Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Marco Toffoli"'
Autor:
Marco Toffoli, Xiao Chen, Fritz J. Sedlazeck, Chiao-Yin Lee, Stephen Mullin, Abigail Higgins, Sofia Koletsi, Monica Emili Garcia-Segura, Esther Sammler, Sonja W. Scholz, Anthony H. V. Schapira, Michael A. Eberle, Christos Proukakis
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-10 (2022)
Two methods fully resolve the GBA gene: Gauchian, a tool for short-read, whole-genome sequencing data analysis, and Oxford Nanopore sequencing after PCR enrichment. The approach improves our understanding of the relationship between GBA, Gaucher dise
Externí odkaz:
https://doaj.org/article/a0746cc364f6419ea69ad609de6e4f87
Autor:
Electra Brunialti, Alessandro Villa, Marco Toffoli, Sara Lucas Del Pozo, Nicoletta Rizzi, Clara Meda, Adriana Maggi, Anthony H. V. Schapira, Paolo Ciana
Publikováno v:
Cells, Vol 12, Iss 3, p 343 (2023)
Microglia are heterogenous cells characterized by distinct populations each contributing to specific biological processes in the nervous system, including neuroprotection. To elucidate the impact of sex-specific microglia heterogenicity to the suscep
Externí odkaz:
https://doaj.org/article/528e324aadbc448ead48d7387437b9d3
Autor:
Ciana, Electra Brunialti, Alessandro Villa, Marco Toffoli, Sara Lucas Del Pozo, Nicoletta Rizzi, Clara Meda, Adriana Maggi, Anthony H. V. Schapira, Paolo
Publikováno v:
Cells; Volume 12; Issue 3; Pages: 343
Microglia are heterogenous cells characterized by distinct populations each contributing to specific biological processes in the nervous system, including neuroprotection. To elucidate the impact of sex-specific microglia heterogenicity to the suscep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::3b60b289411812a20daef71a7baf213c
Autor:
Micol Avenali, Marco Toffoli, Chiao-Yin Lee, Abigail Louise Higgins, Stephen Mullin, Fabio Blandini, Sofia Koletsi, Anthony H.V. Schapira
Publikováno v:
Neurodegenerative Disease Management. 11:451-458
Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e2bf656dc4244396f91eca666ba846
https://doi.org/10.2217/nmt-2021-0032
https://doi.org/10.2217/nmt-2021-0032
Polygenic Parkinson’s disease genetic risk score as risk modifier of parkinsonism in Gaucher disease
Autor:
Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel Lopez, Luca Fierro, Marco Toffoli, Naomi Limbachiya, Derralynn Hughes, Vanessa Pitz, Dhairya Patel, Dan Vitale, Mathew J. Koretsky, Dena Hernandez, Raquel Real, Roy N. Alcalay, Mike A. Nalls, Huw R. Morris, Anthony H.V. Schapira, Manisha Balwani, Ellen Sidransky
BackgroundBi-allelic pathogenic variants inGBA1are the cause of Gaucher disease (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. HeterozygousGBA1variants are also a common genetic risk factor for Parkinson’s disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::284df5aac4e715cbeb128bb7b859b47b
https://doi.org/10.1101/2022.12.19.22280175
https://doi.org/10.1101/2022.12.19.22280175
Publikováno v:
Pharmacology & Therapeutics. 246:108419
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f00c046576be5035c3128bb6e0c756ad
https://doi.org/10.1016/j.pharmthera.2023.108419
https://doi.org/10.1016/j.pharmthera.2023.108419
Autor:
Christos Proukakis, Marco Toffoli
The GBA gene is important in PD, but analysis is complex due to the nearby pseudogene, and variants arising by recombination are frequently missed. We present two complementary methods to resolve all variants: targeted long read (Nanopore) sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40be6643683492e04339583df0ed9d63
Autor:
Michael Turner, Cliff Beirne, Antonio Belli, Kaj Blennow, Henrik Zetterberg, Bonnie Kate Dewar, Valentina di Pietro, Conor Gissane, Amanda Heslegrave, Etienne Laverse, Victoria McEneaney, Adrian McGoldrick, James Murray, Patrick O’Halloran, Ben Pearson, Yannis Pitsiladis, Marco Toffoli, Huw Williams, Paul McCrory
Introduction and aimsTraumatic brain injury (TBI) is a leading cause of death and disability worldwide. Large registry studies have demonstrated a dose–response relationship between TBI and neurodegenerative disease ; however, disentangling the dir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5775287c2bb98f631e4ed2b7c6e06561
https://doi.org/10.1101/2022.05.25.22275489
https://doi.org/10.1101/2022.05.25.22275489
Publikováno v:
Movement Disorders. 35:1128-1133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ae24eb7ddb19d0225d5ffb6c7591fed
https://doi.org/10.1002/mds.28030
https://doi.org/10.1002/mds.28030
Autor:
Edward A. Fon, Armaghan Alam, Richard Y.J. Wu, Cornelis Blauwendraat, Jennifer A. Ruskey, Luigi Ferini-Strambi, Paul Cannon, Mathias Toft, Mariarosaria Valente, Alex Desautels, Andrew B. Singleton, Valérie Cochen De Cock, Yves Dauvilliers, Elena Antelmi, C. Trenkwalder, Kari Anne Bjørnarå, Abril Beatriz, Christelle Charley Monaca, Jacques Montplaisir, Nicolas Dupré, Mineke Viaene, Peter Young, Birgit Högl, Giuseppe Plazzi, Monica Puligheddu, W. H. Oertel, Marco Toffoli, Bradley F. Boeve, Owen A. Ross, Friederike Sixel-Döring, Lasse Pihlstrøm, Michele T.M. Hu, Isabelle Arnulf, Sandra B. Laurent, Karl Heilbron, Michela Figorilli, Anna Heidbreder, Lynne Krohn, Guy A. Rouleau, Karel Sonka, Ziv Gan-Or, Mike A. Nalls, Jean-François Gagnon, David Kemlink, Evi Holzknecht, Femke Dijkstra, Ambra Stefani, Gian Luigi Gigli, Brit Mollenhauer, Ronald B. Postuma
Publikováno v:
Ann Neurol
Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (4), pp.584-598. ⟨10.1002/ana.25687⟩
Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (4), pp.584-598. ⟨10.1002/ana.25687⟩
Objective: Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in-depth analysis of the SNCA locus to identify RBD-specific risk variants. Methods:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3823fcd180b0bab90c34617e51467610
https://doi.org/10.1002/ana.25687
https://doi.org/10.1002/ana.25687