B
Bonifati
Researcher at Sapienza University of Rome
Publications - 4
Citations - 1894
Bonifati is an academic researcher from Sapienza University of Rome. The author has contributed to research in topics: Parkin & Age of onset. The author has an hindex of 3, co-authored 4 publications receiving 1803 citations.
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Journal ArticleDOI
Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
C. B. Lücking,Alexandra Durr,Bonifati,J. R. Vaughan,G. De Michele,Thomas Gasser,Biswadjiet S. Harhangi,Giuseppe Meco,Patrice Denefle,Nicholas W. Wood,Yves Agid,Alexis Brice,French Parkinsons Dis Genetics Stu +12 more
TL;DR: Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-ONSet Parkinson's Disease and accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease.
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.
French Parkinson's Disease Genetics Study Group are Y. Agid,
Michel Borg,Alexis Brice,Emmanuel Broussolle,P. Damier,F. Durif,Ebba Lohmann,Mireia Martinez,C. Penet,Pierre Pollak,O. Rascol,François Tison,Christine Tranchant,M. Vidailhet,Suzanne Lesage,Anne-Louise Leutenegger,Pablo Ibanez,Sabine Janin,Ebba Lohmann,A Brice,William P. Gilks,Patrick M. Abou-Sleiman,Gandhi S,Shushant Jain,AB Singleton,AJ Lees,K Shaw,Bonifati,Lynch J,Holton Jl +28 more
Journal Article
Erratum: Complex relationship between Parkin mutations and Parkinson disease (American Journal of Medical Genetics-Neuropsychocetric (2002) 114-(584-591))
Andrew B. West,Magali Periquet,Sarah Lincoln,Christoph B. Lücking,David Nicholl,Bonifati,Nina Rawal,T. Gasser,Ebba Lohmann,Jean-Francois Deleuze,Demetrius M. Maraganore,Allan I. Levey,Nicholas W. Wood,Alexandra Durr,John Hardy,Alexis Brice,Matthew J. Farrer +16 more