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Open access

Case report

First published 2023-1-3

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report

Domenico Giannese, Vincenzo Montano, Piervito Lopriore [...]

Journal of Neuromuscular Diseases

Free access

Case report

First published 2022

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report

Vincenzo Montano, Michelangelo Mancuso, Costanza Simoncini [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2013

Evolutionary Modeling of Genotype-Phenotype Associations,and Application to primate coding and Non-coding mtDNA Rate Variation

Timothy D. O'Connor, Nicholas I. Mundy

Evolutionary Bioinformatics

Retricted access

Research article

First published 2020-08

Identification of Variants in Mitochondrial D-Loop and OriL Region and Analysis of Mitochondrial DNA Copy Number in Women with Polycystic Ovary Syndrome

Pallavi Shukla, Srabani Mukherjee, Anushree Patil

DNA and Cell Biology

Retricted access

Research article

First published 2012-03

Mitochondria DNA Polymorphisms Are Associated with Susceptibility to Endometriosis

SiHyun Cho, Young-Mock Lee, Young Sik Choi [...]

DNA and Cell Biology

Retricted access

Research article

First published 2018-11

Hemochromatosis ( HFE ) Gene Variants Are Associated with Increased Mitochondrial DNA Levels During HIV-1 Infection and Antiretroviral Therapy

Asha R. Kallianpur, Mariana Gerschenson, Todd Hulgan [...]

AIDS Research and Human Retroviruses

Open access

Research article

First published 2024-04-08

MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer’s Disease Sequencing Project

Congcong Zhu, Tong Tong, John J. Farrell [...]

Journal of Alzheimer's Disease Reports

Retricted access

Research article

First published 2020-08

Mitochondrial DNA Copy Number in Peripheral Blood Is Reduced in Type 2 Diabetes Patients with Polyneuropathy and Associated with a MIR499A Gene Polymorphism

Andrea Latini, Paola Borgiani, Giada De Benedittis [...]

DNA and Cell Biology

Retricted access

Research article

First published 2013-10

Mitochondrial DNA Variation and Changes in Adiponectin and Endothelial Function in HIV-Infected Adults After Antiretroviral Therapy Initiation

Todd Hulgan, James H. Stein, Bruno R. Cotter [...]

AIDS Research and Human Retroviruses

Retricted access

Review article

First published 2020-08

Interaction Between Mitochondrial DNA Variants and Mitochondria/Endoplasmic Reticulum Contact Sites: A Perspective Review

Caterina Vianello, Veronica Cocetta, Federico Caicci [...]

DNA and Cell Biology

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