| Complex segmental duplications mediate a recurrent dup (X)(p11. 22-p11. 23) associated with mental retardation, speech delay, and EEG anomalies in males and females R Giorda, MC Bonaglia, S Beri, M Fichera, F Novara, P Magini, J Urquhart, ... The American Journal of Human Genetics 85 (3), 394-400, 2009 | 86 | 2009 |
| Randomized clinical trial of botulinum toxin injection for pain relief in patients with thrombosed external haemorrhoids R Patti, M Arcara, S Bonventre, S Sammartano, M Sparacello, G Vitello, ... Journal of British Surgery 95 (11), 1339-1343, 2008 | 47 | 2008 |
| 6p22. 3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies D Di Benedetto, G Di Vita, C Romano, ML Giudice, GA Vitello, M Zingale, ... Molecular cytogenetics 6, 1-5, 2013 | 31 | 2013 |
| The in cis T251I and P587L POLG1 base changes: description of a new family and literature review C Scuderi, E Borgione, F Castello, ML Giudice, S Santa Paola, ... Neuromuscular Disorders 25 (4), 333-339, 2015 | 22 | 2015 |
| Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations C Scuderi, M Fichera, G Calabrese, M Elia, C Amato, M Savio, E Borgione, ... Journal of Neurology, Neurosurgery & Psychiatry 80 (4), 440-443, 2009 | 16 | 2009 |
| Definition of the neurological phenotype associated with dup (X)(p11. 22–p11. 23) M Broli, F Bisulli, M Mastrangelo, E Fontana, I Fiocchi, C Zucca, ... Epileptic Disorders 13, 240-251, 2011 | 13 | 2011 |
| Definition of 5q11. 2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes C Snijders Blok, N Corsten‐Janssen, DR FitzPatrick, C Romano, ... American Journal of Medical Genetics Part A 164 (11), 2843-2848, 2014 | 12 | 2014 |
| Carrier screening for spinal muscular atrophy in Italian population F Cali, G Ruggeri, V Chiavetta, C Scuderi, S Bianca, C Barone, ... Journal of genetics 93 (1), 179-181, 2014 | 9 | 2014 |
| Novel c. C2254T (p. Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis M Vinci, M Fichera, SA Musumeci, F Cali, GA Vitello Journal of genetics 97 (5), 1469-1472, 2018 | 7 | 2018 |
| Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy A Musumeci, F Calì, C Scuderi, M Vinci, GA Vitello, SA Musumeci, ... Biomedicines 10 (9), 2276, 2022 | 6 | 2022 |
| Allelic variations in the human genes TMPRSS2 and CCR5, and the resistance to viral infection by SARS-CoV-2 GA Vitello, C Federico, F Bruno, M Vinci, A Musumeci, A Ragalmuto, ... International Journal of Molecular Sciences 23 (16), 2022 | 5 | 2022 |
| PHF21A Related Disorder: Description of a New Case A Butera, AG Nicotera, G Di Rosa, SA Musumeci, GA Vitello, A Musumeci, ... International Journal of Molecular Sciences 23 (24), 16130, 2022 | 4 | 2022 |
| Role of COMT V158M polymorphism in the development of dystonia after administration of antipsychotic drugs AG Nicotera, G Di Rosa, L Turriziani, MC Costanzo, E Stracuzzi, ... Brain Sciences 11 (10), 1293, 2021 | 4 | 2021 |
| Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic L Vetri, M Elia, GA Vitello, D Greco, C Gagliano, MC Costanzo, G Romeo, ... Perspectives in psychiatric care 57 (3), 1536, 2021 | 4 | 2021 |
| Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex C Scuderi, E Borgione, F Castello, ML Giudice, M Fichera, M Elia, ... Mitochondrion 10 (5), 548-554, 2010 | 2 | 2010 |
| Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability C Scuderi, S Santa Paola, ML Giudice, FD Di Blasi, S Giusto, G Di Vita, ... Research in Autism Spectrum Disorders 100, 102084, 2023 | 1 | 2023 |
| Identification of novel mutations in L1CAM gene by a DHPLC-based assay M Vinci, M Falco, L Castiglia, L Grillo, A Spalletta, M Sturnio, O Galesi, ... Genes & Genomics 38, 1159-1164, 2016 | 1 | 2016 |
| Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy M Vinci, GA Vitello, D Greco, S Treccarichi, A Ragalmuto, A Musumeci, ... Current Issues in Molecular Biology 46 (2), 1150-1163, 2024 | | 2024 |
| Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis M Pennisi, G Lanza, GA Vitello, DC Faro, F Fisicaro, F Cappellani, R Bella, ... Life 13 (12), 2305, 2023 | | 2023 |
| Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation GA Vitello, F Calì, M Vinci, C Scuderi, F L’Episcopo, A Musumeci, ... Journal of Musculoskeletal & Neuronal Interactions 20 (4), 610, 2020 | | 2020 |
