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Volumn 110, Issue 1, 2002, Pages 36-40

Dissecting the epidemiology of a trinucleotide repeat disease - Example of FRDA in Finland

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN;

EID: 0036461155     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0642-x     Document Type: Article
Times cited : (31)

References (27)
  • 1
    • 12244266688 scopus 로고
    • Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease
    • Almqvist E, Spence N, Nichol K, Andrew SE, Vesa J, Peltonen L, Anvret M, Goto J, Kanazawa I, Goldberg YP, Hayden MR (1995) Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease. Hum Mol Genet 4:207-214
    • (1995) Hum Mol Genet , vol.4 , pp. 207-214
    • Almqvist, E.1    Spence, N.2    Nichol, K.3    Andrew, S.E.4    Vesa, J.5    Peltonen, L.6    Anvret, M.7    Goto, J.8    Kanazawa, I.9    Goldberg, Y.P.10    Hayden, M.R.11
  • 7
    • 0031009267 scopus 로고    scopus 로고
    • Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
    • Epplen C, Epplen JT, Frank G, Miterski B, Santos EJ, Schols L (1997) Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 99:834-836
    • (1997) Hum Genet , vol.99 , pp. 834-836
    • Epplen, C.1    Epplen, J.T.2    Frank, G.3    Miterski, B.4    Santos, E.J.5    Schols, L.6
  • 9
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE (1981) Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104:589-620
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 12
    • 0030813487 scopus 로고    scopus 로고
    • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
    • Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 16:345-351
    • (1997) Nat Genet , vol.16 , pp. 345-351
    • Koutnikova, H.1    Campuzano, V.2    Foury, F.3    Dolle, P.4    Cazzalini, O.5    Koenig, M.6
  • 15
    • 0029943833 scopus 로고    scopus 로고
    • The genetic relationship between the Finns and the Finnish Saami (Lapps): Analysis of nuclear DNA and mtDNA
    • Lahermo P, Sajantila A, Sistonen P, Lukka M, Aula P, Peltonen L, Savontaus ML (1996) The genetic relationship between the Finns and the Finnish Saami (Lapps): Analysis of nuclear DNA and mtDNA. Am J Hum Genet 58:1309-1322
    • (1996) Am J Hum Genet , vol.58 , pp. 1309-1322
    • Lahermo, P.1    Sajantila, A.2    Sistonen, P.3    Lukka, M.4    Aula, P.5    Peltonen, L.6    Savontaus, M.L.7
  • 19
    • 0015436884 scopus 로고
    • The Finnish population structure. A genetic and genealogical study
    • Nevanlinna HR (1972) The Finnish population structure. A genetic and genealogical study. Hereditas 71:195-236
    • (1972) Hereditas , vol.71 , pp. 195-236
    • Nevanlinna, H.R.1
  • 20
    • 0028071914 scopus 로고
    • Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias
    • Nikali K, Koskinen T, Suomalainen A, Pihko H, Peltonen L (1994) Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. Pediatr Res 36:607-612
    • (1994) Pediatr Res , vol.36 , pp. 607-612
    • Nikali, K.1    Koskinen, T.2    Suomalainen, A.3    Pihko, H.4    Peltonen, L.5
  • 21
    • 0015858194 scopus 로고
    • Hereditary diseases in Finland; Rare flora in rare soil
    • Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland; Rare flora in rare soil. Ann Clin Res 5:109-141
    • (1973) Ann Clin Res , vol.5 , pp. 109-141
    • Norio, R.1    Nevanlinna, H.R.2    Perheentupa, J.3
  • 23
    • 0032869123 scopus 로고    scopus 로고
    • Molecular genetics of the Finnish disease heritage
    • Peltonen L, Jalanko A, Varilo T (1999) Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8:1913-1923
    • (1999) Hum Mol Genet , vol.8 , pp. 1913-1923
    • Peltonen, L.1    Jalanko, A.2    Varilo, T.3
  • 26
    • 0003442114 scopus 로고    scopus 로고
    • The age of the mutations in the Finnish disease heritage; A genealogical and linkage disequilibrium study
    • [dissertation]. National Public Health Institute, Helsinki (Findland)
    • Varilo T (1999) The age of the mutations in the Finnish disease heritage; A genealogical and linkage disequilibrium study [dissertation]. National Public Health Institute, Helsinki (Findland)
    • (1999)
    • Varilo, T.1
  • 27
    • 0030825723 scopus 로고    scopus 로고
    • Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
    • Wilson RB, Roof DM (1997) Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 16:352-357
    • (1997) Nat Genet , vol.16 , pp. 352-357
    • Wilson, R.B.1    Roof, D.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.