Publications by authors named "Ali Naini"

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Phase I Randomized, Placebo-Controlled, Cross-Over Dose-Finding Study of Coenzyme Q10 on Doxorubicin Pharmacokinetics during Breast Cancer Treatment.
Heather Greenlee, Katherine D Crew, Matthew Maurer, Kevin Kalinsky, Serge Cremers, Ali Naini

Integr Cancer Ther· November 2025

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Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected children.
Greg S Gojanovich, Carmen J Marsit, Deborah Kacanek, Jonathan Russell, Gavin Hudson, Ali B Naini

Mitochondrion· November 2024

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Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.
Nan Jiang, Wenyuan Xu, Aliaa Abdelhakim, Anastasiya Matveyenko, Matthias Szabolcs, Ali Naini

Eur J Med Genet· October 2024

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Genetic Testing of HTT Modifiers for Huntington's Disease: Considerations for Clinical Guidelines.
Jill S Goldman, Wendy R Uhlmann, Ali B Naini, Robert L Klitzman, Karen S Marder

Mov Disord· December 2023

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Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Ali B Naini

Sci Rep· June 2022

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Whole-exome sequencing detects variants in two adults with McArdle disease.
Amanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, Vaidehi Jobanputra, Salvatore DiMauro, Ali B Naini

Cold Spring Harb Mol Case Stud· February 2022

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Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.
Justin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, William C Copeland, Ali B Naini

Case Rep Genet· November 2021

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Detection of mitochondrial DNA (mtDNA) mutations.
Ali Naini, Robert Gilkerson, Sara Shanske, Jiuhong Pang

Methods Cell Biol· December 2020

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Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Aliaa H Abdelhakim, Avinash V Dharmadhikari, Sara D Ragi, Jose Ronaldo Lima de Carvalho, Christine L Xu, Ali B Naini

Orphanet J Rare Dis· November 2020

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Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
Jill Goldman, Shanghong Xie, Dina Green, Ali Naini, Mahesh M Mansukhani

J Genet Couns· October 2020

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Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.
Andres Berardo, Valentina Emmanuele, Wendy Vargas, Kurenai Tanji, Ali Naini

J Neurol· March 2020

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Letter to Editor regarding "preoperative liver shrinking diet for bariatric surgery may impact wound healing: A randomized controlled trial".
Saeed Shoar, Ali Alavi Naini, Essa M Aleassa, Mohammad Naderan, Habibollah Mahmoodzadeh

Surg Obes Relat Dis· April 2019

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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Kirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, Matthew J Longley, Michio Hirano, Ali B Naini

PLoS One· February 2019

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Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency.
Neal Sondheimer, Stacy Hewson, Jessie M Cameron, Gino R Somers, Jane Dunning Broadbent, Ali B Naini

Mol Genet Metab Rep· September 2017

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A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini

J Child Neurol· February 2017

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Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Hemant Varma, Phyllis L Faust, Alejandro D Iglesias, Stephen M Lagana, Karen Wou, Ali B Naini

Eur J Med Genet· October 2016

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Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.
Roa Sadat, Emanuele Barca, Ruchi Masand, Taraka R Donti, Ali Naini

Mol Genet Metab· May 2016

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A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children.
Yasemin Gulcan Kurt, Jorida Çoku, H Orhan Akman, Ali Naini, Jesheng Lu

Child Neurol Open· April 2016

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Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Beatriz Garcia-Diaz, Emanuele Barca, Andrea Balreira, Luis C Lopez, Saba Tadesse, Ali Naini

Hum Mol Genet· August 2015

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Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS.
Shingo Kariya, Jacinda B Sampson, Lesley E Northrop, Christopher M Luccarelli, Ali B Naini

Amyotroph Lateral Scler Frontotemporal Degener· December 2014

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ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Andrea Balreira, Veronika Boczonadi, Emanuele Barca, Angela Pyle, Boglarka Bansagi, Ali Naini

J Neurol· November 2014

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Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
Lorenzo Peverelli, Carl A Gold, Ali B Naini, Kurenai Tanji, H Orhan Akman

Muscle Nerve· August 2014

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Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?
Nicole Holuba Lamarca, Lauren Golden, Rita Marie John, Ali Naini, Darryl C De Vivo

J Child Neurol· November 2013

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Cerebellar Ataxia and Deficiency.
Catarina M Quinzii, Michio Hirano, Ali Naini

J Neurol Disord Stroke· January 2013

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MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.
Caterina Garone, Juan Carlos Rubio, Sarah E Calvo, Ali Naini, Kurenai Tanji

Arch Neurol· December 2012

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