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- [1] GNAO1-related neurodevelopmental disorder: Literature review and caregiver surveyEPILEPSY & BEHAVIOR REPORTS, 2023, 21Yang, Qian-Zhou JoJo论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Neurol, Div Child Neurol, Chapel Hill, NC USA 170 Manning Dr, Campus Box 7025, Chapel Hill, NC 27599 USA Univ N Carolina, Dept Neurol, Div Child Neurol, Chapel Hill, NC USAPorter, Brenda E.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Neurol, Div Child Neurol, Palo Alto, CA USA Univ N Carolina, Dept Neurol, Div Child Neurol, Chapel Hill, NC USAAxeen, Erika论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Neurol, Div Pediat Neurol, Charlottesville, VA USA Univ N Carolina, Dept Neurol, Div Child Neurol, Chapel Hill, NC USA
- [2] GNAO1-related Neurodevelopmental Disorder with Involuntary Movements Inducing a Dyskinetic StatusMOVEMENT DISORDERS, 2024, 39 : S520 - S520Silva, M.论文数: 0 引用数: 0 h-index: 0Lacerda, P.论文数: 0 引用数: 0 h-index: 0Maciel, V.论文数: 0 引用数: 0 h-index: 0Massruha, K.论文数: 0 引用数: 0 h-index: 0Alves, A.论文数: 0 引用数: 0 h-index: 0Ferreira, I.论文数: 0 引用数: 0 h-index: 0Brum, I.论文数: 0 引用数: 0 h-index: 0Santana, A.论文数: 0 引用数: 0 h-index: 0Sakuma, M.论文数: 0 引用数: 0 h-index: 0Cury, R.论文数: 0 引用数: 0 h-index: 0Gusmao, C.论文数: 0 引用数: 0 h-index: 0
- [3] RNAi-based gene therapy approach for GNAO1-related neurodevelopmental disorderHUMAN GENE THERAPY, 2019, 30 (11) : A99 - A99Bardina, M. V.论文数: 0 引用数: 0 h-index: 0机构: Russian Acad Sci, Inst Gene Biol, Moscow, Russia Marlin Biotech, Moscow, Russia Russian Acad Sci, Inst Gene Biol, Moscow, RussiaPolikarpova, A. V.论文数: 0 引用数: 0 h-index: 0机构: Russian Acad Sci, Inst Gene Biol, Moscow, Russia Marlin Biotech, Moscow, Russia Russian Acad Sci, Inst Gene Biol, Moscow, RussiaLoseva, E. M.论文数: 0 引用数: 0 h-index: 0机构: Marlin Biotech, Moscow, Russia Russian Acad Sci, Inst Gene Biol, Moscow, RussiaVassilieva, S. G.论文数: 0 引用数: 0 h-index: 0机构: Russian Acad Sci, Inst Gene Biol, Moscow, Russia Marlin Biotech, Moscow, Russia Russian Acad Sci, Inst Gene Biol, Moscow, RussiaEgorova, T. V.论文数: 0 引用数: 0 h-index: 0机构: Russian Acad Sci, Inst Gene Biol, Moscow, Russia Marlin Biotech, Moscow, Russia Russian Acad Sci, Inst Gene Biol, Moscow, Russia
- [4] Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver SurveyPEDIATRIC NEUROLOGY, 2021, 121 : 28 - 32Axeen, Erika论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Neurol, POB 800394, Charlottesville, VA 22908 USA Univ Virginia, Dept Neurol, POB 800394, Charlottesville, VA 22908 USABell, Emily论文数: 0 引用数: 0 h-index: 0机构: Bow Fdn, Springfield, VA USA Univ Virginia, Dept Neurol, POB 800394, Charlottesville, VA 22908 USAViehoever, Amy Robichaux论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, St Louis, MO 63110 USA Univ Virginia, Dept Neurol, POB 800394, Charlottesville, VA 22908 USASchreiber, John M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Dept Neurol, 111 Michigan Ave NW, Washington, DC 20010 USA Univ Virginia, Dept Neurol, POB 800394, Charlottesville, VA 22908 USASidiropoulos, Christos论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Dept Neurol, E Lansing, MI USA Univ Virginia, Dept Neurol, POB 800394, Charlottesville, VA 22908 USAGoodkin, Howard P.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Neurol & Pediat, Charlottesville, VA USA Univ Virginia, Dept Neurol, POB 800394, Charlottesville, VA 22908 USA
- [5] I regulation in neurodevelopmental disorders: EEG investigation of children with GNAO1-related disordersEPILEPSIA, 2024, 65 : 303 - 303Dominguez-Carral, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, Spain Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainTongyu, W.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Integrat Neurophysiol, Ctr Neurogen & Cognit Res CNCR, Neurosci, Amsterdam, Netherlands Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainLudlam, W. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Herbert Wertheim UF Scripps Inst Biomed Innovat &, Dept Neurosci, Jupiter, FL USA Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainJunyent Segarra, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Dept Rehabil, Barcelona, Spain Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainFornaguera Marti, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Dept Rehabil, Barcelona, Spain Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainBruining, H.论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, Emma Childrens Hosp, You Neurodev Precis Ctr N, Child & Adolescent Psychiat & Psychosocial Care, Amsterdam, Netherlands Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainMartemyanov, K. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Herbert Wertheim UF Scripps Inst Biomed Innovat &, Dept Neurosci, Jupiter, FL USA Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainLinkenkaer-Hansen, K.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Integrat Neurophysiol, Ctr Neurogen & Cognit Res CNCR, Neurosci, Amsterdam, Netherlands Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, SpainOrtigoza-Escobar, J. D.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Dept Neurol, Movement Disorders Unit, Barcelona, Spain Hosp St Joan de Deu, Dept Neurol, Epilepsy Unit, Barcelona, Spain
- [6] Dyskinetic crisis in GNAO1-related disorder: A comprehensive international Delphi studyEPILEPSIA, 2024, 65 : 378 - 378Dominguez Carral, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, Spain Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainReinhard, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen Hosp, Ctr Rare Dis, Tubingen, Germany Inst Med Genet & Appl Genom, Tubingen, Germany European Reference Network Rare Neurol Dis ERN RN, Tubingen, Germany Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainEbrahimi-Fakhari, D.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Movement Disorders Program, Boston, MA 02115 USA Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainDorison, N.论文数: 0 引用数: 0 h-index: 0机构: Hop Fdn Rothschild, Dyspa Unit, Pediat Neurosurg, Paris, France Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainGalosi, S.论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainGarone, G.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Children Hosp, Epilepsy & Movement Disorders Unit, Neurol, Rome, Italy Sapienza Univ Rome, Fac Med & Psychol, Dept Neurosci Mental Hlth & Sensory Organs NESMOS, Rome, Italy Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainMalenica, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Sestre Milosrdnice, Dept Child Neurol, Zagreb, Croatia ERN EpiCARE, Zagreb, Croatia Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainRavelli, C.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Ctr Reference Neurogenet, Serv Neuropediat Pathol Dev, Hop Trousseau, Paris, France Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainSerdaroglu, E.论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Dept Pediat Neurol, Fac Med, Ankara, Turkiye Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, Spainvan de Pol, L.论文数: 0 引用数: 0 h-index: 0机构: Emma Childrens Hosp, Amsterdam, Netherlands Vrije Univ, Amsterdam UMC, Dept Child Neurol, Amsterdam, Netherlands Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainKoy, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Dept Pediat, Cologne, Germany Univ Cologne, Univ Hosp Cologne, Dept Pediat, Cologne, Germany Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainLeuzzi, V.论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainRoubertie, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Dept Neuropediat, INM, Montpellier, France Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainLin, J-P论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas NHS Fdn Trust, Evelina London Childrens Hosp, Childrens Neurosci Dept, London, England Kings Coll London, Women & Childrens Inst, Fac Life Sci & Med FolSM, London, England Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainDoummar, D.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Ctr Reference Neurogenet, Serv Neuropediat Pathol Dev, Hop Trousseau, Paris, France Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainCif, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Montpellier, Dept Neurochirurg, Hop Gui Chauliac, Unite Pathol Cerebr Resistantes, Montpellier, France Lausanne Univ Hosp CHUV, Dept Clin Neurosci, Serv Neurol, Lausanne, Switzerland Lab Rech Neurosci Clin, Montferrier Sur Lez, France Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, SpainOrtigoza-Escobar, J. D.论文数: 0 引用数: 0 h-index: 0机构: European Reference Network Rare Neurol Dis ERN RN, Tubingen, Germany Inst Recerca St Joan Deu, Dept Child Neurol, Movement Disorders Unit, Barcelona, Spain Inst Salud Carlos III, U 703 Ctr Biomed Res Rare Dis CIBER ER, Barcelona, Spain Inst Recerca St Joan Deu, Dept Child Neurol, Epilepsy Unit, Barcelona, Spain
- [7] Experience with the Ketogenic Diet in GNAO1-related EpilepsyANNALS OF NEUROLOGY, 2023, 94 : S64 - S64Becton, J.论文数: 0 引用数: 0 h-index: 0Axeen, E.论文数: 0 引用数: 0 h-index: 0Gulotta, D.论文数: 0 引用数: 0 h-index: 0Boguszowsky, K.论文数: 0 引用数: 0 h-index: 0Viehoever, A.论文数: 0 引用数: 0 h-index: 0
- [8] Visual Function in Children with GNAO1-Related EncephalopathyGENES, 2023, 14 (03)Gambardella, Maria Luigia论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyPede, Elisa论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyOrazi, Lorenzo论文数: 0 引用数: 0 h-index: 0机构: IAPB Italia ONLUS, Natl Ctr Serv & Res Prevent Blindness & Rehabil Vi, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Ophthalmol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyLeone, Simona论文数: 0 引用数: 0 h-index: 0机构: IAPB Italia ONLUS, Natl Ctr Serv & Res Prevent Blindness & Rehabil Vi, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Ophthalmol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyQuintiliani, Michela论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyAmorelli, Giulia Maria论文数: 0 引用数: 0 h-index: 0机构: IAPB Italia ONLUS, Natl Ctr Serv & Res Prevent Blindness & Rehabil Vi, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Ophthalmol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyPetrianni, Maria论文数: 0 引用数: 0 h-index: 0机构: IAPB Italia ONLUS, Natl Ctr Serv & Res Prevent Blindness & Rehabil Vi, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Ophthalmol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyGalanti, Marta论文数: 0 引用数: 0 h-index: 0机构: IAPB Italia ONLUS, Natl Ctr Serv & Res Prevent Blindness & Rehabil Vi, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Ophthalmol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyAmore, Filippo论文数: 0 引用数: 0 h-index: 0机构: IAPB Italia ONLUS, Natl Ctr Serv & Res Prevent Blindness & Rehabil Vi, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Ophthalmol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyMusto, Elisa论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyPerulli, Marco论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyContaldo, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyVeredice, Chiara论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyMercuri, Eugenio Maria论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyBattaglia, Domenica Immacolata论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, ItalyRicci, Daniela论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy IAPB Italia ONLUS, Natl Ctr Serv & Res Prevent Blindness & Rehabil Vi, I-00168 Rome, Italy Fdn Policlin Univ A Gemelli IRCCS, Pediat Neurol Unit, I-00168 Rome, Italy
- [9] Hyperekplexia in patient with GNAO1-related syndromes.EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 1129 - 1129论文数: 引用数: h-index:机构:Mazurkiewicz-Beldzinska, M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, Gdansk, Poland Med Univ Gdansk, Gdansk, PolandMatheisel, A.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, Gdansk, Poland Med Univ Gdansk, Gdansk, PolandPilarska, E.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, Gdansk, Poland Med Univ Gdansk, Gdansk, PolandSzmuda, M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, Gdansk, Poland Med Univ Gdansk, Gdansk, PolandTrybala, E.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, Gdansk, Poland Med Univ Gdansk, Gdansk, Poland论文数: 引用数: h-index:机构:Modrzejewska, S.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Gdansk, Gdansk, Poland Med Univ Gdansk, Gdansk, Poland
- [10] GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatmentsPARKINSONISM & RELATED DISORDERS, 2023, 111Novelli, Maria论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyGalosi, Serena论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Unit Child Neurol & Psychiat, Via Sabelli 108, I-00185 Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyZorzi, Giovanna论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Carlo Besta Neurol Inst, Dept Pediat Neurosci, Milan, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyMartinelli, Simone论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyCapuano, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Dept Neurosci, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyNardecchia, Francesca论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyGranata, Tiziana论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Carlo Besta Neurol Inst, Dept Pediat Neurosci, Milan, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyPollini, Luca论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyDi Rocco, Martina论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Ist Super Sanita, Dept Oncol & Mol Med, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyMarras, Carlo Efisio论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Dept Neurosci, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyNardocci, Nardo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Carlo Besta Neurol Inst, Dept Pediat Neurosci, Milan, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, ItalyLeuzzi, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy