Publications

Found 9 results
Filters: Keyword is Genetic Markers  [Clear All Filters]
2008
Cree LM, Samuels DC, Lopes SChuva de S, Rajasimha HKarur, Wonnapinij P, Mann JR, Dahl H-HM & Chinnery PF (2008) A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet 40, 249-54
2006
Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ & Chinnery PF (2006) POLG1 in idiopathic Parkinson disease. Neurology 67, 1698-700
2005
Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus M-L, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IFM, Smeets HJM & Chinnery PF (2005) Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 77, 1086-91
2004
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon J-M, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, A Santachiara-Benerecetti S, Semino O & Torroni A (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75, 910-8
1999
Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L & Suomalainen A (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65, 256-61
1997
Tiranti V, Savoia A, Forti F, D'Apolito MF, Centra M, Rocchi M & Zeviani M (1997) Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum Mol Genet 6, 615-25
1995
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H & Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9, 146-51
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P & Zeviani M (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-65
1994
Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M & Le Paslier D (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-7