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Seizure|October 22, 2011
Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic studyDuccio Maria Cordelli, Anna Aldrovandi, Valentina Gentile, et al.
Archives of Neurology|September 12, 2012
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA DeletionsCaterina Garone, Juan Carlos Rubio, Sarah E Calvo, et al.
JAMA Neurology|July 10, 2013
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9Caterina Garone, Maria Alice Donati, Michele Sacchini, et al.
Nature Medicine|July 27, 2010
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathyCarlo Viscomi, Alberto B Burlina, Imad Dweikat, et al.
Cell Death & Disease|December 26, 2025
Model organisms in POLG-related disorders: insights from yeast to multicellular systemsRaquel Brañas Casas, Giovanni Risato, Alessandro Zuppardo, et al.
Cell Reports. Medicine|June 2, 2026
Emerging therapeutic strategies for mitochondrial DNA-related diseasesRubing Shi, Micol Falabella, Jana Aref, et al.
The Journal of Physiology|April 19, 2003
Heteromeric HCN1-HCN4 channels: a comparison with native pacemaker channels from the rabbit sinoatrial nodeClaudia Altomare, Benedetta Terragni, Chiara Brioschi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 21, 2020
Opa1 Overexpression Protects from Early-Onset Mpv17-/--Related Mouse Kidney DiseaseMarta Luna-Sanchez, Cristiane Benincá, Raffaele Cerutti, et al.
Proteomics|February 13, 2016
Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiencyNavid Sahebekhtiari, Michelle M Thomsen, Jens J Sloth, et al.
EMBO Molecular Medicine|June 28, 2014
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiencyCaterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, et al.
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