Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

by Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Published 2017-09-01

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

by Kirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, Matthew J Longley, Michio Hirano, Ali B Naini, William C Copeland
Published 2018-01-01

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

by Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Published 2020-11-01