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Case report

First published 2025-7

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature

Laura S. Finn, Amy Goldstein, Holly L. Hedrick

Pediatric and Developmental Pathology

Open access

Research article

First published 2024-03

Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report

Noor Redha, Zahra Al-Sahlawi, Hasan Hasan [...]

Journal of Central Nervous System Disease

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Research article

First published 2013-10

The Role of Brain MRI in Mitochondrial Neurogastrointestinal Encephalomyopathy

Mauro Scarpelli, Giuseppe Kenneth Ricciardi, Alberto Beltramello [...]

The Neuroradiology Journal

Free access

Research article

First published 2018-5

Migraine in mitochondrial disorders: Prevalence and characteristics

Catello Vollono, Guido Primiano, Giacomo Della Marca [...]

Cephalalgia

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Research article

First published 2016-09

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

Javier Torres-Torronteras, Raquel Cabrera-Pérez, Ignasi Barba [...]

Human Gene Therapy

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Research article

First published 2019-08

Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy

Raquel Cabrera-Pérez, Ferran Vila-Julià, Michio Hirano [...]

Human Gene Therapy

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Research article

First published 2018-06

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

Javier Torres-Torronteras, Raquel Cabrera-Pérez, Ferran Vila-Julià [...]

Human Gene Therapy

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Research article

First published 2021-10

Preclinical Assessment of a Gene-Editing Approach in a Mouse Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

Marta Parés, Cristina Fornaguera, Ferran Vila-Julià [...]

Human Gene Therapy

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