North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy E Mazzone, D Martinelli, A Berardinelli, S Messina, A D’Amico, G Vasco, ... Neuromuscular Disorders 20 (11), 712-716, 2010 | 243 | 2010 |
Reliability of the North Star Ambulatory Assessment in a multicentric setting ES Mazzone, S Messina, G Vasco, M Main, M Eagle, A D’Amico, L Doglio, ... Neuromuscular Disorders 19 (7), 458-461, 2009 | 235 | 2009 |
Functional changes in Duchenne muscular dystrophy: A 24 month longitudinal cohort study ES Mazzone, M Pane, R Scalise, MP Sormani, Y Torrente, A Berardinelli, ... NEUROMUSCULAR DISORDERS 22 (9-10), 876-876, 2012 | 229 | 2012 |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study E Mercuri, S Messina, C Bruno, M Mora, E Pegoraro, GP Comi, A D'Amico, ... Neurology 72 (21), 1802-1809, 2009 | 191 | 2009 |
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation M Pane, ME Lombardo, P Alfieri, A D'Amico, F Bianco, G Vasco, G Piccini, ... The Journal of pediatrics 161 (4), 705-709. e1, 2012 | 172 | 2012 |
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine E Mercuri, E Clements, A Offiah, A Pichiecchio, G Vasco, F Bianco, ... Annals of Neurology: Official Journal of the American Neurological …, 2010 | 163 | 2010 |
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy ES Mazzone, M Pane, MP Sormani, R Scalise, A Berardinelli, S Messina, ... PloS one 8 (1), e52512, 2013 | 144 | 2013 |
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy L Bello, L Piva, A Barp, A Taglia, E Picillo, G Vasco, M Pane, SC Previtali, ... Neurology, WNL. 0b013e31825f04ea, 2012 | 96 | 2012 |
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy ES Mazzone, G Vasco, C Palermo, F Bianco, C Galluccio, V Ricotti, ... Developmental Medicine & Child Neurology 54 (10), 879-885, 2012 | 95 | 2012 |
The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia P La Rosa, S Petrillo, R Turchi, F Berardinelli, T Schirinzi, G Vasco, ... Redox biology 38, 101791, 2021 | 92 | 2021 |
Assessing upper limb function in nonambulant SMA patients: development of a new module E Mazzone, F Bianco, D Martinelli, AM Glanzman, S Messina, ... Neuromuscular Disorders 21 (6), 406-412, 2011 | 92 | 2011 |
The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria G Marangi, S Ricciardi, D Orteschi, S Lattante, M Murdolo, B Dallapiccola, ... American Journal of Medical Genetics Part A 155 (7), 1536-1545, 2011 | 76 | 2011 |
Phenomenology and clinical course of movement disorder in GNAO1 variants: results from an analytical review T Schirinzi, G Garone, L Travaglini, G Vasco, S Galosi, L Rios, ... Parkinsonism & Related Disorders 61, 19-25, 2019 | 67 | 2019 |
Nrf2-inducers counteract neurodegeneration in frataxin-silenced motor neurons: disclosing new therapeutic targets for Friedreich’s ataxia S Petrillo, E Piermarini, A Pastore, G Vasco, T Schirinzi, R Carrozzo, ... International journal of molecular sciences 18 (10), 2173, 2017 | 66 | 2017 |
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study K Reetz, I Dogan, RD Hilgers, P Giunti, MH Parkinson, C Mariotti, ... The Lancet Neurology 20 (5), 362-372, 2021 | 63 | 2021 |
Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients A Traschütz, T Schirinzi, L Laugwitz, NH Murray, CA Bingman, S Reich, ... Annals of neurology 88 (2), 251-263, 2020 | 59 | 2020 |
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes L Travaglini, C Aiello, F Stregapede, A D’Amico, V Alesi, A Ciolfi, ... neurogenetics, 1-11, 2018 | 59 | 2018 |
Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich’s Ataxia: an observational study M Germanotta, G Vasco, M Petrarca, S Rossi, S Carniel, E Bertini, ... Journal of neuroengineering and rehabilitation 12, 1-13, 2015 | 56 | 2015 |
Visual function in infants with non‐syndromic craniosynostosis D Ricci, G Vasco, G Baranello, A Salerni, R Amante, G Tamburrini, ... Developmental Medicine & Child Neurology 49 (8), 574-576, 2007 | 54 | 2007 |
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study FD Tiziano, R Lomastro, L Di Pietro, MB Pasanisi, S Fiori, C Angelozzi, ... European Journal of Human Genetics 21 (6), 630, 2013 | 44 | 2013 |