|
Chinnery, P F; Brown, D T; Andrews, R M et al. (2001) The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 124:209-18
|
|
Chinnery, P F; Andrews, R M; Turnbull, D M et al. (2001) Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet 98:235-43
|
|
Howell, N; Ghosh, S S; Fahy, E et al. (2000) Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals. J Neurol Sci 172:6-Jan
|
|
Chinnery, P F; Howell, N; Andrews, R M et al. (1999) Clinical mitochondrial genetics. J Med Genet 36:425-36
|
|
Chinnery, P F; Howell, N; Andrews, R M et al. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity. J Med Genet 36:505-10
|
|
Chinnery, P F; Zwijnenburg, P J; Walker, M et al. (1999) Nonrandom tissue distribution of mutant mtDNA. Am J Med Genet 85:498-501
|
|
Howell, N (1999) Human mitochondrial diseases: answering questions and questioning answers. Int Rev Cytol 186:49-116
|
|
Howell, N (1998) Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. Vision Res 38:1495-504
|
|
Chinnery, P F; Howell, N; Lightowlers, R N et al. (1998) MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 121 ( Pt 10):1889-94
|
|
Chinnery, P F; Howell, N; Lightowlers, R N et al. (1998) Genetic counseling and prenatal diagnosis for mtDNA disease. Am J Hum Genet 63:1908-11
|
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