" Recurrent Hopkin's syndrome: A case report and review of the literature": Erratum. P Pavone, MR Longo, F Scalia, R Polosa, J Kira, R Falsaperla Elsevier Science, 2011 | | 2011 |
4q interstitial and terminal deletion: clinical features comparison in two unrelated children. P Pavone, XG Pappalardo, R Lubrano, S Savasta, A Verrotti, P Parisi, ... AIMS Medical Science 10 (2), 130-140, 2023 | | 2023 |
7q31. 32 Partial Duplication: first report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review P Pavone, G Corsello, SD Marino, M Ruggieri, R Falsaperla Epilepsy research, 106223, 2019 | 5 | 2019 |
8000 special: quesiti a 5 risposte sugli obiettivi didattici teorici previsti dalla tabella 18 (DM 10/07/1996) per i concorsi di ammissione a: Scuole di Specializzazione, Corso … S Pedulla, T Sciacca, R Falsaperla UNIMED, 1998 | | 1998 |
A case of COVID-19 with late-onset rash and transient loss of taste and smell in a 15-year-old boy A Maniaci, G Iannella, C Vicini, P Pavone, G Nunnari, R Falsaperla, ... The American journal of case reports 21, e925813-1, 2020 | 49 | 2020 |
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment P Pavone, AD Praticò, R Rizzo, G Corsello, M Ruggieri, E Parano, ... Medicine 96 (26), e6814, 2017 | 82 | 2017 |
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases E Parano, A Fiumara, R Falsaperla, L Pavone Brain and Development 16 (2), 104-107, 1994 | 14 | 1994 |
A critical appraisal of neurological evidence on paediatric COVID-19 patients. A systematic literature review R Falsaperla, C Gulisano, L Portale, A Maccarrone, M Ruggieri Heliyon 9 (5), 2023 | 3 | 2023 |
A girl with a 14.7 Mb 3q26. 32–q28 duplication: a new report of 3q duplication syndrome and a literature review P Pavone, AD Praticò, R Falsaperla, M Ruggieri, G Neri, V Pavone, ... Clinical Dysmorphology 25 (3), 121-127, 2016 | 2 | 2016 |
A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia P Pavone, R Falsaperla, A Polizzi Journal of Integrative Neuroscience 23 (6), 115, 2024 | | 2024 |
A mild phenotype associated with a de novo microdeletion 10q23. 1-q23. 2: a new patient with a novel feature P Pavone, AD Praticò, C Campisi, R Falsaperla Case Reports 2016, bcr2016214388, 2016 | 1 | 2016 |
A neurocutaneous phenotype with paired hypo-and hyperpigmented macules, microcephaly and stunted growth as prominent features P Pavone, AD Praticò, G Gentile, R Falsaperla, R Iemmolo, M Guarnaccia, ... European Journal of Medical Genetics 59 (5), 283-289, 2016 | 41 | 2016 |
A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS G Vitaliti, RR Trifiletti, R Falsaperla, E Parano, A Spalice, P Pavone Journal of Pediatric Neurosciences 9 (1), 79-81, 2014 | 9 | 2014 |
A new patient with Potocki–Lupski syndrome: A literature review AD Praticò, R Falsaperla, R Rizzo, M Ruggieri, A Verrotti, P Pavone Journal of Pediatric Genetics 7 (01), 029-034, 2018 | 21 | 2018 |
A novel 4q32. 3 deletion in a child: additional signs and the role of MARCH1 XG Pappalardo, M Ruggieri, R Falsaperla, S Savasta, U Raucci, ... Journal of Pediatric Genetics 10 (04), 259-265, 2021 | 2 | 2021 |
A novel GABRB3 variant in Dravet syndrome: Case report and literature review P Pavone, XG Pappalardo, SD Marino, L Sciuto, G Corsello, M Ruggieri, ... Molecular genetics & genomic medicine 8 (11), e1461, 2020 | 15 | 2020 |
A probable topiramate-induced limbs paraesthesia and rigid fingers flexion AD Pratico, M Ruggieri, R Falsaperla, P Pavone Current Drug Safety 13 (2), 131-136, 2018 | 40 | 2018 |
A SCN2A loss-of-function variant causing early infantile onset encephalopathy A Riva, L Ferrera, M Albini, A Ludovico, G Lombardo, L Morinelli, ... EPILEPSIA 64, 368-369, 2023 | | 2023 |
A Young Boy with 21q21. 1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report P Pavone, R Falsaperla, M Ruggieri, SD Marino, E Parano, ... Global Medical Genetics 10 (03), 234-239, 2023 | | 2023 |
Absence Of Heart Abnormalities In Subjects Not Carrying Large Nf1 Gene Deletions AL Gabriele, M Ruggieri, C Nucifora, C Mattia, T Sprovieri, A Patitucci, ... NEUROLOGICAL SCIENCES, 2005 | | 2005 |