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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.
Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|February 16, 2023
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop reportFabrizio Racca, Valeria A Sansone, Federica Ricci, et al.
Brain : a Journal of Neurology|November 5, 2024
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severityDomenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
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