메뉴 건너뛰기




Volumn 1659, Issue 2-3, 2004, Pages 115-120

The epidemiology of mitochondrial disorders - Past, present and future

Author keywords

Epidemiology; Mitochondria; Mitochondrial disease; Mitochondrial encephalomyopathy; mtDNA

Indexed keywords

CONFERENCE PAPER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; HEALTH CARE PERSONNEL; HUMAN; MEDICAL INFORMATION; MOLECULAR GENETICS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL;

EID: 9644274004     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2004.09.005     Document Type: Conference Paper
Times cited : (321)

References (31)
  • 2
    • 0023883150 scopus 로고
    • Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • I. Holt, A.E. Harding, and J.A. Morgan-Hughes Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies Nature 331 1988 717 719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 4
    • 0037096760 scopus 로고    scopus 로고
    • Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case-control study
    • J. Poulton, J. Luan, V. Macaulay, S. Hennings, J. Mitchell, and N.J. Wareham Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study Hum. Mol. Genet. 11 2002 1581 1583
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1581-1583
    • Poulton, J.1    Luan, J.2    MacAulay, V.3    Hennings, S.4    Mitchell, J.5    Wareham, N.J.6
  • 11
    • 0023179362 scopus 로고
    • Ischaemic stroke in adults younger than 30 years of age
    • J. Bogousslavsky, and F. Regli Ischaemic stroke in adults younger than 30 years of age Arch. Neurol. 44 1987 479 482
    • (1987) Arch. Neurol. , vol.44 , pp. 479-482
    • Bogousslavsky, J.1    Regli, F.2
  • 13
    • 0028328317 scopus 로고
    • A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
    • T. Kadowaki, H. Kadowaki, Y. Mori, K. Tobe, R. Sakuti, and Y. Susuki A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA N. Engl. J. Med. 330 1994 962 968
    • (1994) N. Engl. J. Med. , vol.330 , pp. 962-968
    • Kadowaki, T.1    Kadowaki, H.2    Mori, Y.3    Tobe, K.4    Sakuti, R.5    Susuki, Y.6
  • 14
    • 0034956801 scopus 로고    scopus 로고
    • The epidemiology and treatment of mitochondrial disease
    • P.F. Chinnery, and D.M. Turnbull The epidemiology and treatment of mitochondrial disease Am. J. Med. Genet. 106 2001 94 101
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 94-101
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 18
    • 0042708221 scopus 로고    scopus 로고
    • Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy
    • R.W. Taylor, M.S. Jobling, D.M. Turnbull, and P.F. Chinnery Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy J. Med. Genet. 40 2003 e85
    • (2003) J. Med. Genet. , vol.40
    • Taylor, R.W.1    Jobling, M.S.2    Turnbull, D.M.3    Chinnery, P.F.4
  • 21
    • 0035092240 scopus 로고    scopus 로고
    • The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
    • N. Darin, A. Oldfors, A.R. Moslemi, E. Holme, and M. Tulinius The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities Ann. Neurol. 49 2001 377 383
    • (2001) Ann. Neurol. , vol.49 , pp. 377-383
    • Darin, N.1    Oldfors, A.2    Moslemi, A.R.3    Holme, E.4    Tulinius, M.5
  • 22
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 126 2003 1905 1912
    • (2003) Brain , vol.126 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thorburn, D.R.3
  • 24
    • 0033925115 scopus 로고    scopus 로고
    • Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect
    • C. Macmillan, T.A. Johns, K. Fu, and E.A. Shoubridge Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect Am. J. Hum. Genet. 66 2000 332 335
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 332-335
    • MacMillan, C.1    Johns, T.A.2    Fu, K.3    Shoubridge, E.A.4
  • 26
    • 0000869712 scopus 로고
    • Primary LHON mutations: Trying to separate "fruyt" from "chaf"
    • N. Howell Primary LHON mutations: trying to separate "fruyt" from "chaf" Clin. Neurosci. 2 1994 130 137
    • (1994) Clin. Neurosci. , vol.2 , pp. 130-137
    • Howell, N.1
  • 27
    • 0034676760 scopus 로고    scopus 로고
    • Increased risk of stroke in patients with the A12308G polymorphism in mitochondria
    • T. Pulkes, M.G. Sweeney, and M.G. Hanna Increased risk of stroke in patients with the A12308G polymorphism in mitochondria Lancet 356 2000 2068 2069
    • (2000) Lancet , vol.356 , pp. 2068-2069
    • Pulkes, T.1    Sweeney, M.G.2    Hanna, M.G.3
  • 30
    • 0037406049 scopus 로고    scopus 로고
    • Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
    • V. Carelli, C. Giordano, and G. d'Amati Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction Trends Genet. 19 2003 257 262
    • (2003) Trends Genet. , vol.19 , pp. 257-262
    • Carelli, V.1    Giordano, C.2    D'Amati, G.3
  • 31
    • 0031917201 scopus 로고    scopus 로고
    • Mitochondrial mutations and hearing loss: Paradigm for mitochondrial genetics
    • N. Fischel-Ghodsian Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics Am. J. Hum. Genet. 62 1998 15 19
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 15-19
    • Fischel-Ghodsian, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.