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Nature Communications|December 21, 2025
Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoidsIrene Faravelli, Paola Rinchetti, Monica Tambalo, et al.Plos One|October 30, 2015
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated CardiomyopathyAndrea Barp, Luca Bello, Luisa Politano, et al.Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2015
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk populationO Musumeci, G la Marca, M Spada, et al.Journal of Neurology|August 18, 2022
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohortV Montano, P Lopriore, F Gruosso, et al.Plos One|June 26, 2019
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratti, Marika Pane, et al.Molecular Neurodegeneration|August 17, 2022
Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson's diseaseGiulietta Maria Riboldi, Ricardo A Vialle, Elisa Navarro, et al.Plos One|August 1, 2019
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53Claudia Brogna, Giorgia Coratt, Marika Pane, et al.Stem Cell Reports|October 23, 2018
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System AtrophyGiacomo Monzio Compagnoni, Giulio Kleiner, Maura Samarani, et al.Neurobiology of Aging|July 7, 2012
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effectAntonia Ratti, Lucia Corrado, Barbara Castellotti, et al.Pageof 35