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Annals of Neurology|May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome SpectrumElizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.Journal of Pediatric Gastroenterology and Nutrition|August 3, 2016
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver FailurePatrick McKiernan, Sarah Ball, Saikat Santra, et al.Journal of the Neurological Sciences|June 22, 2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegiaDario Ronchi, Elisa Fassone, Andreina Bordoni, et al.Journal of Neurology|October 1, 2014
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?Olimpia Musumeci, Stefen Brady, Carmelo Rodolico, et al.Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.Biochemical and Biophysical Research Communications|August 9, 2011
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutationDario Ronchi, Andreina Bordoni, Alessandra Cosi, et al.Archives of Neurology|July 14, 2010
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosisVeronica Crugnola, Costanza Lamperti, Valeria Lucchini, et al.Epilepsia|June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implicationsOmar Hikmat, Karin Naess, Martin Engvall, et al.Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.Pageof 17