Sage Journals: Discover world-class research

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Research article

First published 2011-4

Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association

A. Vidal, M. Castillo

The Neuroradiology Journal

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Research article

First published 2007-11

Single-cell A3243G Mitochondrial DNA Mutation Load Assays for Segregation Analysis

Roshan S. Jahangir Tafrechi, Frans M. van de Rijke, Amin Allallou [...]

Journal of Histochemistry & Cytochemistry

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Research article

First published 2013-05

Audiologic and Genetic Features of the A3243G mtDNA Mutation

Richard J. Vivero, Xiaomei Ouyang, Yeunjung Grant Kim [...]

Genetic Testing and Molecular Biomarkers

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Other

First published 2006-01

A Boy With Muscle Weakness,Hypercarbia,and the Mitochondrial DNA A3243G Mutation

Russell P. Saneto, Anthony Bouldin

Journal of Child Neurology

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Other

First published 2009-12

MELAS With A3243G Mutation Presenting With Occipital Status Epilepticus

Shefali Karkare, Sabiha Merchant, Gail Solomon [...]

Journal of Child Neurology

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Research article

First published 2014-9

Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy,Lactic Acidosis,and Strokelike Episodes–Associated Mitochondrial DNA A3243G Mutation

Scott T. Demarest, Matthew T. Whitehead, Sinan Turnacioglu [...]

Journal of Child Neurology

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Research article

First published 2025-08

Impact of Mitochondrial A3243G Mutation on Skeletal Muscle Energy Metabolism: Evidence from Human Induced Pluripotent Stem Cell-Derived Skeletal Muscle Cells

Ritsuko Oikawa, Kenichi Yokota, Junji Fujikura [...]

Stem Cells and Development

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Research article

First published 2012-04

Large-Scale Screening of Mitochondrial DNA Mutations Among Iranian Patients with Prelingual Nonsyndromic Hearing Impairment

Mostafa Montazer Zohour, Mohammad Amin Tabatabaiefar, Fatemeh Azadegan Dehkordi [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2010-02

Prevalence of Mitochondrial tRNA Gene Mutations and Their Association with Specific Clinical Phenotypes in Patients with Type 2 Diabetes Mellitus of Coimbatore

Pradeepa Duraisamy, Santhini Elango, Vijaya Padma Vishwanandha [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2005-09

Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing

Helen E. White, Victoria J. Durston, Anneke Seller [...]

Genetic Testing and Molecular Biomarkers

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