Pubblicazioni

A proposal of rehabilitative approach in the rare disease âDe Barsy Syndromeâ: case report

2021 - LA CLINICA TERAPEUTICA

Celletti, C.; Camerota, F.; Paolucci, T.; Pezzi, L.; de Meo, D.; Castori, M.; Villani, C.; Persiani, P.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

2019 - CEREBELLUM

Ciaccio, C.; Castello, R.; Esposito, S.; Pinelli, M.; Nigro, V.; Casari, G.; Chiapparini, L.; Pantaleoni, C.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, M.; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.; D'Arrigo, S.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

2019 - MOVEMENT DISORDERS

Carecchio, M.; Invernizzi, F.; Gonzalez-Latapi, P.; Panteghini, C.; Zorzi, G.; Romito, L.; Leuzzi, V.; Galosi, S.; Reale, C.; Zibordi, F.; Joseph, A. P.; Topf, M.; Piano, C.; Bentivoglio, A. R.; Girotti, F.; Morana, P.; Morana, B.; Kurian, M. A.; Garavaglia, B.; Mencacci, N. E.; Lubbe, S. J.; Nardocci, N.

Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus

2018 - DEVELOPMENTAL NEUROPSYCHOLOGY

Burro, Francesca; Cama, Armando; Lertora, Vicenza; Veneselli, Edvige; Rossetti, Serena; Pezzuti, Lina

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Renard, D.; Taieb, G.; Garibaldi, M.; Maues De Paula, A.; Bernard, R.; Lagha, N.; Cristofari, G.; Vovan, C.; Chaix, C.; Levy, N.; Khau Van Kien, P.; Sacconi, S.

Can artificially deforming skulls cause âdefects of intelligenceâ? The observations of a positivist anthropologist on an artificially deformed skull discovered in Naples

2018 - NEUROLOGICAL SCIENCES

Licata, M.; Ciliberti, R.; Iorio, S.

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel â¼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16

2016 - BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY

CASTORI, MARCO; BOTTILLO, IRENE; Morlino, Silvia; BARONE, CHIARA; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno