Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Irene M. Yee"'
Autor:
A. Dessa Sadovnick, Anthony L. Traboulsee, Cecily Q. Bernales, Jay P. Ross, Amanda L. Forwell, Irene M. Yee, Lena Guillot-Noel, Bertrand Fontaine, Isabelle Cournu-Rebeix, Antonio Alcina, Maria Fedetz, Guillermo Izquierdo, Fuencisla Matesanz, Kelly Hilven, Bénédicte Dubois, An Goris, Ianire Astobiza, Iraide Alloza, Alfredo Antigüedad, Koen Vandenbroeck, Denis A. Akkad, Orhan Aktas, Paul Blaschke, Mathias Buttmann, Andrew Chan, Joerg T. Epplen, Lisa-Ann Gerdes, Antje Kroner, Christian Kubisch, Tania Kümpfel, Peter Lohse, Peter Rieckmann, Uwe K. Zettl, Frauke Zipp, Lars Bertram, Christina M Lill, Oscar Fernandez, Patricia Urbaneja, Laura Leyva, Jose Carlos Alvarez-Cermeño, Rafael Arroyo, Aroa M. Garagorri, Angel García-Martínez, Luisa M. Villar, Elena Urcelay, Sunny Malhotra, Xavier Montalban, Manuel Comabella, Thomas Berger, Franz Fazekas, Markus Reindl, Mascha C. Schmied, Alexander Zimprich, Carles Vilariño-Güell
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 6, Iss 7, Pp 2073-2079 (2016)
Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk fac
Externí odkaz:
https://doaj.org/article/ad94b930f9574b93ac8b8955b0887d3c
Autor:
Walter J. Hader, Irene M. Yee
Publikováno v:
Multiple Sclerosis International, Vol 2014 (2014)
Background. A population-based prevalent cohort of 150 clinical definite multiple sclerosis (MS) cases (102 women; 48 men) ascertained on January 1, 1977, Saskatoon, Saskatchewan, was found to have a familial rate of MS as 17.3%. Objectives. To deter
Externí odkaz:
https://doaj.org/article/994bb436d1544a76bc769021c52dfd92
Autor:
Maria G. Criscuoli, James S. Wiley, Mary Encarnacion, Xin Huang, Carles Vilariño-Güell, A. Dessa Sadovnick, Amber Ou, Cecily Q. Bernales, Irene M. Yee, Steven Petrou, Ben J. Gu, Carol J. Milligan, Anthony Traboulsee
Publikováno v:
Human Mutation. 38:736-744
Genetic variants in the purinergic receptors P2RX4 and P2RX7 have been shown to affect susceptibility to multiple sclerosis (MS). In this study, we set out to evaluate whether rare coding variants of major effect could also be identified in these pur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a2fb8923ccd28813f9b56953f0c626c
https://doi.org/10.1002/humu.23218
https://doi.org/10.1002/humu.23218
Autor:
Mary Encarnacion, Anthony Traboulsee, Cecily Q. Bernales, Irene M. Yee, A. Dessa Sadovnick, Maria G. Criscuoli, Carles Vilariño-Güell
Publikováno v:
Human Genetics. 136:705-714
Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abacbbcb105a967e580af3bc9e1c9ee2
https://doi.org/10.1007/s00439-017-1784-9
https://doi.org/10.1007/s00439-017-1784-9
Autor:
Kristen Attwell-Pope, Glenn Keyes, Lucas Kipp, A. Dessa Sadovnick, Anthony Traboulsee, Irene M. Yee
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 44:246-254
Objective Chronic cerebrospinal venous insufficiency (CCSVI) has been hypothesized to be a risk factor for multiple sclerosis (MS). Venoplasty has been proposed as a treatment for CCSVI. The aim of our study was to gain a better understanding of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb898e51fc9e0ce316d61c14b20a088
https://doi.org/10.1017/cjn.2017.27
https://doi.org/10.1017/cjn.2017.27
Autor:
Carles Vilariño-Güell, Cecily Q. Bernales, Irene M. Yee, Anthony Traboulsee, Mary Encarnacion, Maria G. Criscuoli, A. Dessa Sadovnick
Publikováno v:
Immunogenetics. 70:205-207
The implementation of exome sequencing technologies has started to unravel the genetic etiology of familial multiple sclerosis (MS). A homozygote p.G587S mutation in NLRP1 has been suggested as potentially causative for the onset of MS in an affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46547537477446af1e2de894a3b62933
https://doi.org/10.1007/s00251-017-1034-2
https://doi.org/10.1007/s00251-017-1034-2
Autor:
Carles Vilariño-Güell, Mary Encarnacion, Cecily Q. Bernales, Irene M. Yee, A. Dessa Sadovnick, Yinshan Zhao, Anthony Traboulsee, Jay P. Ross, Maria G. Criscuoli
Publikováno v:
Clinical immunology (Orlando, Fla.). 180
The genetic contribution to clinical outcomes for multiple sclerosis (MS) has yet to be defined. We performed exome sequencing analysis in 100 MS patients presenting opposite extremes of clinical phenotype (discovery cohort), and genotyped variants o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2b406d548c4cfe0c39cf442503356d
https://pubmed.ncbi.nlm.nih.gov/28501589
https://pubmed.ncbi.nlm.nih.gov/28501589
Autor:
Filippo Martinelli-Boneschi, Mary Encarnacion, Weihong Song, Jacqueline A. Quandt, Federica Esposito, Carles Vilariño-Güell, Laura Leyva, Denis Gris, Elena Urcelay, Jordan Follett, Angela Deutschländer, Elisabetta Mascia, Alexander Zimprich, Tobias Zrzavy, Guillermo Izquierdo, Fuencisla Matesanz, Anthony Traboulsee, Patricia Urbaneja-Romero, Alfredo Antigüedad, Andrea Zauli, Zhe Wang, Jorge Mena, Antonio Alcina, Charbel Massaad, Bruno Herculano, Koen Vandenbroeck, A. Dessa Sadovnick, Jesús Ortega-Pinazo, Maria G. Criscuoli, Cecily Q. Bernales, Irene M. Yee, Eva M. Reinthaler, Laura Espino-Paisán
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
PLoS Genetics, Vol 15, Iss 6, p e1008180 (2019)
Addi. Archivo Digital para la Docencia y la Investigación
PLoS Genetics
instname
PLoS Genetics, Vol 15, Iss 6, p e1008180 (2019)
Addi. Archivo Digital para la Docencia y la Investigación
PLoS Genetics
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms have been described. We per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddab2d370a25a6a5a6b42443e1ea3883
https://doi.org/10.1371/journal.pgen.1008180
https://doi.org/10.1371/journal.pgen.1008180
Autor:
Colleen Guimond, S M Orton, George C. Ebers, A. Dessa Sadovnick, Sreeram V. Ramagopalan, Irene M. Yee, David A. Dyment
Autoimmune mechanisms are thought to have a major role in the pathogenesis of multiple sclerosis (MS) and vitamin D is hypothesised to contribute to disease susceptibility. Cow's milk allergy (CMA) is a common childhood allergy arising from an immune
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b8d6691468c190eb7c5b4f0238e06dd
https://ora.ox.ac.uk/objects/uuid:e2c9e7e4-50ca-49b2-8e1a-d23c375c3eeb
https://ora.ox.ac.uk/objects/uuid:e2c9e7e4-50ca-49b2-8e1a-d23c375c3eeb
Autor:
A. Dessa Sadovnick, George C. Ebers, David A. Dyment, Blanca M. Herrera, Maria G. Criscuoli, Sreeram V. Ramagopalan, Irene M. Yee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41673ba0b2599fd70e42b08b6f06af05
https://ora.ox.ac.uk/objects/uuid:50022f85-ea1f-4c82-99a1-501c498b3d9a
https://ora.ox.ac.uk/objects/uuid:50022f85-ea1f-4c82-99a1-501c498b3d9a