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FALSAPERLA, Raffaele Giuseppe

FALSAPERLA, Raffaele Giuseppe  

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7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review 1-gen-2019 Pavone, P.; Corsello, G.; Marino, S. D.; Ruggieri, M.; Falsaperla, R.
A case of covid-19 with late-onset rash and transient loss of taste and smell in a 15-year-old boy 1-gen-2020 Maniaci, A.; Iannella, G.; Vicini, C.; Pavone, P.; Nunnari, G.; Falsaperla, R.; Di Mauro, P.; Ferlito, S.; Cocuzza, S.
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment 1-gen-2017 Pavone, Piero; Praticò, Andrea Domenico; Rizzo, Renata; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele
A critical appraisal of neurological evidence on paediatric COVID-19 patients. A systematic literature review 1-gen-2023 Falsaperla, Raffaele; Gulisano, Chiara; Portale, Laura; Maccarrone, Amanda; Ruggieri, Martino
A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review 1-gen-2016 Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, Martino; Neri, G; Pavone, Vito; Zollino, M.
A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: A new patient with a novel feature 1-gen-2016 Pavone, Piero; Praticò, Andrea D.; Campisi, Corrado; Falsaperla, Raffaele file da validare
A New Patient with Potocki-Lupski Syndrome: A Literature Review 1-gen-2018 Praticò, Andrea Domenico; Falsaperla, Raffaele; Rizzo, Renata; Ruggieri, Martino; Verrotti, Alberto; Pavone, Piero file da validare
A novel GABRB3 variant in Dravet syndrome: Case report and literature review 1-gen-2020 Pavone, P.; Pappalardo, X. G.; Marino, S. D.; Sciuto, L.; Corsello, G.; Ruggieri, M.; Parano, E.; Piccione, M.; Falsaperla, R.
A Probable Topiramate-induced Limbs Paraesthesia and Rigid Fingers Flexion 1-gen-2018 Pratico, Andrea Domenico; Ruggieri, Martino; Falsaperla, Raffaele; Pavone, Piero
A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report 1-gen-2023 Pavone, Piero; Falsaperla, Raffaele; Ruggieri, Martino; Marino, Simona Domenica; Parano, Enrico; Pappalardo, Xena Giada
Acute Glomerulonephritis in a Child with Chlamydia pneumoniae Infection: A Case Report 1-gen-2013 Vitaliti, Giovanna; Falsaperla, Raffaele; Giunta, Leandra; Spataro, Giuseppina; Rapisarda, Venerando; Velardita, Mario; Nunnari, Giuseppe; Pavone, Piero file da validare
aEEG vs cEEG's sensivity for seizure detection in the setting of neonatal intensive care units: A systematic review and meta-analysis 1-gen-2022 Falsaperla, Raffaele; Scalia, Bruna; Giaccone, Fabiola; Suppiej, Agnese; Pulvirenti, Alfredo; Mailo, Janette; Ruggieri, Martino
ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy 1-gen-2021 La Mendola, Flavia Maria Consuelo; Timpanaro, Tiziana; Caruso, Daniela; Garozzo, Maria Teresa; Presti, Santiago; Romano, Catia; Praticò, Elena R.; Lombardo, Giulia; Zanghì, Antonio; Falsaperla, Raffaele file da validare
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review 1-gen-2022 Pavone, Piero; Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele; Parano, Enrico
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability 1-gen-2022 Pavone, Piero; Pappalardo, XENA GIADA; Mustafa, Naira; Yoon Cho, Sung; Kyu Jin, Dong; Incorpora, Gemma; Falsaperla, Raffaele; Marino, SIMONA DOMENICA; Corsello, Giovanni; Parano, Enrico; Ruggieri, Martino
Aristaless-related homeobox (ARX): Epilepsy phenotypes beyond lissencephaly and brain malformations 1-gen-2021 Scalia, B.; Venti, V.; Ciccia, L. M.; Criscione, R.; Bianco, M. L.; Sciuto, L.; Falsaperla, R.; Zanghi, A.; Pratico, A. D. file da validare
Array-CGH in pediatric neurology: A prospective observational study 1-gen-2016 Vitaliti, Giovanna; Pavone, Piero; Motamed-Gorji, Nazgol; Matin, Nassim; Vecchio, Michele; Ledda, Caterina; Lubrano, Riccardo; Falsaperla, Raffaele
Beyond neonatal seizures - epileptic evolution in preterm newborns: a systematic review and meta-analysis 1-gen-2022 Falsaperla, R.; Mauceri, L.; Motta, M.; Prezioso, G.; Ruggieri, M.; Pisani, F.
Calcium Channels Genes and Their Epilepsy Phenotypes 1-gen-2021 Caccamo, Martina; Pulvirenti, Giulio; Lo Bianco, Manuela; Mazzurco, Marina; Praticò, Elena R.; Giallongo, Alessandro; Gangi, Gloria; Zanghì, Antonio; Falsaperla, Raffaele file da validare
Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth 1-gen-2023 Praticò, Andrea D; Falsaperla, Raffaele; Comella, Mattia; Belfiore, Giuseppe; Polizzi, Agata; Ruggieri, Martino