Pubblicazioni

Behind closed eyes: Understanding nightmares in children and adolescents with autism spectrum disorder â A systematic review

2025 - NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Pellegrini, Elisa; Scarpelli, Serena; Alfonsi, Valentina; Gorgoni, Maurizio; Pazzaglia, Mariella; De Gennaro, Luigi

Glucocorticoids rescue cell surface trafficking of R451C Neuroligin3 and enhance synapse formation

2024 - TRAFFIC

Diamanti, T.; Trobiani, L.; Mautone, L.; Serafini, F.; Gioia, R.; Ferrucci, L.; Lauro, C.; Bianchi, S.; Perfetto, C.; Guglielmo, S.; Sollazzo, R.; Giorda, E.; Setini, A.; Ragozzino, D.; Miranda, E.; Comoletti, D.; Di Angelantonio, S.; Cacci, E.; De Jaco, A.

Sleep Disturbances and Co-sleeping in Italian Children and Adolescents with Autism Spectrum Disorder

2024 - JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

Scarpelli, Serena; Menghini, Deny; Alfonsi, Valentina; Giumello, Francesca; Annarumma, Ludovica; Gorgoni, Maurizio; Valeri, Giovanni; Pazzaglia, Mariella; De Gennaro, Luigi; Vicari, Stefano

Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature (Frontiers in Neurology, (2023), 14, (1301147), 10.3389/fneur.2023.1301147)

2024 - FRONTIERS IN NEUROLOGY

Scorrano, G.; Battaglia, L.; Spiaggia, R.; Basile, A.; Palmucci, S.; Foti, P. V.; David, E.; Marinangeli, F.; Mascilini, I.; Corsello, A.; Comisi, F.; Vittori, A.; Salpietro, V.

Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature (Frontiers in Neurology, (2023), 14, (1301147), 10.3389/fneur.2023.1301147)

2024 - FRONTIERS IN NEUROLOGY

Scorrano, G.; Battaglia, L.; Spiaggia, R.; Basile, A.; Palmucci, S.; Foti, P. V.; David, E.; Marinangeli, F.; Mascilini, I.; Corsello, A.; Comisi, F.; Vittori, A.; Salpietro, V.

CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes

2023 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Muto, Valentina; Benigni, Federica; Magliocca, Valentina; Borghi, Rossella; Flex, Elisabetta; Pallottini, Valentina; Rosa, Alessandro; Compagnucci, Claudia; Tartaglia, Marco

Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient

2023 - MOVEMENT DISORDERS CLINICAL PRACTICE

Nardecchia, F; Bove, R; Pollini, L; Giannini, Mt; Manti, F; De Giorgi, A; Papoff, P; Martinelli, S; Leuzzi, V

Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

2023 - FRONTIERS IN NEUROLOGY

Scorrano, G.; Laura, B.; Spiaggia, R.; Basile, A.; Palmucci, S.; Foti, P. V.; David, E.; Marinangeli, F.; Mascilini, I.; Corsello, A.; Comisi, F.; Vittori, A.; Salpietro, V.

Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

2022 - MOLECULAR NEUROBIOLOGY

Napoli, Giulia; Panzironi, Noemi; Traversa, Alice; Catalanotto, Caterina; Pace, Valentina; Petrizzelli, Francesco; Giovannetti, Agnese; Lazzari, Sara; Cogoni, Carlo; Tartaglia, Marco; Carella, Massimo; Mazza, Tommaso; Pizzuti, Antonio; Parisi, Chiara; Caputo, Viviana

Early Neuro-Psychomotor Therapy Intervention for Theory of Mind and Emotion Recognition in Neurodevelopmental Disorders: A Pilot Study

2022 - CHILDREN

Giangiacomo, E.; Visaggi, M. C.; Aceti, F.; Giacchetti, N.; Martucci, M.; Giovannone, F.; Valente, D.; Galeoto, G.; Tofani, M.; Sogos, C.

MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms

2022 - SEIZURE

Trivisano, Marina; De Dominicis, Angela; Micalizzi, Alessia; Ferretti, Alessandro; Dentici, Maria Lisa; Terracciano, Alessandra; Calabrese, Costanza; Vigevano, Federico; Novelli, Giuseppe; Novelli, Antonio; Specchio, Nicola

The cerebellum is linked to theory of mind alterations in autism. A direct clinical and MRI comparison between individuals with autism and cerebellar neurodegenerative pathologies

2021 - AUTISM RESEARCH

Clausi, Silvia; Olivito, Giusy; Siciliano, Libera; Lupo, Michela; Laghi, Fiorenzo; Baiocco, Roberto; Leggio, Maria

Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant

2021 - EPILEPTIC DISORDERS

Schiavoni, S.; Spagnoli, C.; Rizzi, S.; Salerno, G. G.; Frattini, D.; Pisani, F.; Fusco, C.

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

2020 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pollini, Luca; Galosi, Serena; Tolve, Manuela; Caputi, Caterina; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from NicolaidesâBaraitser syndrome

2020 - GENETICS IN MEDICINE

Cappuccio, G.; Sayou, C.; Tanno, P. L.; Tisserant, E.; Bruel, A. -L.; Kennani, S. E.; Sa, J.; Low, K. J.; Dias, C.; Havlovicova, M.; Hancarova, M.; Eichler, E. E.; Devillard, F.; Moutton, S.; Van-Gils, J.; Dubourg, C.; Odent, S.; Gerard, B.; Piton, A.; Yamamoto, T.; Okamoto, N.; Firth, H.; Metcalfe, K.; Moh, A.; Chapman, K. A.; Aref-Eshghi, E.; Kerkhof, J.; Torella, A.; Nigro, V.; Perrin, L.; Piard, J.; Le Guyader, G.; Jouan, T.; Thauvin-Robinet, C.; Duffourd, Y.; George-Abraham, J. K.; Buchanan, C. A.; Williams, D.; Kini, U.; Wilson, K.; Nigro, V.; Brunetti-Pierri, N.; Casari, G.; Cappuccio, G.; Torella, A.; Pinelli, M.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Capra, V.; Parenti, G.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Banfi, S.; Zollino, M.; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.; Peron, A.; Pantaleoni, C.; Castello, R.; D'Arrigo, S.; Sousa, S. B.; Hennekam, R. C. M.; Sadikovic, B.; Thevenon, J.; Govin, J.; Vitobello, A.; Brunetti-Pierri, N.

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

2020 - NEUROGENETICS

Scala, M.; Zonneveld-Huijssoon, E.; Brienza, M.; Mecarelli, O.; van der Hout, A. H.; Zambrelli, E.; Turner, K.; Zara, F.; Peron, A.; Vignoli, A.; Striano, P.

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

2020 - PEDIATRIC NEUROLOGY

Barresi, S.; Dentici, M. L.; Manzoni, F.; Bellacchio, E.; Agolini, E.; Pizzi, S.; Ciolfi, A.; Tarnopolsky, M.; Brady, L.; Garone, G.; Novelli, A.; Mei, D.; Guerrini, R.; Capuano, A.; Pantaleoni, C.; Tartaglia, M.

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