Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Fincati, E"'
Autor:
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 V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, 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, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M., CORTELLI, PIETRO, CAPELLARI, SABINA
Publikováno v:
Brain, 137, 1361-1373
Wong, T H, Chiu, W Z, Breedveld, G J, Li, K W, Verkerk, A J, Hondius, D C, Hukema, R K, Seelaar, H, Frick, P, Severijnen, L A, Lammers, G J, Lebbink, J, van Duinen, S G, Kamphorst, W, Rozemuller, A J M, Bakker, E B, Neumann, M, Willemsen, R, Bonifati, V, Smit, A B & van Swieten, J C 2014, ' PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology ', Brain, vol. 137, no. 5, pp. 1361-1373 . https://doi.org/10.1093/brain/awu067
Brain, 137(5), 1361-1373. Oxford University Press
Brain, 137, 1361-1373. Oxford University Press
Brain: a journal of neurology, 137(Pt 5), 1361-73. Oxford University Press
Brain 137(5), 1361-1373 (2014). doi:10.1093/brain/awu067
Wong, T H, Chiu, W Z, Breedveld, G J, Li, K W, Verkerk, A J, Hondius, D C, Hukema, R K, Seelaar, H, Frick, P, Severijnen, L A, Lammers, G J, Lebbink, J, van Duinen, S G, Kamphorst, W, Rozemuller, A J M, Bakker, E B, Neumann, M, Willemsen, R, Bonifati, V, Smit, A B & van Swieten, J C 2014, ' PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology ', Brain, vol. 137, no. 5, pp. 1361-1373 . https://doi.org/10.1093/brain/awu067
Brain, 137(5), 1361-1373. Oxford University Press
Brain, 137, 1361-1373. Oxford University Press
Brain: a journal of neurology, 137(Pt 5), 1361-73. Oxford University Press
Brain 137(5), 1361-1373 (2014). doi:10.1093/brain/awu067
Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong and Chiu et al. identify a new familial neurodegenerative disease with intermediate filament
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377f
https://doi.org/10.1093/brain/awu067
https://doi.org/10.1093/brain/awu067
Autor:
Bonifati V., Rohe C. F., Breedveld G. J., Fabrizio E., De Mari M., Tassorelli C., Tavella A., Marconi R., Nicholl D. J., Chien H. F., Fincati E., Abbruzzese G., Marini P., De Gaetano A., Horstink M. W., Maat Kievit J. A., Sampaio C., Antonini A., Stocchi F., 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 B.A., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE
Publikováno v:
Neurology, 65, 87-95
Neurology, 65, 1, pp. 87-95
Neurology, 65(1), 87-95. Lippincott Williams & Wilkins
Neurology, 65, 1, pp. 87-95
Neurology, 65(1), 87-95. Lippincott Williams & Wilkins
Item does not contain fulltext OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8a2828c43dbbcbdf7062ec15cf7e25
https://hdl.handle.net/2066/48716
https://hdl.handle.net/2066/48716
Publikováno v:
In Clinical Neurophysiology 1999 110(2):358-366
Autor:
Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G. J., Simons E. J., Chien H. F., Ferreira J. J., Horstink M. W., Abbruzzese G., Borroni B., Cossu G., Dalla Libera A., Fabbrini G., Guidi M., De Mari M., Lopiano L., Martignoni E., Marini P., Onofrj M., Padovani A., Stocchi F., Toni V., Sampaio C., Barbosa E. R., Meco G., Italian Parkinson Genetics Network, Oostra B. A, Bonifati V., MONTAGNA, PASQUALE
Publikováno v:
Parkinsonism & Related Disorders, 15(9), 703-705. Elsevier
Mutations in the Grb10-interacting GYF protein 2 (GIGYF2) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in Italian and French populations. By sequencing the whole GIGYF2 coding region in forty-six probands (thir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17fdb464d00ace9f56097edf374375d9
https://pubmed.ncbi.nlm.nih.gov/19482505
https://pubmed.ncbi.nlm.nih.gov/19482505
Autor:
Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Antonini, A, Oostra BA, Bonifati V.
Publikováno v:
Neurology, 68(19), 1557-1562. Lippincott Williams & Wilkins
To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD).We studied 46 patients, mostly from Ital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32892b6ce802f30bac6081a3b6af30f4
http://hdl.handle.net/11585/45636
http://hdl.handle.net/11585/45636
Autor:
Bertoli Avella A. M., Giroud Benitez J. L., Akyol A., Barbosa E., Schaap O., van der Linde H. C., Martignoni E., Lopiano L., Lamberti P., Fincati E., Antonini A., Stocchi F., Squitieri F., Marini P., Abbruzzese G., Fabbrini G., Marconi R., Dalla Libera A., Trianni G., Guidi M., De Gaetano A., Boff Maegawa G., De Leo A., Gallai V., de Rosa G., Vanacore N., Meco G., Van Duijn C. M., Oostra B. A., Heutink P., Bonifati V., Italian Parkinson Genetics Network, MONTAGNA, PASQUALE
Publikováno v:
Movement Disorders, 20(4), 424-431. John Wiley and Sons Inc.
Movement Disorders, 20(4), 424-431. John Wiley & Sons Inc.
Bertoli-Avella, A M, Giroud-Benitez, J L, Akyol, A, Barbosa, E, Schaap, O, van der Linde, H C, Martignoni, E, Lopiano, L, Lamberti, P, Fincati, E, Antonini, A, Stocchi, F, Montagna, P, Squitieri, F, Marini, P, Abbruzzese, G, Fabbrini, G, Marconi, R, Dalla Libera, A, Trianni, G, Guidi, M, de Gaetano, A, Boff Maegawa, G, de Leo, A, Gallai, V, de Rosa, G, Vanacore, N, Meco, G, van Duijn, C M, Oostra, B A, Heutink, P & Bonifati, V 2005, ' Novel parkin mutations detected in patients with early-onset Parkinson's disease ', Movement Disorders, vol. 20, no. 4, pp. 424-431 . https://doi.org/10.1002/mds.20343
Movement Disorders, 20(4), 424-431. John Wiley & Sons Inc.
Bertoli-Avella, A M, Giroud-Benitez, J L, Akyol, A, Barbosa, E, Schaap, O, van der Linde, H C, Martignoni, E, Lopiano, L, Lamberti, P, Fincati, E, Antonini, A, Stocchi, F, Montagna, P, Squitieri, F, Marini, P, Abbruzzese, G, Fabbrini, G, Marconi, R, Dalla Libera, A, Trianni, G, Guidi, M, de Gaetano, A, Boff Maegawa, G, de Leo, A, Gallai, V, de Rosa, G, Vanacore, N, Meco, G, van Duijn, C M, Oostra, B A, Heutink, P & Bonifati, V 2005, ' Novel parkin mutations detected in patients with early-onset Parkinson's disease ', Movement Disorders, vol. 20, no. 4, pp. 424-431 . https://doi.org/10.1002/mds.20343
A multiethnic series of patients with early-onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype-genotype relationships. Forty-six EOP probands with an onset age of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdbce8954b55300f3726497776ea5e1
https://pubmed.ncbi.nlm.nih.gov/15584030
https://pubmed.ncbi.nlm.nih.gov/15584030
Autor:
Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Italian Parkinson Genetics Network, Oostra, Ba, CollaboratorsBonifati V, Bonifati V., Giraudo, S, Tassorelli, C, Pacchetti, C, Nappi, G, Riboldazzi, G, Bono, GIORGIO GIOVANNI, Raudino, F, Manfredi, M, Bonizzato, A, Ferracci, C, Marchese, R, Montagna, P, Massaro, F, Minardi, C, Rasi, F, Vanacore, N, Berardelli, A, Vacca, L, De Pandis, F, Dell'Aquila, C, Iliceto, G, Lamberti, P, Trianni, G, Mauro, A, De Gaetano, A, Rizzo, M, Cossu, G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3660::ab79dad84bcb136d454e581cf6bd90c6
http://hdl.handle.net/11383/1715871
http://hdl.handle.net/11383/1715871
Autor:
Defazio, G, Berardelli, A, Fabbrini, G, Martino, D, Fincati, E, Fiaschi, A, Moretto, G, Abbruzzese, Giovanni, Marchese, R, Bonuccelli, U, DEL DOTTO, P, Barone, P, DE VIVO, E, Albanese, A, Antonimi, A, Canesi, M, Lopiano, L, Zibetti, M, Nappi, G, Martignoni, E, Lamberti, P, Tinazzi, M.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::4026a7cb088c0b2cdacd054f84cc8d9d
http://hdl.handle.net/11567/217231
http://hdl.handle.net/11567/217231
Autor:
Defazio, G, Berardelli, A, Fabbrini, G, Martino, D, Fincati, E, Fiaschi, A, Moretto, G, Abbruzzese, G, Marchese, R, Bonuccelli, Ubaldo, Del Dotto, P, Barone, P, De Vivo, E, Albanese, A, Antonini, A, Canesi, M, Lopiano, L, Nappi, G, Martignoni, E, Lamberti, P, Tinazzi, M.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3728::c1d2a1a649acebb4c61d49567f6f488d
http://hdl.handle.net/11568/126658
http://hdl.handle.net/11568/126658
Autor:
Alessio Di Fonzo, Chien, H., Socal, M., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, G., Marconi, R., Fincati, E., Abruzzese, G., Marini, P., Squitieri, F., Horstink, M. W. I. M., Montagna, P., Dalla Libera, A., Stocchi, F., Goldwurm, S., Ferreira, J., Meco, G., Martignoni, E., Lopiano, L., Jardim, L., Oostra, B. A., Barbosa, E., Bonifati, V.
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d8e7a5d6e956602868d81c8f4cefb1f0
http://hdl.handle.net/2318/118548
http://hdl.handle.net/2318/118548