G
Giovanni Fabbrini
Researcher at Sapienza University of Rome
Publications - 318
Citations - 12735
Giovanni Fabbrini is an academic researcher from Sapienza University of Rome. The author has contributed to research in topics: Parkinson's disease & Dystonia. The author has an hindex of 56, co-authored 287 publications receiving 11067 citations. Previous affiliations of Giovanni Fabbrini include National Institutes of Health.
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Journal ArticleDOI
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Günter U. Höglinger,Nadine M. Melhem,Dennis W. Dickson,Patrick M. A. Sleiman,Li-San Wang,Lambertus Klei,Rosa Rademakers,Rohan de Silva,Irene Litvan,David E. Riley,John C. van Swieten,Peter Heutink,Zbigniew K. Wszolek,Ryan J. Uitti,Jana Vandrovcova,Howard I. Hurtig,Rachel G. Gross,Walter Maetzler,Stefano Goldwurm,Eduardo Tolosa,Barbara Borroni,Pau Pastor,Laura B. Cantwell,Mi Ryung Han,Allissa Dillman,Marcel P. van der Brug,J. Raphael Gibbs,J. Raphael Gibbs,Mark R. Cookson,Dena G. Hernandez,Dena G. Hernandez,Andrew B. Singleton,Matthew J. Farrer,Chang En Yu,Lawrence I. Golbe,Tamas Revesz,John Hardy,Andrew J. Lees,Bernie Devlin,Hakon Hakonarson,Ulrich Müller,Gerard D. Schellenberg,Roger L. Albin,Elena Alonso,Angelo Antonini,Manuela Apfelbacher,Steven E. Arnold,Jesús Avila,Thomas G. Beach,Sherry Beecher,Daniela Berg,Thomas D. Bird,Nenad Bogdanovic,Agnita J.W. Boon,Yvette Bordelon,Alexis Brice,Alexis Brice,Herbert Budka,Margherita Canesi,Wang Zheng Chiu,Roberto Cilia,Carlo Colosimo,Peter Paul De Deyn,Justo Garcãa De Yebenes,Laura Donker Kaat,Ranjan Duara,Alexandra Durr,Alexandra Durr,Sebastiaan Engelborghs,Giovanni Fabbrini,Nicole A. Finch,Robyn Flook,Matthew P. Frosch,Carles Gaig,Douglas Galasko,Thomas Gasser,Marla Gearing,Evan T. Geller,Bernardino Ghetti,Neill R. Graff-Radford,Murray Grossman,Deborah A. Hall,Lili-Naz Hazrati,Matthias Höllerhage,Joseph Jankovic,Jorge L. Juncos,Anna Karydas,Hans A. Kretzschmar,Isabelle Leber,Isabelle Leber,Virginia M.-Y. Lee,Andrew P. Lieberman,Kelly E. Lyons,Claudio Mariani,Eliezer Masliah,Luke A. Massey,Catriona McLean,Nicoletta Meucci,Bruce L. Miller,Brit Mollenhauer,Jens Carsten Möller,Huw R. Morris,Christopher Morris,Sean S. O'Sullivan,Wolfgang H. Oertel,Donatella Ottaviani,Alessandro Padovani,Rajesh Pahwa,Gianni Pezzoli,Stuart Pickering-Brown,Werner Poewe,Alberto Rábano,Alex Rajput,Stephen G. Reich,Gesine Respondek,Sigrun Roeber,Jonathan D. Rohrer,Owen A. Ross,Martin N. Rossor,Giorgio Sacilotto,William W. Seeley,Klaus Seppi,Laura Silveira-Moriyama,Salvatore Spina,Karin Srulijes,Peter St George-Hyslop,Maria Stamelou,David G. Standaert,Silvana Tesei,Wallace W. Tourtellotte,Claudia Trenkwalder,Claire Troakes,John Q. Trojanowski,Juan C. Troncoso,Vivianna M. Van Deerlin,Jean Paul G. Vonsattel,Gregor K. Wenning,Charles L. White,Pia Winter,Chris Zarow,Anna Zecchinelli +140 more
TL;DR: Two independent variants in MAPT affecting risk for PSP are confirmed, one of which influences MAPT brain expression and the genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface and for a myelin structural component.
Journal ArticleDOI
Levodopa-induced dyskinesias.
Giovanni Fabbrini,Jonathan M. Brotchie,Francisco Grandas,Masahiro Nomoto,Christopher G. Goetz +4 more
TL;DR: This review focuses on three issues related to Levodopa‐induced dyskinesia: clinical features, classification and rating, pathophysiology and pathogenesis, and management.
Journal ArticleDOI
Motor fluctuations in Parkinson's disease: Central pathophysiological mechanisms, part II
TL;DR: It is suggested that postsynaptic modifications, presumably at the receptor level, serve as the major determinant for the increasing difficulty with optimal dose adjustment and motor fluctuations, especially of the on‐off type, which complicate levodopa therapy of patients with advance Parkinson's disease.
Journal ArticleDOI
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
A. Di Fonzo,Hsin Fen Chien,M. Socal,S. Giraudo,Cristina Tassorelli,G. Iliceto,Giovanni Fabbrini,Roberto Marconi,E. Fincati,Giovanni Abbruzzese,P. Marini,Ferdinando Squitieri,Martin W.I.M. Horstink,Pasquale Montagna,A. Dalla Libera,Fabrizio Stocchi,Stefano Goldwurm,Joaquim J. Ferreira,Giuseppe Meco,Emilia Martignoni,Leonardo Lopiano,Laura Bannach Jardim,Ben A. Oostra,Egberto Reis Barbosa,Vincenzo Bonifati +24 more
TL;DR: It is confirmed that ATP13A2 homozygous mutations are associated with human parkinsonism, and the associated genotypic and clinical spectrum is expanded, by describing a homozygOUS missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP 13A2 mutations (Kufor-Rakeb syndrome).
Journal ArticleDOI
Early-onset parkinsonism associated with PINK1 mutations Frequency, genotypes, and phenotypes
Vincenzo Bonifati,Christan F. Rohé,Guido J. Breedveld,Edito Fabrizio,M. De Mari,Cristina Tassorelli,A. Tavella,Roberto Marconi,David Nicholl,Hsin Fen Chien,E. Fincati,Giovanni Abbruzzese,P. Marini,A. De Gaetano,Martin W.I.M. Horstink,J. A. Maat-Kievit,Cristina Sampaio,Angelo Antonini,Fabrizio Stocchi,Pasquale Montagna,Vincenzo Toni,Marco Guidi,A. Dalla Libera,Michele Tinazzi,F. de Pandis,Giovanni Fabbrini,Stefano Goldwurm,A. de Klein,Egberto Reis Barbosa,Leonardo Lopiano,Emilia Martignoni,Paolo Lamberti,Nicola Vanacore,Giuseppe Meco,Ben A. Oostra +34 more
TL;DR: PINK1 homozygous mutations are a relevant cause of disease among Italian sporadic patients with early-onset parkinsonism, and this study suggests that, at least in some patients, these mutations are disease causing, in combination with additional, still unknown factors.