BONIFATI, Vincenzo
BONIFATI, Vincenzo
SCIENZE NEUROLOGICHE (attivo dal 01/01/1900 al 30/06/2010)
A frequent LRRK2 gene mutation associated with autosomal dominat Parkinson's disease
2005 DI FONZO, A; Rohe, Cf; Ferreira, J; Chien, Hf; Vacca, L; Stocchi, F; Guedes, L; Fabrizio, E; Manfredi, Mario; Vanacore, Nicola; Goldwurm, S; Breedveld, G; Sampaio, C; Meco, Giuseppe; Barbosa, E; Oostra, Ba; Bonifati, Vincenzo; ITALIAN PARKINSON GENETICS, Network
A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.
2007 Fabbrini, Giovanni; Pasquini, M; Aurilia, Cinzia; Berardelli, Isabella; Breedveld, G; Oostra, Ba; Bonifati, Vincenzo; Berardelli, Alfredo
Autosomal recessive esrly onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7
2002 Bonifati, Vincenzo; M. C. J., Dekker; Vanacore, Nicola; Fabbrini, Giovanni; F., Squitieri; R., Marconi; A., Antonini; P., Brustenghi; A., DALLA LIBERA; M., DE MARI; F., Stocchi; P., Montagna; V., Gallai; P., Rizzu; J. C., VAN SWIETEN; B., Oostra; C. M., VAN DUIJN; Meco, Giuseppe; P., Heutink; THE ITALIAN PARKINSON GENETICS, Network
biological effects of the PINK 1 c.1366>T mutation:implications in Parkinson's disease pathogenesis.
2007 Grunewald, A; Breedveld, Gj; LOHMANN HEDRICH, K; Rohe, Cf; Konig, Ir; Hagenah, J; Vanacore, Nicola; Meco, Giuseppe; Antonini, A; Goldwurm, S; Lesage, S; Durr, A; Binkofski, F; Siebner, H; Munchau, A; Brice, A; Oostra, Ba; Klein, C; Bonifati, Vincenzo
DJ-1(Park-7), a novel gene for autosomal recessive, early onset parkinsonism
2003 Bonifati, Vincenzo; Rizu, P; Squitiri, F; Krieger, E; Vanacore, Nicola; VAN SWIETEN, Jc; Brice, A; VAN DUIJN, Cm; Oostra, B; Meco, Giuseppe; Heutink, P.
Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms
2001 Vanacore, Nicola; Bonifati, Vincenzo; Fabbrini, Giovanni; Colosimo, Carlo; G., De Michele; R., Marconi; D., Nicholl; Locuratolo, Nicoletta; Talarico, Giuseppina; Romano, Silvia; F., Stocchi; Meco, Giuseppe; Bonuccelli, U; DE MARI, GUIDO MARIA; Vieregge, P
Epidemiology of progressive supranuclear palsy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms
2001 Vanacore, Nicola; Bonifati, Vincenzo; Colosimo, Carlo; Fabbrini, Giovanni; De Michele, G; Marconi, R; Nicholl, D; Locuratolo, Nicoletta; Romano, Silvia; Talarico, Giuseppina; Stocchi, F; Bonuccelli, U; Lamberti, P; Vieregge, P; Meco, Giuseppe
Evaluation of risk of Parkinson's disease in a cohort of licensed pesticide users
2002 Vanacore, Nicola; Nappo, A.; Gentile, M.; Brustolin, A.; Palange, S.; Liberati, A.; DI REZZE, Simone; Caldora, G.; Gasparini, Marina; Bonifati, Vincenzo; Quercia, A.; Meco, Giuseppe
Genome-wide dcsn linkage analysis for Parkinso's disease:the European genetics study of parkinson's disease
2004 Martinez, M; Brice, A; Vaughan, Jr; Zimprich, A; Breteler, Mm; Meco, Giuseppe; Filla, A; Farrer, Mj; Betard, C; Hardy, J; DE MICHELE, G; Bonifati, Vincenzo; Oostra, B; Gasser, T; Wood, Nw; Durr, A; FRENCH PARKINSON'S DISEASE GENETICS STUDY, Group; EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease
How much phenotypic variation can be attribuited to parkin genotype?
2003 Lohmann, E; Periquet, M; Bonifati, Vincenzo; Meco, Giuseppe; FRENCH PARKINSON'S DISEASE GENETICS STUDY, Group; CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
2002 Bonifati, Vincenzo; G. J., Breedvelt; A., Squitieri; Vanacore, Nicola; Pierluigi, Brustenghi; Biswadjiet S., Harhangi; Pasquale, Montagna; Milena, Cannella; Fabbrini, Giovanni; Patrizia, Rizzu; Meco, Giuseppe; Peter, Heutink
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
2013 Quadri, M; Fang, M; Picillo, M; Olgiati, S; Breedveld, Gj; Graafland, J; Wu, B; Xu, F; Erro, R; Amboni, M; Pappatà, S; Quarantelli, M; Annesi, G; Quattrone, A; Chien, Hf; Barbosa, Er; Oostra, Ba; Barone, P; Wang, J; Bonifati, Vincenzo; International Parkinsonism Genetics NetworkBonifati, V; Maat Kievit, A; Rood, J; Boon, A; van de Warrenburg, B; Delnooz, C; Rietveld, A; Bloem, B; Ferreira, J; Correia Guedes, L; Tolosa, E; Janssens, S; Emre, M; Hanagasi, H; Bilgic, B; Elibol, B; Socal, M; Jardim, L; Chien, Hf; Barbosa, Er; Lu, Cs; Wu Chou, Yh; Yeh, Th; Atadzhanov, M; Kelly, P; Lopiano, L; Tassorelli, C; Pacchetti, C; Nappi, G; Riboldazzi, G; Bono, G; Padovani, A; Borroni, B; Raudino, F; Di Fonzo, A; Volonte, A; Fincati, E; Bertolasi, L; Tinazzi, M; Bonizzato, A; Ferracci, C; Dalla Libera, A; Cortelli, P; Capellari, S; Marini, P; Massaro, F; Federico, A; Taglia, I; Battisti, C; Marconi, R; Onofrj, M; Thomas, A; Vanacore, Nicola; Meco, Giuseppe; Fabbrini, Giovanni; Fabrizio, E; Manfredi, Mario; Berardelli, Alfredo; Stocchi, F; Vacca, L; De Michele, G; Criscuolo, C; Santoro, L; Filla, A; De Mari, M; Dell, C; Iliceto, G; Lamberti, P; Toni, V; Trianni, G; Gagliardi, M; Annesi, G; Quattrone, A; Saddi, V; Francesco, S; Saddi, V; Cossu, G; Melis, M.
MUTATIONS IN THE DJ-1 GENE ASSOCIATED WITH AUTOSOMAL RECESSIVE EARLY-PARKINSONISM
2003 Bonifati, Vincenzo; P., Rizzu; M. J., VAN BAREN; O., Shaap; G. J., Breedveld; E., Krieger; M. C. J., Dekker; F., Squitieri; Meco, Giuseppe; C. M., VAN DUIJN; B. A., Oostra; P., Heutink
Novel parkin mutations detected in patients with early-onset Parkinson's disease
2005 BERTOLI AVELLA, Am; GIROUD BENITEZ, Jl; Akyol, A; Barbosa, E; Schaap, O; VAN DER LINDE, Hc; Martignoni, E; Lopiano, L; Lamberti, P; Fincati, E; Antonini, A; Stocchi, F; Montagna, P; Squitieri, F; Marini, P; Abbruzzese, G; Fabbrini, Giovanni; Marconi, R; DALLA LIBERA, A; Trianni, G; Guidi, M; DE GAETANO, A; BOFF MAEGAWA, G; DE LEO, A; Gallai, V; DE ROSA, G; Vanacore, Nicola; Meco, Giuseppe; VAN DUIJN, Cm; Oostra, Ba; Heutink, P; Bonifati, Vincenzo; ITALIAN PARKINSON GENETICS, Network
Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects
2001 Magali, Periquet; Christoph B., Lucking; Jenny R., Vaughan; Bonifati, Vincenzo; Alexandra, Durr; Giuseppe De, Michele; Martin W., Horstink; Matt, Farrer; Sergei N., Illarioshkin; Pierre, Pollak; Michel, Borg; Meco, Giuseppe
PARK11 is not linked with Parkinson's disease in European families
2005 Jurgen, Prestel; Manu, Sharma; Petra, Leitner; Alexander, Zimprich; Jenny R., Vaughan; Alexandra, Durr; Bonifati, Vincenzo; Giuseppe De, Michele; Hasmet A., Hanagasi; Matthew, Farrer; Anne, Hofer; Friedrich, Asmus; Giampiero, Volpe; Meco, Giuseppe; Alexis, Brice; Nicholas W., Wood; Bertram Muller, Myhsok; Thomas, Gasser; I. N., Parkinson'S Disease Gspd European Consortium On Genetic Susceptibility
PARK6-Linked Parkinsonism Occurs in Several European Families
2002 Valente, Em; F., Brancati; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mm; Gasser, T; Bonifati, Vincenzo; Bentivoglio, Ar; DE MICHELE, G; Durr, A; Cortelli, P; Wassilowsky, D; Harhangi, Bs; Rawal, N; Caputo, Viviana; Filla, A; Meco, Giuseppe; Oostra, Ba; Brice, A; Albanese, A; DALLA PICCOLA, Bruno; Wood, Nw; EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
2008 Daniel G., Healy; Mario, Falchi; Sean S., O'Sullivan; Bonifati, Vincenzo; Alexandra, Durr; Susan, Bressman; Alexis, Brice; Jan, Aasly; Cyrus P., Zabetian; Stefano, Goldwurm; Joaquim J., Ferreira; Eduardo, Tolosa; Denise M., Kay; Christine, Klein; David R., Williams; Connie, Marras; Anthony E., Lang; Zbigniew K., Wszolek; Jose, Berciano; Anthony H. V., Schapira; Timothy, Lynch; Kailash P., Bhatia; Thomas, Gasser; Andrew J., Lees; Nicholas W., Wood; International Lrrk, Consortium; Collaborators, ; M., Tazir; F., Ysmail Dahlouk; S., Belarbi; N., Hecham; E., Barbosa; H. F., Chien; C. R., Rieder; L. B., Jardim; E., Rogaeva; S., Lesage; E., Lohmann; M., Vidailhet; A. M., Bonnet; Y., Agid; P., Pollak; F., Tison; F., Durif; E., Broussolle; D., Berg; J., Hagenah; D., Gosal; M., Gibson; Vanacore, Nicola; Berardelli, Alfredo; Fabbrini, Giovanni; E., Fabrizio; Meco, Giuseppe; F., Stocchi; A., Dalla Libera; M., De Mari; P., Lamberti; G., Cossu; G., Pezzoli; M., Zini; S., Tesei; A., Zecchinelli; F., Sironi; A., Antonini; C., Mariani; G., Sacilotto; N., Meucci; M., Canesi; A., Di Fonzo; B., Oostra; L., Correia Guedes; Rosa, Mm; M., Coelho; C., Sampaio; C., Gaig; C. S., Lu; Y. H., Wu Chou; N. P., Quinn; P. M., Abou Sleiman; M. M., Muqit; N. L., Khan; S., Gandhi; J., Vaughan; H., Payami; J. J., Nutt; S. A., Factor; D. S., Higgins; M. J., Farrer; M., Hulihan; L., Brown; I. F., Mata; A., Samii; D., Yearout; A., Griffith; B. C., Leis; J. W., Roberts
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
2014 Wong, Th; Chiu, Wz; Breedveld, Gj; Li, Kw; Verkerk, Aj; Hondius, D; Hukema, Rk; Seelaar, H; Frick, P; Severijnen, La; Lammers, Gj; Lebbink, Jh; van Duinen, Sg; Kamphorst, W; Rozemuller, Aj; Bakker, Eb; Neumann, M; Willemsen, R; Bonifati, Vincenzo; Smit, Ab; van Swieten, J; Netherlands Brain, Bank; International Parkinsonism Genetics NetworkBonifati, V; Breedveld, Gj; Ferreira, J; Correia Guedes, L; Chien, Hf; Barbosa, Er; Merola, A; Zibetti, M; Lopiano, L; Tassorelli, C; Pacchetti, C; Nappi, G; Riboldazzi, G; Bono, G; Padovani, A; Borroni, B; Fincati, E; Bertolasi, L; Tinazzi, M; Bonizzato, A; Dalla Libera, A; Cortelli, P; Capellari, S; Guidi, M; Marini, P; Massaro, F; Marconi, R; Onofrj, M; Thomas, A; Vanacore, Nicola; Meco, Giuseppe; Fabbrini, Giovanni; Fabrizio, E; Manfredi, Mario; Berardelli, Alfredo; Stocchi, F; Vacca, L; De Mari, M; Dell'Aquila, C; Iliceto, G; Lamberti, P; Toni, V; Trianni, G; Saddi, V; Cossu, G; Melis, M.
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family
2016 Quadri, Marialuisa; Olgiati, Simone; Sensi, Mariachiara; Gualandi, Francesca; Groppo, Elisabetta; Rispoli, Vittorio; Graafland, Josja; Breedveld, Guido J.; Fabbrini, Giovanni; Berardelli, Alfredo; Bonifati, Vincenzo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A frequent LRRK2 gene mutation associated with autosomal dominat Parkinson's disease | 2005 | DI FONZO, A; Rohe, Cf; Ferreira, J; Chien, Hf; Vacca, L; Stocchi, F; Guedes, L; Fabrizio, E; Manfredi, Mario; Vanacore, Nicola; Goldwurm, S; Breedveld, G; Sampaio, C; Meco, Giuseppe; Barbosa, E; Oostra, Ba; Bonifati, Vincenzo; ITALIAN PARKINSON GENETICS, Network | |
| A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene. | 2007 | Fabbrini, Giovanni; Pasquini, M; Aurilia, Cinzia; Berardelli, Isabella; Breedveld, G; Oostra, Ba; Bonifati, Vincenzo; Berardelli, Alfredo | |
| Autosomal recessive esrly onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7 | 2002 | Bonifati, Vincenzo; M. C. J., Dekker; Vanacore, Nicola; Fabbrini, Giovanni; F., Squitieri; R., Marconi; A., Antonini; P., Brustenghi; A., DALLA LIBERA; M., DE MARI; F., Stocchi; P., Montagna; V., Gallai; P., Rizzu; J. C., VAN SWIETEN; B., Oostra; C. M., VAN DUIJN; Meco, Giuseppe; P., Heutink; THE ITALIAN PARKINSON GENETICS, Network | |
| biological effects of the PINK 1 c.1366>T mutation:implications in Parkinson's disease pathogenesis. | 2007 | Grunewald, A; Breedveld, Gj; LOHMANN HEDRICH, K; Rohe, Cf; Konig, Ir; Hagenah, J; Vanacore, Nicola; Meco, Giuseppe; Antonini, A; Goldwurm, S; Lesage, S; Durr, A; Binkofski, F; Siebner, H; Munchau, A; Brice, A; Oostra, Ba; Klein, C; Bonifati, Vincenzo | |
| DJ-1(Park-7), a novel gene for autosomal recessive, early onset parkinsonism | 2003 | Bonifati, Vincenzo; Rizu, P; Squitiri, F; Krieger, E; Vanacore, Nicola; VAN SWIETEN, Jc; Brice, A; VAN DUIJN, Cm; Oostra, B; Meco, Giuseppe; Heutink, P. | |
| Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms | 2001 | Vanacore, Nicola; Bonifati, Vincenzo; Fabbrini, Giovanni; Colosimo, Carlo; G., De Michele; R., Marconi; D., Nicholl; Locuratolo, Nicoletta; Talarico, Giuseppina; Romano, Silvia; F., Stocchi; Meco, Giuseppe; Bonuccelli, U; DE MARI, GUIDO MARIA; Vieregge, P | |
| Epidemiology of progressive supranuclear palsy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms | 2001 | Vanacore, Nicola; Bonifati, Vincenzo; Colosimo, Carlo; Fabbrini, Giovanni; De Michele, G; Marconi, R; Nicholl, D; Locuratolo, Nicoletta; Romano, Silvia; Talarico, Giuseppina; Stocchi, F; Bonuccelli, U; Lamberti, P; Vieregge, P; Meco, Giuseppe | |
| Evaluation of risk of Parkinson's disease in a cohort of licensed pesticide users | 2002 | Vanacore, Nicola; Nappo, A.; Gentile, M.; Brustolin, A.; Palange, S.; Liberati, A.; DI REZZE, Simone; Caldora, G.; Gasparini, Marina; Bonifati, Vincenzo; Quercia, A.; Meco, Giuseppe | |
| Genome-wide dcsn linkage analysis for Parkinso's disease:the European genetics study of parkinson's disease | 2004 | Martinez, M; Brice, A; Vaughan, Jr; Zimprich, A; Breteler, Mm; Meco, Giuseppe; Filla, A; Farrer, Mj; Betard, C; Hardy, J; DE MICHELE, G; Bonifati, Vincenzo; Oostra, B; Gasser, T; Wood, Nw; Durr, A; FRENCH PARKINSON'S DISEASE GENETICS STUDY, Group; EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease | |
| How much phenotypic variation can be attribuited to parkin genotype? | 2003 | Lohmann, E; Periquet, M; Bonifati, Vincenzo; Meco, Giuseppe; FRENCH PARKINSON'S DISEASE GENETICS STUDY, Group; CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease | |
| Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset | 2002 | Bonifati, Vincenzo; G. J., Breedvelt; A., Squitieri; Vanacore, Nicola; Pierluigi, Brustenghi; Biswadjiet S., Harhangi; Pasquale, Montagna; Milena, Cannella; Fabbrini, Giovanni; Patrizia, Rizzu; Meco, Giuseppe; Peter, Heutink | |
| Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. | 2013 | Quadri, M; Fang, M; Picillo, M; Olgiati, S; Breedveld, Gj; Graafland, J; Wu, B; Xu, F; Erro, R; Amboni, M; Pappatà, S; Quarantelli, M; Annesi, G; Quattrone, A; Chien, Hf; Barbosa, Er; Oostra, Ba; Barone, P; Wang, J; Bonifati, Vincenzo; International Parkinsonism Genetics NetworkBonifati, V; Maat Kievit, A; Rood, J; Boon, A; van de Warrenburg, B; Delnooz, C; Rietveld, A; Bloem, B; Ferreira, J; Correia Guedes, L; Tolosa, E; Janssens, S; Emre, M; Hanagasi, H; Bilgic, B; Elibol, B; Socal, M; Jardim, L; Chien, Hf; Barbosa, Er; Lu, Cs; Wu Chou, Yh; Yeh, Th; Atadzhanov, M; Kelly, P; Lopiano, L; Tassorelli, C; Pacchetti, C; Nappi, G; Riboldazzi, G; Bono, G; Padovani, A; Borroni, B; Raudino, F; Di Fonzo, A; Volonte, A; Fincati, E; Bertolasi, L; Tinazzi, M; Bonizzato, A; Ferracci, C; Dalla Libera, A; Cortelli, P; Capellari, S; Marini, P; Massaro, F; Federico, A; Taglia, I; Battisti, C; Marconi, R; Onofrj, M; Thomas, A; Vanacore, Nicola; Meco, Giuseppe; Fabbrini, Giovanni; Fabrizio, E; Manfredi, Mario; Berardelli, Alfredo; Stocchi, F; Vacca, L; De Michele, G; Criscuolo, C; Santoro, L; Filla, A; De Mari, M; Dell, C; Iliceto, G; Lamberti, P; Toni, V; Trianni, G; Gagliardi, M; Annesi, G; Quattrone, A; Saddi, V; Francesco, S; Saddi, V; Cossu, G; Melis, M. | |
| MUTATIONS IN THE DJ-1 GENE ASSOCIATED WITH AUTOSOMAL RECESSIVE EARLY-PARKINSONISM | 2003 | Bonifati, Vincenzo; P., Rizzu; M. J., VAN BAREN; O., Shaap; G. J., Breedveld; E., Krieger; M. C. J., Dekker; F., Squitieri; Meco, Giuseppe; C. M., VAN DUIJN; B. A., Oostra; P., Heutink | |
| Novel parkin mutations detected in patients with early-onset Parkinson's disease | 2005 | BERTOLI AVELLA, Am; GIROUD BENITEZ, Jl; Akyol, A; Barbosa, E; Schaap, O; VAN DER LINDE, Hc; Martignoni, E; Lopiano, L; Lamberti, P; Fincati, E; Antonini, A; Stocchi, F; Montagna, P; Squitieri, F; Marini, P; Abbruzzese, G; Fabbrini, Giovanni; Marconi, R; DALLA LIBERA, A; Trianni, G; Guidi, M; DE GAETANO, A; BOFF MAEGAWA, G; DE LEO, A; Gallai, V; DE ROSA, G; Vanacore, Nicola; Meco, Giuseppe; VAN DUIJN, Cm; Oostra, Ba; Heutink, P; Bonifati, Vincenzo; ITALIAN PARKINSON GENETICS, Network | |
| Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects | 2001 | Magali, Periquet; Christoph B., Lucking; Jenny R., Vaughan; Bonifati, Vincenzo; Alexandra, Durr; Giuseppe De, Michele; Martin W., Horstink; Matt, Farrer; Sergei N., Illarioshkin; Pierre, Pollak; Michel, Borg; Meco, Giuseppe | |
| PARK11 is not linked with Parkinson's disease in European families | 2005 | Jurgen, Prestel; Manu, Sharma; Petra, Leitner; Alexander, Zimprich; Jenny R., Vaughan; Alexandra, Durr; Bonifati, Vincenzo; Giuseppe De, Michele; Hasmet A., Hanagasi; Matthew, Farrer; Anne, Hofer; Friedrich, Asmus; Giampiero, Volpe; Meco, Giuseppe; Alexis, Brice; Nicholas W., Wood; Bertram Muller, Myhsok; Thomas, Gasser; I. N., Parkinson'S Disease Gspd European Consortium On Genetic Susceptibility | |
| PARK6-Linked Parkinsonism Occurs in Several European Families | 2002 | Valente, Em; F., Brancati; Ferraris, A; Graham, Ea; Davis, Mb; Breteler, Mm; Gasser, T; Bonifati, Vincenzo; Bentivoglio, Ar; DE MICHELE, G; Durr, A; Cortelli, P; Wassilowsky, D; Harhangi, Bs; Rawal, N; Caputo, Viviana; Filla, A; Meco, Giuseppe; Oostra, Ba; Brice, A; Albanese, A; DALLA PICCOLA, Bruno; Wood, Nw; EUROPEAN CONSORTIUM ON GENETIC SUSCEPTIBILITY IN PARKINSON'S, Disease | |
| Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study | 2008 | Daniel G., Healy; Mario, Falchi; Sean S., O'Sullivan; Bonifati, Vincenzo; Alexandra, Durr; Susan, Bressman; Alexis, Brice; Jan, Aasly; Cyrus P., Zabetian; Stefano, Goldwurm; Joaquim J., Ferreira; Eduardo, Tolosa; Denise M., Kay; Christine, Klein; David R., Williams; Connie, Marras; Anthony E., Lang; Zbigniew K., Wszolek; Jose, Berciano; Anthony H. V., Schapira; Timothy, Lynch; Kailash P., Bhatia; Thomas, Gasser; Andrew J., Lees; Nicholas W., Wood; International Lrrk, Consortium; Collaborators, ; M., Tazir; F., Ysmail Dahlouk; S., Belarbi; N., Hecham; E., Barbosa; H. F., Chien; C. R., Rieder; L. B., Jardim; E., Rogaeva; S., Lesage; E., Lohmann; M., Vidailhet; A. M., Bonnet; Y., Agid; P., Pollak; F., Tison; F., Durif; E., Broussolle; D., Berg; J., Hagenah; D., Gosal; M., Gibson; Vanacore, Nicola; Berardelli, Alfredo; Fabbrini, Giovanni; E., Fabrizio; Meco, Giuseppe; F., Stocchi; A., Dalla Libera; M., De Mari; P., Lamberti; G., Cossu; G., Pezzoli; M., Zini; S., Tesei; A., Zecchinelli; F., Sironi; A., Antonini; C., Mariani; G., Sacilotto; N., Meucci; M., Canesi; A., Di Fonzo; B., Oostra; L., Correia Guedes; Rosa, Mm; M., Coelho; C., Sampaio; C., Gaig; C. S., Lu; Y. H., Wu Chou; N. P., Quinn; P. M., Abou Sleiman; M. M., Muqit; N. L., Khan; S., Gandhi; J., Vaughan; H., Payami; J. J., Nutt; S. A., Factor; D. S., Higgins; M. J., Farrer; M., Hulihan; L., Brown; I. F., Mata; A., Samii; D., Yearout; A., Griffith; B. C., Leis; J. W., Roberts | |
| PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. | 2014 | Wong, Th; Chiu, Wz; Breedveld, Gj; Li, Kw; Verkerk, Aj; Hondius, D; Hukema, Rk; Seelaar, H; Frick, P; Severijnen, La; Lammers, Gj; Lebbink, Jh; van Duinen, Sg; Kamphorst, W; Rozemuller, Aj; Bakker, Eb; Neumann, M; Willemsen, R; Bonifati, Vincenzo; Smit, Ab; van Swieten, J; Netherlands Brain, Bank; International Parkinsonism Genetics NetworkBonifati, V; Breedveld, Gj; Ferreira, J; Correia Guedes, L; Chien, Hf; Barbosa, Er; Merola, A; Zibetti, M; Lopiano, L; Tassorelli, C; Pacchetti, C; Nappi, G; Riboldazzi, G; Bono, G; Padovani, A; Borroni, B; Fincati, E; Bertolasi, L; Tinazzi, M; Bonizzato, A; Dalla Libera, A; Cortelli, P; Capellari, S; Guidi, M; Marini, P; Massaro, F; Marconi, R; Onofrj, M; Thomas, A; Vanacore, Nicola; Meco, Giuseppe; Fabbrini, Giovanni; Fabrizio, E; Manfredi, Mario; Berardelli, Alfredo; Stocchi, F; Vacca, L; De Mari, M; Dell'Aquila, C; Iliceto, G; Lamberti, P; Toni, V; Trianni, G; Saddi, V; Cossu, G; Melis, M. | |
| PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family | 2016 | Quadri, Marialuisa; Olgiati, Simone; Sensi, Mariachiara; Gualandi, Francesca; Groppo, Elisabetta; Rispoli, Vittorio; Graafland, Josja; Breedveld, Guido J.; Fabbrini, Giovanni; Berardelli, Alfredo; Bonifati, Vincenzo |