Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Cyril, Pottier"'
Autor:
Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-21 (2019)
Abstract The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most common genetic cause of fron
Externí odkaz:
https://doaj.org/article/ab2960ee954841b5ba17d0dbe2ec19e5
Autor:
Daniel P Wickland, Yingxue Ren, Jason P Sinnwell, Joseph S Reddy, Cyril Pottier, Vivekananda Sarangi, Minerva M Carrasquillo, Owen A Ross, Steven G Younkin, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew E Hudson, Liudmila Sergeevna Mainzer, Joanna M Biernacka, Yan W Asmann
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0249305 (2021)
Genetic studies have shifted to sequencing-based rare variants discovery after decades of success in identifying common disease variants by Genome-Wide Association Studies using Single Nucleotide Polymorphism chips. Sequencing-based studies require l
Externí odkaz:
https://doaj.org/article/2e9708b8dcae4ea494fdb98162313af4
Autor:
Yingxue Ren, Joseph S. Reddy, Cyril Pottier, Vivekananda Sarangi, Shulan Tian, Jason P. Sinnwell, Shannon K. McDonnell, Joanna M. Biernacka, Minerva M. Carrasquillo, Owen A. Ross, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew Hudson, Liudmila Sergeevna Mainzer, Yan W. Asmann
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-12 (2018)
Abstract Background After decades of identifying risk factors using array-based genome-wide association studies (GWAS), genetic research of complex diseases has shifted to sequencing-based rare variants discovery. This requires large sample sizes for
Externí odkaz:
https://doaj.org/article/b1a9fac1162a4974805bb9c441d8f557
Autor:
Veronica Hirsch-Reinshagen, Cyril Pottier, Alexandra M. Nicholson, Matt Baker, Ging-Yuek R. Hsiung, Charles Krieger, Pheth Sengdy, Kevin B. Boylan, Dennis W. Dickson, Marsel Mesulam, Sandra Weintraub, Eileen Bigio, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Sasha A. Zivkovic, David Lacomis, J. Paul Taylor, Rosa Rademakers, Ian R. A. Mackenzie
Publikováno v:
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-13 (2017)
Abstract Mutations in the stress granule protein T-cell restricted intracellular antigen 1 (TIA1) were recently shown to cause amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). Here, we provide detailed clinical and n
Externí odkaz:
https://doaj.org/article/e0d91199d2474d74ba7a17e9667fb08b
Autor:
Alexandra M. Nicholson, NiCole A. Finch, Marcio Almeida, Ralph B. Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R. Wood, Timothy M. Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M. Teslovich, Alisa K. Manning, Satish Kumar, Joanne Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala, Cyril Pottier, Haaris A. Zahir, Julia E. Crook, Anna Karydas, Laura Mitic, Ying Sun, Dennis W. Dickson, Guojun Bu, Joachim Herz, Gang Yu, Bruce L. Miller, Shawn Ferguson, Ronald C. Petersen, Neill Graff-Radford, John Blangero, Rosa Rademakers
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Increasing progranulin (PGRN) levels is a promising approach for treating frontotemporal dementia and other neurodegenerative diseases. Here Nicholson et al.show that the prosaposin (PSAP) locus is associated with plasma PGRN levels and demonstrate t
Externí odkaz:
https://doaj.org/article/69727bed9cd74c41b1fff7349a1c4efe
Autor:
Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutation
Externí odkaz:
https://doaj.org/article/1861832d934c49a490f60c7997786e48
Autor:
Annemieke J.M.H. Verkerk, Rick van Minkelen, Merel O. Mol, Laura Donker Kaat, Anneke J.A. Kievit, Shamiram Melhem, Jeroen van Rooij, Rosa Rademakers, Harro Seelaar, John C. van Swieten, Elise G.P. Dopper, Cyril Pottier, Tsz H. Wong
Publikováno v:
Neurobiology of aging
Neurobiology of Aging, 97, 148.e9-148.e16. Elsevier Inc.
Neurobiology of Aging, 97, 148.e9-148.e16. Elsevier Inc.
Frontotemporal dementia (FTD) presents with a wide variability in clinical syndromes, genetic etiologies, and underlying pathologies. Despite the discovery of pathogenic variants in several genes, many familial cases remain unsolved. In a large FTD c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f03d6e98342715d34a7661e046faf28
https://doi.org/10.1016/j.neurobiolaging.2020.07.014
https://doi.org/10.1016/j.neurobiolaging.2020.07.014
Autor:
Cyril Pottier, Ligia Mateiu, Matthew C Baker, Mariely DeJesus-Hernandez, Cristina Teixeira Vicente, NiCole A Finch, Shulan Tian, Marka van Blitterswijk, Melissa E Murray, Yingxue Ren, Leonard Petrucelli, Björn Oskarsson, Joanna M Biernacka, Neill R Graff-Radford, Bradley F Boeve, Ronald C Petersen, Keith A Josephs, Yan W Asmann, Dennis W Dickson, Rosa Rademakers
Publikováno v:
Brain
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a complex heterogeneous neurodegenerative disorder for which mechanisms are poorly understood. To explore transcriptional changes underlying FTLD-TDP, we performed RNA-sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d495838414d2db1eae56c59d931a1ee
https://repository.uantwerpen.be/docstore/d:irua:13382
https://repository.uantwerpen.be/docstore/d:irua:13382
Autor:
Virginie Bellet, Tiphany Gouveia, Cyril Pottier, Pascal Drakulovski, Sébastien Bertout, Frédéric Roger, Donika Krasteva
Publikováno v:
MycosesREFERENCES. 65(1)
Background Cryptococcus neoformans and Cryptococcus gattii species complexes are pathogens causing cryptococcal meningitis, a fungal infection that leads to death unless treated. Worldwide, it is estimated to kill over 180,000 individuals annually. O
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1b42c064bcebc3a9c8d3de54254e83
https://pubmed.ncbi.nlm.nih.gov/34726802
https://pubmed.ncbi.nlm.nih.gov/34726802
Autor:
Neill R. Graff-Radford, Sergio Sebastian Pineda, Ronald C. Petersen, Julio Mantero, Bjorn Oskarsson, Mariely DeJesus-Hernandez, Jaimin S. Shah, Veronique V. Belzil, Melissa E. Murray, Erica Engelberg-Cook, Michael DeTure, Brent Eugene Fitzwalter, Rosa Rademakers, Bradley F. Boeve, Hyeseung Lee, Luc Pregent, Dennis W. Dickson, Mahammad E Gardashli, Shahin Mohammadi, David S. Knopman, Manolis Kellis, Cyril Pottier, Marka van Blitterswijk, Keith A. Josephs, Myriam Heiman
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two devastating and fatal neurodegenerative conditions. While distinct, they share many clinical, genetic, and pathological characteristics1, and both show selective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a3a52304aac71720fc15a8376c6619d
https://doi.org/10.1101/2021.07.07.451374
https://doi.org/10.1101/2021.07.07.451374
