Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Cali, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A.; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B.; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo

Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder

NEUROMOLECULAR MEDICINE

IF3.9

2023-09-213

OAAI

Impact of the Allergic Therapeutic Adherence in Children with Allergic Rhinitis and ADHD: A Pilot Study

JOURNAL OF PERSONALIZED MEDICINE

IF3

2023-08-314

OAAI

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

NATURE COMMUNICATIONS

IF15.7

2023-07-1110

OAAI

Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natalia; Fueyo, Raquel; Waxman, Elisa; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah; Mark, Paul; Harr, Margaret; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle; Chassevent, Anna; Smith-Hicks, Constance; de la Cruz, Xavier; Holtz, Alexander; Elloumi, Houda Zghal; Hajianpour, M. J. L.; Rieubland, Claudine A.; Braun, Dominique; Banka, Siddharth; Genomic England Res Consortium, M. J.; French, Deborah L. S.; Heller, Elizabeth B.; Saade, Murielle; Song, Hongjun J.; Ming, Guo-li A.; Alkuraya, Fowzan; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martinez-Balbas, Marian; Akizu, Naiara

Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study

PEDIATRIC NEUROLOGY

IF2.1

2023-04-010

OAAI

Toldo, Irene; Brunello, Francesco; Cavasin, Paola; Nosadini, Margherita; Sartori, Stefano; Frigo, Anna Chiara; Mai, Roberto; Pelliccia, Veronica; Mancardi, Maria Margherita; Striano, Pasquale; Severino, Marisavina; Zara, Federico; Rizzi, Romana; Casellato, Susanna; Di Rosa, Gabriella; Mastrangelo, Mario; Spalice, Alberto; Budetta, Mauro; De Palma, Luca; Guerrini, Renzo; Pruna, Dario; Cordelli, Duccio Maria; Sofia, Vito; Papa, Amanda; Chiesa, Valentina; Ragona, Francesca; Parisi, Pasquale; D'Aniello, Alfredo; Veggiotti, Pierangelo; Dainese, Filippo; Giordano, Lucio; Licchetta, Laura; Tinuper, Paolo; D'Orsi, Giuseppe; Cassina, Matteo; Manara, Renzo

Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION

IF7.5

2023-01-0128

OAAI

Nosadini, Margherita; Eyre, Michael; Giacomini, Thea; Valeriani, Massimiliano; Della Corte, Marida; Pratico, Andrea D.; Annovazzi, Pietro; Cordani, Ramona; Cordelli, Duccio Maria; Crichiutti, Giovanni; Di Rosa, Gabriella; Dolcemascolo, Valentina; Fetta, Anna; Freri, Elena; Gallo, Paolo; Gastaldi, Matteo; Granata, Tiziana; Grazian, Luisa; Iorio, Raffaele; Lombardini, Martina; Margoni, Monica; Mariotto, Sara; Matricardi, Sara; Melani, Federico; Nardocci, Nardo; Papetti, Laura; Passarini, Alice; Pisani, Francesco; Po, Chiara; Puthenparampil, Marco; Ragona, Francesca; Savasta, Salvatore; Siliquini, Sabrina; Toldo, Irene; Tozzo, Alessandra; Turco, Emanuela Claudia; Varone, Antonio; Vogrig, Alberto; Zuliani, Luigi; Bugin, Samuela; Rossato, Sara; Orsini, Alessandro; Cantalupo, Gaetano; Mancardi, Maria Margherita; Ferilli, Michela Ada Noris; Foiadelli, Thomas; Sartori, Stefano

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

BIOMEDICINES

IF3.9

2022-09-147

OAAI

Cerebellum and Prematurity: A Complex Interplay Between Disruptive and Dysmaturational Events

FRONTIERS IN SYSTEMS NEUROSCIENCE

IF3.5

2021-06-1031

OAAI

A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective

FRONTIERS IN SYSTEMS NEUROSCIENCE

IF3.5

2021-04-0951

OAAI

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-12-0130

OAAI

Donkervoort, Sandra; Kutzner, Carl E.; Hu, Ying; Lornage, Xaviere; Rendu, John; Stojkovic, Tanya; Baets, Jonathan; Neuhaus, Sarah B.; Tanboon, Jantima; Maroofian, Reza; Bolduc, Veronique; Mroczek, Magdalena; Conijn, Stefan; Kuntz, Nancy L.; Topf, Ana; Monges, Soledad; Lubieniecki, Fabiana; McCarty, Riley M.; Chao, Katherine R.; Governali, Serena; Bohm, Johann; Boonyapisit, Kanokwan; Malfatti, Edoardo; Sangruchi, Tumtip; Horkayne-Szakaly, Iren; Hedberg-Oldfors, Carola; Efthymiou, Stephanie; Noguchi, Satoru; Djeddi, Sarah; Iida, Aritoshi; di Rosa, Gabriella; Fiorillo, Chiara; Salpietro, Vincenzo; Darin, Niklas; Faure, Julien; Houlden, Henry; Oldfors, Anders; Nishino, Ichizo; de Ridder, Willem; Straub, Volker; Pokrzywa, Wojciech; Laporte, Jocelyn; Foley, A. Reghan; Romero, Norma B.; Ottenheijm, Coen; Hoppe, Thorsten; Boennemann, Carsten G.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

神经元囊泡圈套VAMP2的突变影响突触膜融合并损害人类神经发育

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-04-0188

OAAI

Salpietro, Vincenzo; Malintan, Nancy T.; Llano-Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C.; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Bello, Oscar D.; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Sultan, Tipu; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E.; Macaya, Alfons; Kullmann, Dimitri M.; Rothman, James E.; Krishnakumar, Shyam S.; Houlden, Henry

Perampanel treatment in early-onset epileptic encephalopathy with infantile movement disorders associated with de novo GRIN1 gene mutation

EUROPEAN NEUROPSYCHOPHARMACOLOGY

IF6.7

2017-10-010

PREAI

Neuroimaging Changes in Menkes Disease, Part 1

AMERICAN JOURNAL OF NEURORADIOLOGY

IF3.7

2017-05-1137

OAAI

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

BRAIN

IF11.7

2017-02-2865

OAAI

Zollo, Massimo; Ahmed, Mustafa; Ferrucci, Veronica; Salpietro, Vincenzo; Asadzadeh, Fatemeh; Carotenuto, Marianeve; Maroofian, Reza; Al-Amri, Ahmed; Singh, Royana; Scognamiglio, Iolanda; Mojarrad, Majid; Musella, Luca; Duilio, Angela; Di Somma, Angela; Karaca, Ender; Rajab, Anna; Al-Khayat, Aisha; Mohapatra, Tribhuvan Mohan; Eslahi, Atieh; Ashrafzadeh, Farah; Rawlins, Lettie E.; Prasad, Rajniti; Gupta, Rashmi; Kumari, Preeti; Srivastava, Mona; Cozzolino, Flora; Rai, Sunil Kumar; Monti, Maria; Harlalka, Gaurav V.; Simpson, Michael A.; Rich, Philip; Al-Salmi, Fatema; Patton, Michael A.; Chioza, Barry A.; Efthymiou, Stephanie; Granata, Francesca; Di Rosa, Gabriella; Wiethoff, Sarah; Borgione, Eugenia; Scuderi, Carmela; Mankad, Kshitij; Hanna, Michael G.; Pucci, Piero; Houlden, Henry; Lupski, James R.; Crosby, Andrew H.; Baple, Emma L.

Gabriella Di Rosa

个人简介

教育背景

工作经历

荣誉奖项

研究方向