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European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.Communications Biology|January 12, 2023
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseasesGabriel Sturm, Kalpita R Karan, Anna S Monzel, et al.Communications Medicine|August 1, 2025
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line modelsFangfang Zhang, Tatjana Dorn, Barbara Gnutti, et al.European Journal of Human Genetics : EJHG|May 30, 2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneJohanna Uusimaa, Julie Evans, Conrad Smith, et al.Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.The Journal of Clinical Endocrinology and Metabolism|September 8, 2022
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic InsightsElena J Tucker, Megan J Baker, Daniella H Hock, et al.Nature Genetics|February 28, 2002
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancerIan P M Tomlinson, N Afrina Alam, Andrew J Rowan, et al.Molecular Genetics and Metabolism|February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial diseaseOliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.Pageof 17