Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Anthony Schapira"'
Publikováno v:
Neurobiology of Disease, Vol 134, Iss , Pp - (2020)
The presence of GBA1 gene mutations increases risk for Parkinson's disease (PD), but the pathogenic mechanisms of GBA1 associated PD remain unknown. Given that impaired α-synuclein turnover is a hallmark of PD pathogenesis and cathepsin D is a key e
Externí odkaz:
https://doaj.org/article/a6a0e5c29a224320b88435825fd99e5a
Patients with Parkinson's disease (PD) are known to suffer from motor symptoms of the disease, but they also experience non-motor symptoms (NMS) that are often present before diagnosis or that inevitably emerge with disease progression. The motor sym
Autor:
Anthony Schapira, Ashwani Jha, Thomas Foltynie, Thomas Payne, Cristina Gonzalez-Robles, Anette Schrag
Publikováno v:
Brain.
An increase in the efficiency of clinical trial conduct has been successfully demonstrated in the oncology field, by the use of multi-arm, multi-stage trials allowing the evaluation of multiple therapeutic candidates simultaneously, and seamless recr
Autor:
Jost, St, Visser-Vandewalle, V, Rizos, A, Loehrer, Pa, Silverdale, M, Evans, J, Samuel, M, Petry-Schmelzer, Jn, Sauerbier, A, Gronostay, A, Barbe, Mt, Fink, Gr, Ashkan, K, Antonini, A, Martinez-Martin, P, Chaudhuri, Kr, Timmermann, L, Dafsari, Hs, EUROPAR and the International Parkinson and Movement Disorders Society Non-Motor Parkinson’s Disease Study Group, Roongroj, Bhidayasiri, Cristian, Falup-Pecurariu, Beomseok, Jeon, Valentina, Leta, Per, Borghammer, Per, Odin, Anette, Schrag, Alexander, Storch, Mayela Rodriguez Violante, Daniel, Weintraub, Charles, Adler, Paolo, Barone, David, J Brooks, Richard, Brown, Marc, Cantillon, Camille, Carroll, Miguel, Coelho, Tove, Henriksen, Michele, Hu, Peter, Jenner, Milica, Kramberger, Padma, Kumar, Mónica, Kurtis, Simon, Lewis, Irene, Litvan, Kelly, Lyons, Davide, Martino, Mario, Masellis, Hideki, Mochizuki, James, F Morley, Melissa, Nirenberg, Javier, Pagonabarraga, Jalesh, Panicker, Nicola, Pavese, Eero, Pekkonen, Ron, Postuma, Raymond, Rosales, Anthony, Schapira, Tanya, Simuni, Fabrizio, Stocchi, Indu, Subramanian, Michele, Tagliati, Tinazzi, Michele, Jon, Toledo, Yoshio, Tsuboi, Richard, Walker
Publikováno v:
NPJ Parkinson's disease, vol 7, iss 1
Jost, S T, Visser-Vandewalle, V, Rizos, A, Loehrer, P A, Silverdale, M, Evans, J, Samuel, M, Petry-Schmelzer, J N, Sauerbier, A, Gronostay, A, Barbe, M T, Fink, G R, Ashkan, K, Antonini, A, Martinez-Martin, P, Chaudhuri, K R, Timmermann, L, Dafsari, H S & EUROPAR and the International Parkinson and Movement Disorders Society Non-Motor Parkinson’s Disease Study Group 2021, ' Non-motor predictors of 36-month quality of life after subthalamic stimulation in Parkinson disease ', Parkinson's Disease, vol. 7, no. 1, 48 . https://doi.org/10.1038/s41531-021-00174-x
npj Parkinson's Disease 7(1), 48 (2021). doi:10.1038/s41531-021-00174-x
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-7 (2021)
NPJ Parkinson's Disease
Jost, S T, Visser-Vandewalle, V, Rizos, A, Loehrer, P A, Silverdale, M, Evans, J, Samuel, M, Petry-Schmelzer, J N, Sauerbier, A, Gronostay, A, Barbe, M T, Fink, G R, Ashkan, K, Antonini, A, Martinez-Martin, P, Chaudhuri, K R, Timmermann, L, Dafsari, H S & EUROPAR and the International Parkinson and Movement Disorders Society Non-Motor Parkinson’s Disease Study Group 2021, ' Non-motor predictors of 36-month quality of life after subthalamic stimulation in Parkinson disease ', Parkinson's Disease, vol. 7, no. 1, 48 . https://doi.org/10.1038/s41531-021-00174-x
npj Parkinson's Disease 7(1), 48 (2021). doi:10.1038/s41531-021-00174-x
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-7 (2021)
NPJ Parkinson's Disease
Altres ajuts: Projekt DEAL; German Research Foundation (Grant KFO 219). To identify predictors of 36-month follow-up quality of life (QoL) outcome after bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD). In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc8d7841aa35f458d7e8179c87f2f859
https://escholarship.org/uc/item/3ns422xh
https://escholarship.org/uc/item/3ns422xh
Autor:
Diego Perez-Rodriguez, Maria Kayla, Melissa Leija-Salazar, Tammaryn Lashley, Thomas Warner, Steve Gentleman, Anthony Schapira, Janice Holton, Zane Jaunmuktane, Christos Proukakis
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:A4.2-A4
Synucleinopathies are mostly sporadic neurodegenerative disorders, and include Parkinson’s disease (PD), and multiple system atrophy (MSA). Inherited copy number variants (CNVs) ofSNCA(α-synuclein) are rare causes of familial disease. There is inc
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:A81.3-A81
To investigate the use of PBMCs as a biomarker of mitochondrial dysfunction in Parkinson disease (PD) fresh peripheral blood mononuclear cells (PBMCs) were isolated using Ficoll gradient separation from PD patients with pathogenic biallelic parkin mu
Autor:
Judith Peterschmitt, Hidemoto Saiki, Taku Hatano, Thomas Gasser, Stuart H. Isaacson, Sebastiaan JM Gaemers, Pascal Minini, Stéphane Saubadu, Jyoti Sharma, Samantha Walbillic, Roy N. Alcalay, Gary Cutter, Nobutaka Hattori, Günter U. Höglinger, Kenneth Marek, Anthony Schapira, Clemens R. Scherzer, Tanya Simuni, Nir Giladi, Sergio Pablo Sardi, Tanya Z. Fischer, MOVES-PD Investigators Group
Publikováno v:
SSRN Electronic Journal.
Background: Glucocerebrosidase gene (GBA) mutations influence the risk and prognosis of Parkinson’s disease (PD), possibly through accumulation of glycosphingolipids, including glucosylceramide (GL-1). Venglustat, a glucosylceramide synthase inhibi
Autor:
Laura Smith, Anthony Schapira
Publikováno v:
Cells. 11:1261
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have mutations in the GBA gene, making it numerically the most important genetic risk factor
Autor:
Stephen Mullin, Morten Gersel Stokholm, Derralyn Hughes, Atul Mehta, Peter Parbo, Rainer Hinz, Nicola Pavese, David Brooks, Anthony Schapira
Publikováno v:
SSRN Electronic Journal.
Autor:
Hannah Andersen Pliner, Christophe Tzourio, Christina Lill, Jean-christophe Corvol, Anthony Schapira, Maria Martinez, Demetrios Vassilatis, Nicholas Wood, Irene Litvan, Günther Deuschl, Claudia Schulte, Karen Elaine Morrison, Nathan Pankratz, Gavin Hudson, Thomas Gasser, Christopher Letson, Michele Hu, Javier Simón Sánchez, Katie Lunnon, Jose Bras, J. Raphael Gibbs, Panos Deloukas, Cornelia Van Duijn, Eleanna Kara, Patrick Chinnery, Georgios Koutsis, Caroline Williams-Gray, Rita Guerreiro, John Hardy, Jean-Charles Lambert, Daniela Berg, Francis Walker, Vincent Plagnol, Honglei Chen, Peter Heutink, Sudha Seshadri, Jing Dong, Alexis Brice, Sarah Edkins, Alan E. Renton
Publikováno v:
Neurobiology of Aging, 36(3), 1605.e7-1605.e12. Elsevier Inc.
Neurobiology of aging, vol 36, iss 3
Neurobiology of Aging
Neurobiology of Aging, 36(3). Elsevier Inc.
Nalls, M A, Bras, J, Hernandez, D G, Keller, M F, Majounie, E, Renton, A E, Saad, M, Jansen, I E, Guerreiro, R, Lubbe, S, Plagnol, V, Gibbs, J R, Schulte, C, Pankratz, N, Sutherland, M, Bertram, L, Lill, C M, DeStefano, A L, Faroud, T, Eriksson, N, Tung, J Y, Edsall, C, Nichols, N, Brooks, J, Arepalli, S, Pliner, H, Letson, C, Heutink, P, Martinez, M, Gasser, T, Traynor, B J, Wood, N, Hardy, J & Singleton, A B 2015, ' NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases ', Neurobiology of Aging, vol. 36, no. 3, pp. 1605.e7-1605.e12 . https://doi.org/10.1016/j.neurobiolaging.2014.07.028
Neurobiology of Aging, 36, 3, pp. 1605.e7-12
Neurobiology of Aging, 36, 1605.e7-12
Neurobiology of aging, 36(3), 1605.e7-1605.12. Elsevier Inc.
Neurobiology of Aging, 36(3)
Neurobiology of aging, vol 36, iss 3
Neurobiology of Aging
Neurobiology of Aging, 36(3). Elsevier Inc.
Nalls, M A, Bras, J, Hernandez, D G, Keller, M F, Majounie, E, Renton, A E, Saad, M, Jansen, I E, Guerreiro, R, Lubbe, S, Plagnol, V, Gibbs, J R, Schulte, C, Pankratz, N, Sutherland, M, Bertram, L, Lill, C M, DeStefano, A L, Faroud, T, Eriksson, N, Tung, J Y, Edsall, C, Nichols, N, Brooks, J, Arepalli, S, Pliner, H, Letson, C, Heutink, P, Martinez, M, Gasser, T, Traynor, B J, Wood, N, Hardy, J & Singleton, A B 2015, ' NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases ', Neurobiology of Aging, vol. 36, no. 3, pp. 1605.e7-1605.e12 . https://doi.org/10.1016/j.neurobiolaging.2014.07.028
Neurobiology of Aging, 36, 3, pp. 1605.e7-12
Neurobiology of Aging, 36, 1605.e7-12
Neurobiology of aging, 36(3), 1605.e7-1605.12. Elsevier Inc.
Neurobiology of Aging, 36(3)
Contains fulltext : 153490.pdf (Publisher’s version ) (Closed access) Our objective was to design a genotyping platform that would allow rapid genetic characterization of samples in the context of genetic mutations and risk factors associated with