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
|
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
|
Howell, N; Mackey, D A (1998) Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 63:1220-4
|
Howell, N; Bogolin, C; Jamieson, R et al. (1998) mtDNA mutations that cause optic neuropathy: how do we know? Am J Hum Genet 62:196-202
|
Showing the most recent 10 out of 17 publications