Publications

Found 4 results
Filters: Keyword is Mothers  [Clear All Filters]
2012
Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I & Zeviani M (2012) Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet 90, 1079-87
2009
Ong KK, Elks CE, Li S, Zhao JHua, Luan J'an, Andersen LB, Bingham SA, Brage S, Smith GDavey, Ekelund U, Gillson CJ, Glaser B, Golding J, Hardy R, Khaw K-T, Kuh D, Luben R, Marcus M, McGeehin MA, Ness AR, Northstone K, Ring SM, Rubin C, Sims MA, Song K, Strachan DP, Vollenweider P, Waeber G, Waterworth DM, Wong A, Deloukas P, Barroso I, Mooser V, Loos RJ & Wareham NJ (2009) Genetic variation in LIN28B is associated with the timing of puberty. Nat Genet 41, 729-33
1995
Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C & Zeviani M (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 4, 1421-7
1991
Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V & DiDonato S (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 338, 143-7