Works matching AU Naini, Ali B.

Results: 15

Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 581, doi. 10.3109/21678421.2014.907319

By:

Kariya, Shingo;
Sampson, Jacinda B.;
Northrop, Lesley E.;
Luccarelli, Christopher M.;
Naini, Ali B.;
Re, Diane B.;
Hirano, Michio;
Mitsumoto, Hiroshi

Publication type:

Article

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

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203198

By:

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

Publication type:

Article

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

Published in:

Critical Care, 2011, v. 15, n. 4, p. 1, doi. 10.1186/cc10343

By:

Donnino, Michael W.;
Cocchi, Michael N.;
Salciccioli, Justin D.;
Kim, Daniel;
Naini, Ali B.;
Buettner, Catherine;
Akuthota, Praveen

Publication type:

Article

Peripheral and central pharmacokinetics of apomorphine and its effect on dopamine metabolism in humans.

Published in:

Movement Disorders, 1995, v. 10, n. 1, p. 28, doi. 10.1002/mds.870100107

By:

Przedborski, Serge;
Levivier, Marc;
Raftopoulos, Christian;
Naini, Ali B.;
Hildebrand, Jerzy

Publication type:

Article

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

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13026-2

By:

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

Publication type:

Article

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ<sub>10</sub> deficiency.

Published in:

FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728

By:

Quinzii, Catarina M.;
López, Luis C.;
Gilkerson, Robert W.;
Dora, Beatriz;
Coku, Jorida;
Naini, Ali B.;
Lagier-Tourenne, Clotilde;
Schuelke, Markus;
Salviati, Leonardo;
Carrozzo, Rosalba;
Santorelli, Filippo;
Rahman, Shamima;
Tazir, Meriem;
Koenig, Michel;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Preoperative and postoperative levels of plasma protein and amino acid in esophageal and lung cancer patients.

Published in:

1988

By:

Naini, Ali B.;
Dickerson, John W. T.;
Brown, Meredith M.;
Naini, A B;
Dickerson, J W;
Brown, M M

Publication type:

journal article

Mitochondrial DNA depletion and dGK gene mutations.

Published in:

2002

By:

Salviati, Leonardo;
Sacconi, Sabrina;
Mancuso, Michelangelo;
Otaegui, David;
Camaño, Pilar;
Marina, Alberto;
Rabinowitz, Simon;
Shiffman, Rebecca;
Thompson, Karen;
Wilson, Claire M.;
Feigenbaum, Annette;
Naini, Ali B.;
Hirano, Michio;
Bonilla, Eduardo;
DiMauro, Salvatore;
Vu, Tuan H.;
Camaño, Pilar

Publication type:

journal article

Chronic levodopa administration alters cerebral mitochondrial respiratory chain activity.

Published in:

Annals of Neurology, 1993, v. 34, n. 5, p. 715, doi. 10.1002/ana.410340515

By:

Przedborski, Serge;
Jackson-Lewis, Vernice;
Muthane, Uday;
Jiang, Hong;
Ferreira, Mayra;
Naini, Ali B.;
Fahn, Stanley

Publication type:

Article

A novel POLG gene mutation in a patient with SANDO.

Published in:

Journal of Experimental & Integrative Medicine, 2012, v. 2, n. 2, p. 181, doi. 10.5455/jeim.200312.cr.001

By:

Kurt, Bulent;
Naini, Ali B.;
Copeland, William C.;
Jiesheng Lu;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Published in:

Muscle & Nerve, 2014, v. 50, n. 2, p. 292, doi. 10.1002/mus.24262

By:

Peverelli, Lorenzo;
Gold, Carl A.;
Naini, Ali B.;
Tanji, Kurenai;
Akman, H. Orhan;
Hirano, Michio;
Dimauro, Salvatore

Publication type:

Article

Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical Guidelines.

Published in:

Movement Disorders, 2023, v. 38, n. 12, p. 2151, doi. 10.1002/mds.29650

By:

Goldman, Jill S.;
Uhlmann, Wendy R.;
Naini, Ali B.;
Klitzman, Robert L.;
Marder, Karen S.

Publication type:

Article

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

Published in:

2020

By:

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.;
de Carvalho, Jose Ronaldo Lima Jr

Publication type:

journal article

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

Published in:

2021

By:

Kurtz, Justin;
Fernandes Jr, Joseph Americo;
Mansukhani, Mahesh;
Copeland, William C.;
Naini, Ali B.

Publication type:

Case Study

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

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173

By:

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

Publication type:

Article