Pubblicazioni

Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria

2018 - FRONTIERS IN NEUROSCIENCE

Nardecchia, Francesca; Orlando, Rosamaria; Iacovelli, Luisa; Colamartino, Marco; Fiori, Elena; Leuzzi, Vincenzo; Piccinin, Sonia; Nistico, Robert; Puglisi-Allegra, Stefano; Di Menna, Luisa; Battaglia, Giuseppe; Nicoletti, Ferdinando; Pascucci, Tiziana

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

Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

2018 - ACTA PAEDIATRICA

Cappuccio, Gerarda; Torella Anna, Laura; Mastrangelo, Mario; Carducci, Claudia; Nigro, Vincenzo; Tudp, ; Brunetti-Pierri, Nicola; Leuzzi, Vincenzo

PRICKLE1-related early onset epileptic encephalopathy

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Mastrangelo, M; Tolve, M; Martinelli, M; DI NOIA, S; Parrini, E; Leuzzi, V

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

2018 - AMERICAN JOURNAL OF HUMAN GENETICS

Bauer, Christiane K.; Calligari, Paolo; Radio, Francesca Clementina; Caputo, Viviana; Dentici, Maria Lisa; Falah, Nadia; High, Frances; Pantaleoni, Francesca; Barresi, Sabina; Ciolfi, Andrea; Pizzi, Simone; Bruselles, Alessandro; Person, Richard; Richards, Sarah; Cho, Megan T.; Claps Sepulveda, Daniela J.; Pro, Stefano; Battini, Roberta; Zampino, Giuseppe; Digilio, Maria Cristina; Bocchinfuso, Gianfranco; Dallapiccola, Bruno; Stella, Lorenzo; Tartaglia, Marco

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.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

2018 - GENETICS IN MEDICINE

Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; HjortshÃ¸j, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; GrÃ¸nborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; MÃ¸ller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia