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Deficiency of respiratory chain complex I is a common cause of Leigh disease.
Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, Harding AE, Lake BD, Harding BN, Farrell MA, Bell JE, Mirakhur M, Turnbull DM. Morris AA, et al. Ann Neurol. 1996 Jul;40(1):25-30. doi: 10.1002/ana.410400107. Ann Neurol. 1996. PMID: 8687187
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM. Taylor RW, et al. Ann Neurol. 1996 Sep;40(3):459-62. doi: 10.1002/ana.410400318. Ann Neurol. 1996. PMID: 8797538
Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.
Taylor RW, Birch-Machin MA, Schaefer J, Taylor L, Shakir R, Ackrell BA, Cochran B, Bindoff LA, Jackson MJ, Griffiths P, Turnbull DM. Taylor RW, et al. Ann Neurol. 1996 Feb;39(2):224-32. doi: 10.1002/ana.410390212. Ann Neurol. 1996. PMID: 8967754
Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.
Bidooki SK, Johnson MA, Chrzanowska-Lightowlers Z, Bindoff LA, Lightowlers RN. Bidooki SK, et al. Am J Hum Genet. 1997 Jun;60(6):1430-8. doi: 10.1086/515460. Am J Hum Genet. 1997. PMID: 9199564 Free PMC article.
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T. Tiranti V, et al. Ann Neurol. 1999 Aug;46(2):161-6. doi: 10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o. Ann Neurol. 1999. PMID: 10443880
The epidemiology of pathogenic mitochondrial DNA mutations.
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. Chinnery PF, et al. Ann Neurol. 2000 Aug;48(2):188-93. Ann Neurol. 2000. PMID: 10939569
Cystic dilation of Virchow-Robin spaces in the midbrain.
Romi F, Tysnes OB, KrÄkenes J, Savoiardo M, Aarli JA, Bindoff L. Romi F, et al. Eur Neurol. 2002;47(3):186-8. doi: 10.1159/000047982. Eur Neurol. 2002. PMID: 11914561 No abstract available.
[The genetic basis of muscle disease].
Bindoff L, Gilhus NE. Bindoff L, et al. Tidsskr Nor Laegeforen. 2003 Sep 25;123(18):2588-92. Tidsskr Nor Laegeforen. 2003. PMID: 14714051 Review. Norwegian.
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