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Human Molecular Genetics|October 11, 2019
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove SyndromeGiacomo Bitetto, Dario Ronchi, Sara Bonato, et al.Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|June 6, 2026
Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotoniaAnthony Frosio, Serena Calamaio, Serena Pagliarani, et al.European Journal of Human Genetics : EJHG|December 23, 2011
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairmentDario Ronchi, Monica Sciacco, Andreina Bordoni, et al.Neurobiology of Aging|December 6, 2011
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosisCinzia Tiloca, Antonia Ratti, Viviana Pensato, et al.American Journal of Human Genetics|December 13, 2006
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTuLucia Valente, Valeria Tiranti, Rene Massimiliano Marsano, et al.European Journal of Neurology|November 27, 2019
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophyV Galimberti, R Tironi, A Lerario, et al.Molecular Genetics and Metabolism Reports|June 27, 2022
A novel <i>RRM2B</i> mutation associated with mitochondrial DNA depletion syndromeMonica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, et al.Neurology|October 22, 1998
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndromeA Papadimitriou, G P Comi, G M Hadjigeorgiou, et al.Muscle & Nerve|May 15, 2012
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapyCorrado Angelini, Claudio Semplicini, Sabrina Ravaglia, 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.Pageof 35