Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

por Kurtz, Justin, Fernandes, Joseph Americo, Mansukhani, Mahesh, Copeland, William C., Naini, Ali B.
Publicado 2021

Coenzyme Q10 levels are low and may be associated with the inflammatory cascade in septic shock

por Donnino, Michael W, Cocchi, Michael N, Salciccioli, Justin D, Kim, Daniel, Naini, Ali B, Buettner, Catherine, Akuthota, Praveen
Publicado 2011

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ(10) deficiency

por Sondheimer, Neal, Hewson, Stacy, Cameron, Jessie M., Somers, Gino R., Broadbent, Jane Dunning, Ziosi, Marcello, Quinzii, Catarina Maria, Naini, Ali B.
Publicado 2017

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

por Thomas-Wilson, Amanda, Dharmadhikari, Avinash V., Heymann, Jonas J., Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B., Ganapathi, Mythily
Publicado 2022

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

por Hoff, Kirsten E., DeBalsi, Karen L., Sanchez-Quintero, Maria J., Longley, Matthew J., Hirano, Michio, Naini, Ali B., Copeland, William C.
Publicado 2018

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

por Ganapathi, Mythily, Thomas-Wilson, Amanda, Buchovecky, Christie, Dharmadhikari, Avinash, Barua, Subit, Lee, Winston, Ruan, Merry Z. C., Soucy, Megan, Ragi, Sara, Tanaka, Joy, Clark, Lorraine N., Naini, Ali B., Liao, Jun, Mansukhani, Mahesh, Tsang, Stephen, Jobanputra, Vaidehi
Publicado 2022

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

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