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American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Brain : a Journal of Neurology|April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signatureFatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.
European Journal of Neurology|March 23, 2022
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseasesKatina Aleksovska, Teia Kobulashvili, Joao Costa, et al.
Neurology|December 16, 2016
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutationsChunyan Liao, Neil Ashley, Alan Diot, et al.
Neurology|June 2, 2023
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical TrialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Orphanet Journal of Rare Diseases|November 22, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trialAmel Karaa, Enrico Bertini, Valerio Carelli, et al.
Journal of Clinical Medicine|June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial DiseasesChiara Ticci, Daniele Orsucci, Anna Ardissone, et al.
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