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302 results

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Page 1
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.
Bonifati V, Joosse M, Nicholl DJ, Vanacore N, Bennett P, Rizzu P, Fabbrini G, Marconi R, Colosimo C, Locuratolo N, Stocchi F, Bonuccelli U, De Mari M, Wenning G, Vieregge P, Oostra B, Meco G, Heutink P. Bonifati V, et al. Among authors: marconi r. Neurosci Lett. 1999 Oct 15;274(1):61-5. doi: 10.1016/s0304-3940(99)00669-2. Neurosci Lett. 1999. PMID: 10530520
Epidemiology of progressive supranuclear palsy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Vanacore N, Bonifati V, Colosimo C, Fabbrini G, De Michele G, Marconi R, Nicholl D, Locuratolo N, Romano S, Talarico G, Stocchi F, Bonuccelli U, Lamberti P, Vieregge P, Meco G; European Study Group on Atypical Parkinsonism (ESGAP). Vanacore N, et al. Among authors: marconi r. Neurol Sci. 2001 Feb;22(1):101-3. doi: 10.1007/s100720170065. Neurol Sci. 2001. PMID: 11487180
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Bonifati V, De Michele G, Lücking CB, Dürr A, Fabrizio E, Ambrosio G, Vanacore N, De Mari M, Marconi R, Capus L, Breteler MM, Gasser T, Oostra B, Wood N, Agid Y, Filla A, Meco G, Brice A; Italian PD Genetics Study Group, French PD Genetics Study Group, European Consortium on Genetic Susceptibility in PD. Bonifati V, et al. Among authors: marconi r. Neurol Sci. 2001 Feb;22(1):51-2. doi: 10.1007/s100720170042. Neurol Sci. 2001. PMID: 11487197
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network. Bonifati V, et al. Among authors: marconi r. Neurology. 2005 Jul 12;65(1):87-95. doi: 10.1212/01.wnl.0000167546.39375.82. Neurology. 2005. PMID: 16009891
Case-control study of multiple system atrophy.
Vanacore N, Bonifati V, Fabbrini G, Colosimo C, De Michele G, Marconi R, Stocchi F, Nicholl D, Bonuccelli U, De Mari M, Vieregge P, Meco G; ESGAP Consortium. Vanacore N, et al. Among authors: marconi r. Mov Disord. 2005 Feb;20(2):158-63. doi: 10.1002/mds.20303. Mov Disord. 2005. PMID: 15382209
Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Vanacore N, Bonifati V, Fabbrini G, Colosimo C, De Michele G, Marconi R, Nicholl D, Locuratolo N, Talarico G, Romano S, Stocchi F, Bonuccelli U, De Mari M, Vieregge P, Meco G; European Study Group on Atypical Parkinsonism (ESGAP). Vanacore N, et al. Among authors: marconi r. Neurol Sci. 2001 Feb;22(1):97-9. doi: 10.1007/s100720170064. Neurol Sci. 2001. PMID: 11487219
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
Bonifati V, Dekker MC, Vanacore N, Fabbrini G, Squitieri F, Marconi R, Antonini A, Brustenghi P, Dalla Libera A, De Mari M, Stocchi F, Montagna P, Gallai V, Rizzu P, van Swieten JC, Oostra B, van Duijn CM, Meco G, Heutink P; Italian Parkinson Genetics Network. Bonifati V, et al. Among authors: marconi r. Neurol Sci. 2002 Sep;23 Suppl 2:S59-60. doi: 10.1007/s100720200069. Neurol Sci. 2002. PMID: 12548343
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network; Bonifati V. Di Fonzo A, et al. Among authors: marconi r. Neurology. 2007 May 8;68(19):1557-62. doi: 10.1212/01.wnl.0000260963.08711.08. Neurology. 2007. PMID: 17485642
302 results