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Research article

First published 2024-01-02

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity

Charlie Saunders, Cheryl Longman, Grainne Gorman [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2010-5

Craniofacial Morphology in Children of Mothers with the m.3243A>G Mutation in Mitochondrial DNA

Taija L. Pihlajaniemi, Pertti Pirttiniemi, Johanna Uusimaa [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2020-03

A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories

Bengisu Kevser Bulduk, Hasan Basri Kiliç, Can Ebru Bekircan-Kurt [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2022-10

Modeling Mitochondrial Encephalomyopathy,Lactic Acidosis,and Stroke-Like Episodes Syndrome Using Patient-Derived Induced Neurons Generated by Direct Reprogramming

Suleva Povea-Cabello, Marina Villanueva-Paz, Irene Villalón-García [...]

Cellular Reprogramming

Free access

Research article

First published 2016-8-30

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

Marina Bartsakoulia, Juliane S. Mϋller, Aurora Gomez-Duran [...]

Journal of Neuromuscular Diseases

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Review article

First published 2015-9

Monogenic diabetes and pregnancy

Rinki Murphy

Obstetric Medicine

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

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Case report

First published 2022-1

Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy,Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report

Ghalia Al Yazidi, Jaap Mulder, Christoph Licht [...]

The Neurohospitalist

Free access

Review article

First published

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

Jane Newman, Brook Galna, Djordje G. Jakovljevic [...]

Journal of Neuromuscular Diseases

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