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Frontiers in Neurology|June 19, 2023
Case report: Clinical and molecular characterization of two siblings affected by Brody myopathyDaniele Velardo, Sara Antognozzi, Martina Rimoldi, et al.Annals of Clinical and Translational Neurology|October 26, 2022
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosisArianna Manini, Delia Gagliardi, Megi Meneri, et al.Journal of Molecular Neuroscience : MN|January 10, 2015
Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotypeDario Ronchi, Stefano Carlo Previtali, Maria Grazia Natali Sora, et al.Annals of Neurology|March 19, 2026
High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral SclerosisDelia Gagliardi, Chiara Villella, Matteo Zanovello, et al.Respiratory Physiology & Neurobiology|March 19, 2013
Postural effects on lung and chest wall volumes in late onset type II glycogenosis patientsGauthier Remiche, Antonella Lo Mauro, Paolo Tarsia, et al.Frontiers in Genetics|April 22, 2025
A novel DNM2 variant associated with centronuclear myopathy: a case reportMartina Rimoldi, Daniele Velardo, Simona Zanotti, et al.Molecular Genetics and Metabolism|April 10, 2013
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemiaMarco Spada, Francesco Porta, Liliana Vercelli, et al.Journal of the Neurological Sciences|March 13, 2009
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological studyRoberta Virgilio, Dario Ronchi, Andreina Bordoni, et al.Orphanet Journal of Rare Diseases|June 18, 2023
SCARB1 downregulation in adrenal insufficiency with Allgrove syndromeGiacomo Bitetto, Gianluca Lopez, Dario Ronchi, et al.Journal of the Neurological Sciences|February 19, 2010
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairmentDario Ronchi, Roberta Virgilio, Andreina Bordoni, et al.Pageof 12