The function of the Administrative Core is to integrate the administrative and scientific activities of the Program Project, thus relating directly to the communal needs of the four individual projects as well as that of the Technical Core (Core B). The professional personnel of the Core include Dr. Salvatore DiMauro (Program Director) and Dr. Michio Hirano (Program Co-Director), Ms. Wendy Goldberg (Research Operations Manager), and a Junior Accountant (Ms. Iris Robles-Rivera). The core will provide direction, coordination, external consultation, and ensure data storage and sharing of data and resources.
Wang, Dan; Li, Jia; Song, Chun-Qing et al. (2018) Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice. Nat Biotechnol 36:839-842 |
Hirano, Michio; Emmanuele, Valentina; Quinzii, Catarina M (2018) Emerging therapies for mitochondrial diseases. Essays Biochem 62:467-481 |
Raghavan, Neha S; Brickman, Adam M; Andrews, Howard et al. (2018) Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol 5:832-842 |
Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth et al. (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-3312 |
Garone, Caterina; Taylor, Robert W; Nascimento, Andrés et al. (2018) Retrospective natural history of thymidine kinase 2 deficiency. J Med Genet 55:515-521 |
Kleiner, Giulio; Barca, Emanuele; Ziosi, Marcello et al. (2018) CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway. Biochim Biophys Acta Mol Basis Dis 1864:3708-3722 |
Siegmund, Stephanie E; Grassucci, Robert; Carter, Stephen D et al. (2018) Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography. iScience 6:83-91 |
Winawer, Melodie R; Griffin, Nicole G; Samanamud, Jorge et al. (2018) Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83:1133-1146 |
Pera, Marta; Larrea, Delfina; Guardia-Laguarta, Cristina et al. (2017) Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease. EMBO J 36:3356-3371 |
Quinzii, Catarina M; Luna-Sanchez, Marta; Ziosi, Marcello et al. (2017) The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency. Front Physiol 8:525 |
Showing the most recent 10 out of 51 publications