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Orphanet Journal of Rare Diseases|September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.Plos One|January 18, 2013
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophyElena Stacy Mazzone, Marika Pane, Maria Pia Sormani, et al.Journal of Medical Genetics|June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric studySara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.Journal of Medical Genetics|October 22, 2021
<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.Neuromuscular Disorders : NMD|August 8, 2015
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb testMarika Pane, Lavinia Fanelli, Elena Stacy Mazzone, et al.Neurology|June 30, 2012
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyLuca Bello, Luisa Piva, Andrea Barp, et al.Plos One|June 21, 2018
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal dataMarika Pane, Giorgia Coratti, Claudia Brogna, et al.Journal of Clinical Medicine|May 28, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewJessica Garau, Vanessa Cavallera, Marialuisa Valente, et al.Plos One|March 17, 2016
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational StudyElena S Mazzone, Giorgia Coratti, Maria Pia Sormani, et al.Pageof 23