Author: DiMauro, Salvatore | Search Results | Academic Commons

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1. A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck

: Pallotti, Francesco; Binelli, Giorgio; Fabbri, Raffaella; Valentino, Maria L.; Vicenti, Rossella; Macciocca, Maria; Cevoli, Sabina; Baruzzi, Agostino; DiMauro, Salvatore; Carelli, Valerio
: 2014
: Articles
: OvumMuscles--DiseasesMusculoskeletal systemEpitheliumMitochondrial DNAGenetics

2. Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy

: Vernau, Karen M.; Runstadler , Jonathan A.; Brown, Emily A.; Cameron, Jessie M.; Huson, Heather J.; Higgins, Robert J.; Ackerley, Cameron; Sturges, Beverly K.; Dickinson, Peter J.; Puschner, Birgit; Giulivi, Cecilia; Shelton, G. Diane; Robinson, Brian H.; DiMauro, Salvatore; Bollen, Andrew W.; Bannasch, Danika L.
: 2013
: Articles
: GeneticsPathologyEpidemiologyNeurosciences

3. Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

: Casarin, Alberto; Giorgi, Gianpietro; Pertegato, Vanessa; Siviero, Roberta; Cerqua, Cristina; Doimo, Mara; Basso, Giuseppe; Sacconi, Sabrina; Cassina, Matteo; Rizzuto, Rosario; Brosel, Sonja; Davidson, Mercy M.; DiMauro, Salvatore; Schon, Eric; Clementi, Maurizio; Trevisson, Eva; Salviati, Leonardo
: 2012
: Articles
: Copper--MetabolismAntilipemic agentsTherapeutics--ResearchCytochrome oxidaseMedicinePathology