda, E.3
  • 12
    • 0029877629 scopus 로고    scopus 로고
    • Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
    • Santorelli FM, Mak SC, Vǎzquez-Memije ME, et al. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 1996;39:914-917.
    • (1996) Pediatr Res , vol.39 , pp. 914-917
    • Santorelli, F.M.1    Mak, S.C.2    Vǎzquez-Memije, M.E.3
  • 13
    • 0035092240 scopus 로고    scopus 로고
    • The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
    • Darin N, Oldfors A, Moslemi A-R, et al. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001;49:377-383.
    • (2001) Ann Neurol , vol.49 , pp. 377-383
    • Darin, N.1    Oldfors, A.2    Moslemi, A.-R.3
  • 14
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003;126:1905-1912.
    • (2003) Brain , vol.126 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thorburn, D.R.3
  • 15
    • 0032231623 scopus 로고    scopus 로고
    • Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic asidosis, and strokelike episodes: Prevalence of the mutation in an adult population
    • Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic asidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998;63: 447-454.
    • (1998) Am J Hum Genet , vol.63 , pp. 447-454
    • Majamaa, K.1    Moilanen, J.S.2    Uimonen, S.3
  • 16
    • 0037322524 scopus 로고    scopus 로고
    • The epidemiology of Leber hereditary optic neuropathy in the North East of England
    • Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003;72:333-339.
    • (2003) Am J Hum Genet , vol.72 , pp. 333-339
    • Man, P.Y.1    Griffiths, P.G.2    Brown, D.T.3
  • 17
    • 0036582612 scopus 로고    scopus 로고
    • Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations
    • Chinnery PF, Brown DT, Archibald K, et al. Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations. J Med Genet 2002;39:e22.
    • (2002) J Med Genet , vol.39
    • Chinnery, P.F.1    Brown, D.T.2    Archibald, K.3
  • 18
    • 0035178023 scopus 로고    scopus 로고
    • The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
    • Di Donato S, Cellera C, Mariotti C. The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Neurol Sci 2001;22:219-228.
    • (2001) Neurol Sci , vol.22 , pp. 219-228
    • Di Donato, S.1    Cellera, C.2    Mariotti, C.3
  • 19
    • 20844442462 scopus 로고    scopus 로고
    • POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    • Van Goethem G, Luoma P, Rantamäki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-1257.
    • (2004) Neurology , vol.63 , pp. 1251-1257
    • Van Goethem, G.1    Luoma, P.2    Rantamäki, M.3
  • 20
    • 16844382687 scopus 로고    scopus 로고
    • Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
    • Winterthun S, Ferrari G, He L, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology 2005;64:1204-1208.
    • (2005) Neurology , vol.64 , pp. 1204-1208
    • Winterthun, S.1    Ferrari, G.2    He, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.