GIACOMO GARONE

PhD Student

PhD program:: XXXVII
email: giacomo.garone@uniroma1.it

supervisor: Professor Pasquale Parisi

EDUCATION
November 2021- ongoing: PhD Student, PhD Program in synaptic Neuroplasticity, Department of Neuroscience, Mental Health and Sensory Organs, Sapienza University of Rome (Italy)
February 2020-March 2020 and April 2021- September 2021: Visiting Fellow, Movement Disorders Clinic, Neurology Department, Pitié-Salpêtrière Hospital, and Brain and Spine Institute, “normal and abnormal motor control: movement disorders and experimental therapeutics" Research Team, Paris (France)
2016-2021: Pediatric Residency Program, Subspecialty Program in Child Neurology, School of Pediatrics, University of Rome “Tor Vergata”, Bambino Gesù Children’s Hospital, Rome (Italy)
2009–2015 Doctor of Medicine (M.D.) degree, "Sapienza" University of Rome Medical School, Rome (Italy)
2004–2009 High School
OTHER TRAINING EXPERIENCES
March 2018 – March 2019 Advanced Professional Course: Child Neurology: new scientific acquisitions, new diseases, new diagnostic strategies and new therapeutic approaches , "Sapienza" University of Rome Medical School, Rome (Italy)
January 2017-December 2018 Distance Learning Course: Basic Pediatric Neurology Education, Provider: Italian Child Neurology Society (SINP)
May 20-23, 2018 1st International Residential Course on Movement Disorders in Childhood, Bambino Gesù Children’s Hospital
November 22-23, 2018 Movement Disorders in Children and Adolescents,
Movement Disorders Society Course, Groningen (Netherlands)
July 19-21, 2019 Movement Disorder Society Summer School for Young Neurologists, Movement Disorders Society Course, Padua (Italy)
1/8/2014 - 31/8/2014, Visiting Student, Pediatrics Department, Infectious Diseases and Onco-Hematology Unit, University Teaching Hospital “Sylvanus Olympio”, Lomé (Togo)

WORK EXPERIENCES
1/12/2021-Ongoing: Clinical Fellow in Child Neurology, Department of Neuroscience, Bambino Gesù Children’s Hospital, Rome (Italy)
April 2021- September 2021 Visiting Fellow, Movement Disorders Clinic, Neurology Department, Pitié-Salpêtrière Hospital, and Brain and Spine Institute, Paris (France)
1/11/2019 - 31/10/2021 Resident Physician in Pediatrics, Subspecialty training in Child Neurology, Bambino Gesù Children’s Hospital, Rome (Italy)
1/11/2016 - 1/11/2019: Resident Physician in Pediatrics, General pediatric trainings Bambino Gesù Children’s Hospital, Policlinico Casilino and Policlinico Tor Vergata, Rome (Italy)
25/07/2016 -23/08/2016 General Practitioner substitute, Local Health Unit 1, Rome (Italy)

ADDITIONAL INFORMATION
Awards
• Young Prize for best oral communications, XLII Congress of the Italian Child Neurology Society (SINP), 30th November-2nd December 2017, Matera (IT): Acute ataxias in pediatric emergency departments: preliminary data from a multicenter, retrospective SINP study
• European Paediatric Neurology Society Aicardi Fellowship (2020), to support a research and training experience in the field of child neurology

Memberships
• European Academy of Neurology - Resident and Research Fellow Section (RRFS) member
• Member of the European Pediatric Neurology Society (EPNS) - member of the Young EPNS Board
• Member of the Movement Disorders Society (MDS) – Young members and Pediatric Movement Disorders Interest Groups

Research products

11573/1717315 - 2024 - BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia

Garone, G.; Capuano, A.; Amodio, D.; Nicita, F.; Travaglini, L.; Graziola, F.; De Benedictis, A.; Frascarelli, F.; Parisi, P.; Pizzi, S.; Tartaglia, M.; Marras, C. E.; Niceta, M. - 01a Articolo in rivista

paper: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 897-901 - issn: 2330-1619 - wos: WOS:001231782600001 (0) - scopus: 2-s2.0-85194700739 (0)

11573/1717316 - 2024 - Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.

Garone, G.; Innocenti, A.; Grasso, M.; Mandarino, A.; Capuano, A.; Della Bella, G.; Frascarelli, F.; Diodato, D.; Onesimo, R.; Zampino, G.; Novelli, A.; Digilio, M. C.; Bartuli, A.; Dentici, M. L.; Parisi, P.; Galosi, S.; Tonduti, D.; Bertini, E.; Sinibaldi, L.; Specchio, N. - 01a Articolo in rivista

paper: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. 1-5 - issn: 1873-5126 - wos: WOS:001281943300001 (0) - scopus: 2-s2.0-85199495963 (0)

11573/1710311 - 2024 - Pediatric torticollis: clinical report and predictors of urgency of 1409 cases

Raucci, Umberto; Roversi, Marco; Ferretti, Alessandro; Faccia, Valerio; Garone, Giacomo; Panetta, Fabio; Mariani, Carlo; Rizzotto, Eloisa; Torelli, Antonio; Colafati, Giovanna Stefania; Aulisa, Angelo Gabriele; Parisi, Pasquale; Villani, Alberto - 01a Articolo in rivista

paper: THE ITALIAN JOURNAL OF PEDIATRICS (London : BioMed Central Ospedaletto : Pacini Editore) pp. - - issn: 1824-7288 - wos: WOS:001207714900002 (0) - scopus: 2-s2.0-85191332595 (0)

11573/1724441 - 2024 - Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms

Sartorelli, J.; Travaglini, L.; Macchiaiolo, M.; Garone, G.; Gonfiantini, M. V.; Vecchio, D.; Sinibaldi, L.; Frascarelli, F.; Ceccatelli, V.; Petrillo, S.; Piemonte, F.; Piccolo, G.; Novelli, A.; Longo, D.; Pro, S.; D'amico, A.; Bertini, E. S.; Nicita, F. - 01a Articolo in rivista

paper: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:001222274000001 (0) - scopus: 2-s2.0-85191520005 (1)

11573/1697336 - 2023 - Acute pupillary disorders in children: a 10-year retrospective study of 101 patients

Garone, Giacomo; Roversi, Marco; Pisani, Mara; La Penna, Francesco; Musolino, Antonio; Cristaldi, Sebastian; Musolino, Anna Maria; Roberto, Amanda; Petrocelli, Gianni; Reale, Antonino; Midulla, Fabio; Villani, Alberto; Raucci, Umberto - 01a Articolo in rivista

paper: CHILDREN (Basel: MDPI AG, 2014-) pp. - - issn: 2227-9067 - wos: WOS:001120723500001 (0) - scopus: 2-s2.0-85178149857 (0)

11573/1691726 - 2023 - Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies

Van Der Veen, Sterre; Tse, Gabrielle T W; Ferretti, Alessandro; Garone, Giacomo; Post, Bart; Specchio, Nicola; Fung, Victor S C; Trivisano, Marina; Scheffer, Ingrid E - 01a Articolo in rivista

paper: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1884-1892 - issn: 0028-3878 - wos: WOS:001096235900016 (6) - scopus: 2-s2.0-85176508439 (6)

11573/1656386 - 2022 - “Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats

Graziola, F.; Maffi, S.; Grasso, M.; Garone, G.; Migliore, S.; Scaricamazza, E.; Ceccarelli, C.; Casella, M.; Busi, L.; D'alessio, B.; De Luca, A.; Colafati, G. S.; Sabatini, U.; Capuano, A.; Squitieri, F. - 01a Articolo in rivista

paper: JOURNAL OF PERSONALIZED MEDICINE (Basel: MDPI AG, 2011-) pp. 120- - issn: 2075-4426 - wos: WOS:000746970100001 (1) - scopus: 2-s2.0-85123173737 (2)

11573/1656388 - 2022 - Highlighting the Dystonic Phenotype Related to GNAO1

Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; Nemeth, Andrea H; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Méneret, Aurélie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando; Nowak, Catherine; Wilson, William G; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 1547-1554 - issn: 1531-8257 - wos: WOS:000812966100001 (1) - scopus: 2-s2.0-85132116614 (26)

11573/1656383 - 2021 - Acute movement disorders in childhood

Garone, G.; Graziola, F.; Grasso, M.; Capuano, A. - 01a Articolo in rivista

paper: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 2671- - issn: 2077-0383 - wos: WOS:000666521600001 (0) - scopus: 2-s2.0-85114067761 (3)

11573/1537309 - 2021 - Acute strabismus in neurological emergencies of childhood: a retrospective, single-centre study

Garone, Giacomo; Ferro, Valentina; Barbato, Marta; Vanacore, Nicola; Papini, Laura; Pro, Stefano; Boni, Alessandra; Scialanga, Barbara; Nacca, Raffaella; Evangelisti, Melania; Di Nardo, Giovanni; Parisi, Pasquale; Raucci, Umberto - 01a Articolo in rivista

paper: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 80-85 - issn: 1090-3798 - wos: WOS:000655667500015 (2) - scopus: 2-s2.0-85104064621 (4)

11573/1656381 - 2021 - Cognitive assessment in GNAO1 neurodevelopmental disorder using an eye tracking system

Graziola, F.; Garone, G.; Grasso, M.; Capuano, A. - 01a Articolo in rivista

paper: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 3541- - issn: 2077-0383 - wos: WOS:000689261900001 (2) - scopus: 2-s2.0-85112217357 (8)

11573/1656380 - 2021 - Working memory, attention and planning abilities in NKX2.1-related chorea

Graziola, F.; Garone, G.; Grasso, M.; Schirinzi, T.; Capuano, A. - 01a Articolo in rivista

paper: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 24-27 - issn: 1353-8020 - wos: (0) - scopus: 2-s2.0-85108178739 (4)

11573/1580405 - 2021 - Cognitive deficits in children with brain tumours: A project to create a software for cognitive training

Mastronuzzi, Angela; Secco, Domitilla Elena; Laus, Beatrice; Carai, Andrea; Tozzi, Alberto; Premuselli, Roberto; Delli Priscoli, Francesco; Pietrabissa, Antonio; Giuseppi, Alessandro; Menegatti, Danilo; Rizzotto, Eloisa; Garone, Giacomo; Sciancalepore, Francesco; Lacorte, Eleonora; Tariciotti, Leonardo; Remoli, Giulia; Vanacore, Nicola; Raucci, Umberto - 04d Abstract in atti di convegno

paper: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 161-161 - issn: 0022-510X - wos: WOS:000713637301270 (0) - scopus: (0)

conference: World Congress of Neurology (WCN 2021) (Rome, Italy)

book: Abstracts from the World Congress of Neurology (WCN 2021) - ()

11573/1656385 - 2020 - Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

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. - 01a Articolo in rivista

paper: PEDIATRIC NEUROLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 40-45 - issn: 0887-8994 - wos: WOS:000517670500007 (11) - scopus: 2-s2.0-85076242925 (21)

11573/1656376 - 2020 - Alternating hemiplegia of childhood: Understanding the genotype–phenotype relationship of ATP1A3 variations

Capuano, A.; Garone, G.; Tiralongo, G.; Graziola, F. - 01a Articolo in rivista

paper: THE APPLICATION OF CLINICAL GENETICS ([Auckland, N.Z.] : Dove Medical Press, c2008-) pp. 71-81 - issn: 1178-704X - wos: WOS:000525747300001 (12) - scopus: 2-s2.0-85083856254 (24)

11573/1656379 - 2020 - Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias

Garone, G.; Capuano, A.; Travaglini, L.; Graziola, F.; Stregapede, F.; Zanni, G.; Vigevano, F.; Bertini, E.; Nicita, F. - 01a Articolo in rivista

paper: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. 3603- - issn: 1661-6596 - wos: WOS:000539312100199 (18) - scopus: 2-s2.0-85085265781 (44)

11573/1656387 - 2020 - Prestatus and status dystonicus in children and adolescents

Garone, G.; Graziola, F.; Nicita, F.; Frascarelli, F.; Randi, F.; Zazza, M.; Cantonetti, L.; Cossu, S.; Marras, C. E.; Capuano, A. - 01a Articolo in rivista

paper: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (Cambridge University Press / New York:40 West 20th Street:New York, NY 10011:(800)872-7423, (212)924-3900, EMAIL: journals_subscriptions@cup.org, INTERNET: http://www.journals.cambridge.org, Fax: (212)691-3239) pp. 742-749 - issn: 0012-1622 - wos: WOS:000502462900001 (7) - scopus: 2-s2.0-85076756085 (13)

11573/1472362 - 2020 - Characteristics of acute nystagmus in the pediatric emergency department

Garone, G.; Suppiej, A.; Vanacore, N.; La Penna, F.; Parisi, P.; Calistri, L.; Palmieri, A.; Verrotti, A.; Poletto, E.; Rossetti, A.; Cordelli, D. M.; Velardita, M.; D'alonzo, R.; De Liso, P.; Gioe, D.; Marin, M.; Zagaroli, L.; Grosso, S.; Bonfatti, R.; Mencaroni, E.; Masi, S.; Bellelli, E.; Da Dalt, L.; Raucci, U. - 01a Articolo in rivista

paper: PEDIATRICS (American Academy of Pediatrics:141 Northwest Point Boulevard:Elk Grove Village, IL 60007:(800)433-9016, (847)434-4000, EMAIL: journals@aap.org, INTERNET: http://www.aap.org, Fax: (847)434-8000) pp. - - issn: 0031-4005 - wos: WOS:000562983100048 (7) - scopus: 2-s2.0-85089112069 (9)

11573/1656382 - 2020 - Impact of Italian lockdown on Tourette's syndrome patients at the time of the COVID-19 pandemic

Graziola, F.; Garone, G.; Di Criscio, L.; Grasso, M.; Curatolo, P.; Vigevano, F.; Capuano, A. - 01a Articolo in rivista

paper: PSYCHIATRY AND CLINICAL NEUROSCIENCES (-MALDEN:WILEY-BLACKWELL PUBLISHING, INC. -Carlton, Vic. : Blackwell Science, 1995-) pp. 610-612 - issn: 1323-1316 - wos: WOS:000564865000001 (7) - scopus: 2-s2.0-85090088218 (15)

11573/1656378 - 2019 - Vertical Gaze Palsy in Kernicterus

Garone, G.; Graziola, F.; Vigevano, F.; Capuano, A. - 01i Case report

paper: NEUROPEDIATRICS (Hippokrates Verlag GmbH:Postfach 300504, D-70445 Stuttgart Germany:011 49 711 89310, Fax: 011 49 711 8931706) pp. 262-263 - issn: 0174-304X - wos: WOS:000477664200009 (0) - scopus: 2-s2.0-85069189007 (0)

11573/1276660 - 2019 - Acute ataxia in paediatric emergency departments: a multicentre Italian study

Garone, Giacomo; Reale, Antonino; Vanacore, Nicola; Parisi, Pasquale; Bondone, Claudia; Suppiej, Agnese; Brisca, Giacomo; Calistri, Lucia; Cordelli, Duccio Maria; Savasta, Salvatore; Grosso, Salvatore; Midulla, Fabio; Falsaperla, Raffaele; Verrotti, Alberto; Bozzola, Elena; Vassia, Cristina; Da Dalt, Liviana; Maggiore, Rosario; Masi, Stefano; Maltoni, Lucia; Foiadelli, Thomas; Rossetti, Annalisa; Greco, Carla Maria; Marino, Silvia; Di Paolantonio, Claudia; Papetti, Laura; Urbino, Antonio Francesco; Rossi, Rossella; Raucci, Umberto - 01a Articolo in rivista

paper: ARCHIVES OF DISEASE IN CHILDHOOD (- London: BMJ Publishing Group - London: British Medical Association, 1926-) pp. - - issn: 0003-9888 - wos: WOS:000477897000014 (13) - scopus: 2-s2.0-85064006991 (32)

11573/1656374 - 2019 - Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

Graziola, F.; Garone, G.; Stregapede, F.; Bosco, L.; Vigevano, F.; Curatolo, P.; Bertini, E.; Travaglini, L.; Capuano, A. - 01a Articolo in rivista

paper: FRONTIERS IN GENETICS (Lausanne : Frontiers Research Foundation, 2010-) pp. - - issn: 1664-8021 - wos: WOS:000496133200001 (15) - scopus: 2-s2.0-85074775652 (22)

11573/1656377 - 2019 - A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

Graziola, F.; Stregapede, F.; Travaglini, L.; Garone, G.; Verardo, M.; Bosco, L.; Pro, S.; Bertini, E.; Curatolo, P.; Vigevano, F.; Capuano, A. - 01i Case report

paper: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 4-6 - issn: 1353-8020 - wos: WOS:000468719900002 (14) - scopus: 2-s2.0-85064595562 (21)

11573/1227265 - 2019 - Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

Schirinzi, Tommaso; Garone, Giacomo; Travaglini, Lorena; Vasco, Gessica; Galosi, Serena; Rios, Loreto; Castiglioni, Claudia; Barassi, Claudia; Battaglia, Domenica; Luigia Gambardella, Maria; Cantonetti, Laura; Graziola, Federica; Efisio Marras, Carlo; Castelli, Enrico; Bertini, Enrico; Capuano, Alessandro; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)

paper: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 19-25 - issn: 1353-8020 - wos: WOS:000468719900005 (53) - scopus: 2-s2.0-85059734550 (63)

11573/1199648 - 2018 - A cohort study on acute ocular motility disorders in pediatric emergency department

Raucci, Umberto; Parisi, Pasquale; Vanacore, Nicola; Ferro, Valentina; Garone, Giacomo; Sancetta, Federica; Petroni, Sergio; Pro, Stefano; Rossi, Rossella; Reale, Antonino; Pirozzi, Nicola - 01a Articolo in rivista

paper: THE ITALIAN JOURNAL OF PEDIATRICS (London: BioMed Central Ltd. 2008- -Pacini Editore) pp. 62-71 - issn: 1720-8424 - wos: WOS:000433930300002 (3) - scopus: 2-s2.0-85047728893 (3)

11573/1199625 - 2018 - Acute hyperkinetic movement disorders in Italian paediatric emergency departments

Raucci, Umberto; Parisi, Pasquale; Vanacore, Nicola; Garone, Giacomo; Bondone, Claudia; Palmieri, Antonella; Calistri, Lucia; Suppiej, Agnese; Falsaperla, Raffaele; Capuano, Alessandro; Ferro, Valentina; Urbino, Antonio Francesco; Tallone, Ramona; Montemaggi, Alessandra; Sartori, Stefano; Pavone, Piero; Mancardi, Margherita; Melani, Federico; Ilvento, Lucrezia; Pelizza, Maria Federica; Reale, Antonino - 01a Articolo in rivista

paper: ARCHIVES OF DISEASE IN CHILDHOOD (- London: BMJ Publishing Group - London: British Medical Association, 1926-) pp. 790-794 - issn: 0003-9888 - wos: WOS:000440170800019 (11) - scopus: 2-s2.0-85049222173 (11)

11573/856715 - 2016 - Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; Spartà, Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'arrigo, Stefano; Verrotti, Alberto - 01a Articolo in rivista

paper: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 148-55-155 - issn: 1552-4825 - wos: WOS:000367933600019 (25) - scopus: 2-s2.0-84955472591 (22)

11573/931351 - 2016 - The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome

Papetti, Laura; Schettini, Livia; Garone, Giacomo; Gennaro, Elena; Malacarne, Michela; Properzi, Enrico; Spalice, Alberto - 01f Lettera, Nota

paper: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 3041-3042 - issn: 1552-4825 - wos: WOS:000388195300039 (4) - scopus: 2-s2.0-84969932836 (4)

11573/856713 - 2015 - Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy

Nicita, Francesco; Garone, Giacomo; Papetti, Laura; Consoli, Federica; Magliozzi, Monia; De Luca, Alessandro; Spalice, Alberto - 01a Articolo in rivista

paper: JOURNAL OF NEUROGENETICS (Taylor & Francis Limited:Rankine Road, Basingstoke RG24 8PR United Kingdom:011 44 1256 813035, EMAIL: madeline.sims@tandf.co.uk, info@tandf.co.uk, INTERNET: http://www.tandf.co.uk, Fax: 011 44 1256 330245) pp. 178-82-182 - issn: 0167-7063 - wos: WOS:000369293800004 (1) - scopus: 2-s2.0-84956766615 (1)

11573/856716 - 2015 - Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

Nicita, Francesco; Ulgiati, Fiorenza; Bernardini, Laura; Garone, Giacomo; Papetti, Laura; Novelli, Antonio; Spalice, Alberto - 01a Articolo in rivista

paper: ANNALS OF HUMAN GENETICS (Cambridge : Cambridge University Press 1954- Oxford : Blackwell Science,) pp. 209-217 - issn: 1469-1809 - wos: WOS:000353646400006 (11) - scopus: 2-s2.0-84946727775 (11)

11573/788376 - 2015 - Severe early onset ethylmalonic encephalopathy with west syndrome

Papetti, Laura; Garone, Giacomo; Schettini, Laura; Giordano, Carla; Nicita, Francesco; Papoff, Paola; Zeviani, M; Leuzzi, Vincenzo; Spalice, Alberto - 01i Case report

paper: METABOLIC BRAIN DISEASE (Plenum Press:Book Customer Service, 233 Spring Street:New York, NY 10013:(212)620-8471, (212)620-8000, EMAIL: info@plenum.com, INTERNET: http://www.plenum.com, Fax: (212)807-1047) pp. 1537-1545 - issn: 0885-7490 - wos: WOS:000365086600025 (12) - scopus: 2-s2.0-84947030750 (13)