Zobrazeno 1 - 10
of 604
pro vyhledávání: '"Bonifati V"'
Autor:
Geut, H., Vergouw, L.J.M., Galis, Y., Ingrassia, A., de Jong, F.J., Quadri, M., Bonifati, V., Lemstra, A.W., Rozemuller, A.J.M., van de Berg, W.D.J.
Publikováno v:
In Parkinsonism and Related Disorders June 2019 63:162-168
Publikováno v:
In Parkinsonism and Related Disorders August 2023 113 Supplement
Autor:
Scott, William K., Stajich, Jeffrey M., Yamaoka, Larry H., Speer, Marcy C., Vance, Jeffery M., Roses, Allen D., Pericak-Vance, Margaret A., Gasser, T., Müller-Myhsok, B., Wszolek, Z. K., Dürr, A., Vaughan, J. R., Bonifati, V., Meco, G., Bereznai, B., Oehlmann, R., Agid, Y., Brice, A., Wood, N., Polymeropoulos, Michael H.
Publikováno v:
Science, 1997 Jul . 277(5324), 387-389.
Externí odkaz:
https://www.jstor.org/stable/2892868
GBA-Related Parkinson’s Disease:Dissection of Genotype–Phenotype Correlates in a LargeItalian Cohort
Autor:
Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., Valente, E. M., Altavista, M. C., Amboni, M., Ardolino, G., Berardelli, A., Cogiamanian, F., Colosimo, C., Costanti, D., De Michele, G., Bonaventura, C. D., Di Lazzaro, G., Di Lazzaro, V., Emanuele Elia, A., Erro, R., Ferrazzano, G., Guerra, A., Ialongo, T., Malaguti, M. C., Melis, M., Moro, E., Oppo, V., Ottaviani, D., Peluso, S., Quadri, M. L., Romito, L. M., Sarchioto, M., Schirinzi, T., Sorbera, C., Stefani, A., Thomas, A., Valente, M. L., Volpe, G, ITA-GENE-PD Study, Group.
Publikováno v:
Movement Disorders, 35(11), 2106-2111. John Wiley & Sons Inc.
BACKGROUND Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. OBJECTIVES We determined the frequency of GBA-related PD in Italy and corr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15201de07228c517e94cdeb076d6fa07
http://hdl.handle.net/11588/814735
http://hdl.handle.net/11588/814735
Publikováno v:
In Parkinsonism and Related Disorders 2010 16(4):237-242
Autor:
Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., Valente, E. M.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3686::64dbdf18fee0f670d444c562b131beba
http://hdl.handle.net/11573/1433077
http://hdl.handle.net/11573/1433077
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
This article reviews and summarizes 200 years of Parkinson's disease. It comprises a relevant history of Dr. James Parkinson's himself and what he described accurately and what he missed from today's perspective. Parkinson's disease today is understo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::e164058ccab1b44e2108fea05343b268
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2998247
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2998247
Mutations in the transmembrane protein 230 (TMEM230) gene were recently identified in a large Canadian pedigree and 7 smaller Chinese families, nominating TMEM230 as the third gene causing a Mendelian form of late onset Parkinson's disease (PD) with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::1f62aacb1324c077a6b4440589a4e017
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2998272
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2998272
Autor:
Obeso, J.A., Stamelou, M., Goetz, C.G., Poewe, W., Lang, A.E., Weintraub, D., Burn, D., Halliday, G.M., Bezard, E., Przedborski, S., Lehericy, S., Brooks, D.J., Rothwell, J.C., Hallett, M., DeLong, M.R., Marras, C., Tanner, C.M., Ross, G.W., Langston, J.W., Klein, C., Bonifati, V., Jankovic, J., Lozano, A.M., Deuschl, G., Bergman, H., Tolosa, E., Rodriguez-Violante, M., Fahn, S., Postuma, R.B., Berg, D., Marek, K., Standaert, D.G., Surmeier, D.J., Olanow, C.W., Kordower, J.H., Calabresi, P., Schapira, A.H.V., Stoessl, A.J.
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Obeso, J A, Stamelou, M, Goetz, C G, Poewe, W, Lang, A E, Weintraub, D, Burn, D, Halliday, G M, Bezard, E, Przedborski, S, Lehericy, S, Brooks, D J, Rothwell, J C, Hallett, M, DeLong, M R, Marras, C, Tanner, C M, Ross, G W, Langston, J W, Klein, C, Bonifati, V, Jankovic, J, Lozano, A M, Deuschl, G, Bergman, H, Tolosa, E, Rodriguez-Violante, M, Fahn, S, Postuma, R B, Berg, D, Marek, K, Standaert, D G, Surmeier, D J, Olanow, C W, Kordower, J H, Calabresi, P, Schapira, A H V & Stoessl, A J 2017, ' Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy ', Movement Disorders, vol. 32, no. 9, pp. 1264-1310 . https://doi.org/10.1002/mds.27115
Movement Disorders, 32(9), 1264-1310. John Wiley & Sons Inc.
Movement disorders : official journal of the Movement Disorder Society, vol 32, iss 9
Consejería de Sanidad de la Comunidad de Madrid
Obeso, J A, Stamelou, M, Goetz, C G, Poewe, W, Lang, A E, Weintraub, D, Burn, D, Halliday, G M, Bezard, E, Przedborski, S, Lehericy, S, Brooks, D J, Rothwell, J C, Hallett, M, DeLong, M R, Marras, C, Tanner, C M, Ross, G W, Langston, J W, Klein, C, Bonifati, V, Jankovic, J, Lozano, A M, Deuschl, G, Bergman, H, Tolosa, E, Rodriguez-Violante, M, Fahn, S, Postuma, R B, Berg, D, Marek, K, Standaert, D G, Surmeier, D J, Olanow, C W, Kordower, J H, Calabresi, P, Schapira, A H V & Stoessl, A J 2017, ' Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy ', Movement Disorders, vol. 32, no. 9, pp. 1264-1310 . https://doi.org/10.1002/mds.27115
Movement Disorders, 32(9), 1264-1310. John Wiley & Sons Inc.
Movement disorders : official journal of the Movement Disorder Society, vol 32, iss 9
This article reviews and summarizes 200 years of Parkinson's disease. It comprises a relevant history of Dr. James Parkinson's himself and what he described accurately and what he missed from today's perspective. Parkinson's disease today is understo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e4ae9512ac2d3469563f114f6b64b75b
https://repositoriosaludmadrid.es/handle/20.500.12530/30499
https://repositoriosaludmadrid.es/handle/20.500.12530/30499