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5 articles related to "Dna Deletions"

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Articles

Original Research

Published on 14 Jun 2019

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

in Genetics of Common and Rare Diseases

Lidia Carreño-Gago
Cora Blázquez-Bermejo
Jordi Díaz-Manera
Yolanda Cámara
Eduard Gallardo
Ramon Martí
Javier Torres-Torronteras
Elena García-Arumí

Frontiers in Genetics

doi 10.3389/fgene.2019.00576

5,551 views
12 citations

Case Report

Published on 08 Mar 2022

Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report

in Neuromuscular Disorders and Peripheral Neuropathies

Melanie Lang-Orsini
Paloma Gonzalez-Perez

Frontiers in Neurology

doi 10.3389/fneur.2022.846110

5,333 views
1 citation

Case Report

Published on 31 May 2022

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

in Genetics of Common and Rare Diseases

Arianna Manini
Leonardo Caporali
Megi Meneri
Simona Zanotti
Daniela Piga
Ignazio Giuseppe Arena
Stefania Corti
Antonio Toscano
Giacomo Pietro Comi
Olimpia Musumeci

Frontiers in Genetics

doi 10.3389/fgene.2022.906667

3,201 views
6 citations

Original Research

Published on 09 Apr 2025

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease

in Neuropharmacology

Jing Wang
James T. Peterson
Joaquim Diego D. Santos
Ada J. S. Chan
Maria Alejandra Diaz-Miranda
Imon Rahaman
Jean Flickinger
Amy Goldstein
Emily Bogush
Elizabeth M. McCormick

Frontiers in Pharmacology

doi 10.3389/fphar.2025.1507493

3,418 views

Original Research

Published on 16 May 2023

Trends of mitochondrial changes in AD: a bibliometric study

in Alzheimer's Disease and Related Dementias

Ruiyao Song
Yunchu Guo
Yu Fu
Hongling Ren
Hairong Wang
Hongting Yan
Yusong Ge

Frontiers in Aging Neuroscience

doi 10.3389/fnagi.2023.1136400

6,597 views
7 citations