E
Edito Fabrizio
Researcher at Sapienza University of Rome
Publications - 26
Citations - 3241
Edito Fabrizio is an academic researcher from Sapienza University of Rome. The author has contributed to research in topics: Parkinsonism & Parkinson's disease. The author has an hindex of 19, co-authored 26 publications receiving 3112 citations. Previous affiliations of Edito Fabrizio include Ludwig Maximilian University of Munich.
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Journal ArticleDOI
A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe
Nacer Abbas,C. B. Lücking,Ricard S,Alexandra Durr,Bonifati,De Michele G,Bouley S,Vaughan,Thomas Gasser,Roberto Marconi,Emmanuel Broussolle,Christine Brefel-Courbon,Biswadjiet S. Harhangi,Ben A. Oostra,Edito Fabrizio,Georg Andrees Bohme,Laurent Pradier,Nicholas W. Wood,Alessandro Filla,Giuseppe Meco,Patrice Denefle,Yves Agid,Alexis Brice +22 more
TL;DR: It is shown that a wide variety of different mutations in the parkin gene are a common cause of autosomal recessive parkinsonism in Europe and that different types of point mutations seem to be more frequently responsible for the disease phenotype than are deletions.
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A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Alessio Di Fonzo,Alessio Di Fonzo,Christan F. Rohé,Joaquim J. Ferreira,Hsin F. Chien,Laura Vacca,Fabrizio Stocchi,Leonor Correia Guedes,Edito Fabrizio,Mario Manfredi,Nicola Vanacore,Stefano Goldwurm,Guido J. Breedveld,Cristina Sampaio,Giuseppe Meco,Egberto Reis Barbosa,Ben A. Oostra,Vincenzo Bonifati,Vincenzo Bonifati +18 more
TL;DR: Findings confirm the association of LRRK2 with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease.
Journal ArticleDOI
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
Thomas Gasser,Bertram Müller-Myhsok,Zbigniew K. Wszolek,Ralph Oehlmann,Donald B. Calne,Vincenzo Bonifati,Benjamin Bereznai,Edito Fabrizio,Peter Vieregge,Rolf D. Horstmann +9 more
TL;DR: A different genetic locus that appears to be involved in the development of parkinsonism closely resembling sporadic PD is described including a similar mean age of onset (59 years in the families, 59.7 years in sporadic PD; ref. 12).
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.
Journal ArticleDOI
Parkinsonism after Chronic Exposure to the Fungicide Maneb (Manganese ethylene-bis-dithiocarbamate)
TL;DR: Permanent parkinsonism was observed in a man with chronic exposure to the fungicide maneb (manganese ethylene-bis-dithiocarbamate) and symptoms developed at 37 years of age, two years after exposure had ceased.