Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Maria G. Criscuoli"'
Autor:
Carles Vilariño-Güell, Alexander Zimprich, Filippo Martinelli-Boneschi, Bruno Herculano, Zhe Wang, Fuencisla Matesanz, Elena Urcelay, Koen Vandenbroeck, Laura Leyva, Denis Gris, Charbel Massaad, Jacqueline A Quandt, Anthony L Traboulsee, Mary Encarnacion, Cecily Q Bernales, Jordan Follett, Irene M Yee, Maria G Criscuoli, Angela Deutschländer, Eva M Reinthaler, Tobias Zrzavy, Elisabetta Mascia, Andrea Zauli, Federica Esposito, Antonio Alcina, Guillermo Izquierdo, Laura Espino-Paisán, Jorge Mena, Alfredo Antigüedad, Patricia Urbaneja-Romero, Jesús Ortega-Pinazo, Weihong Song, A Dessa Sadovnick
Publikováno v:
PLoS Genetics, Vol 15, Iss 6, p e1008180 (2019)
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://doaj.org/article/3aec66c42d53419dadaeb628391f9fea
Publikováno v:
Multiple sclerosis (Houndmills, Basingstoke, England). 28(3)
Objective: To evaluate the impact of temporal increase of female to male (F:M) sex ratio for persons with multiple sclerosis (MS) on the familial risk (empiric recurrence risks or RRs) for biological relatives of affected individuals. Methods: Detail
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::035c6fc1f6e138b456e3949db952b04c
https://pubmed.ncbi.nlm.nih.gov/34100315
https://pubmed.ncbi.nlm.nih.gov/34100315
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:
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:
David A. Dyment, Joshua D. Lee, Gavin Giovannoni, George C. Ebers, Colleen Guimond, Maria G. Criscuoli, A D Sadovnick, Vorobeychik G, Sreeram V. Ramagopalan, Heather Hanwell, I M Yee
Publikováno v:
Multiple Sclerosis Journal. 20:1182-1188
Background: There is a well-documented increase in the risk of multiple sclerosis (MS) when migrating from a region of low prevalence to one of high prevalence. Objective: We present here an investigation of MS prevalence and candidate environmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e97c74d31c965af72319af5d191cf8d6
https://doi.org/10.1177/1352458513519179
https://doi.org/10.1177/1352458513519179
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:
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
Autor:
William Valdar, A. Dessa Sadovnick, George C. Ebers, Blanca M. Herrera, Kevin Atkins, David A. Dyment, Irene M. Yee, Maria G. Criscuoli, Sreeram V. Ramagopalan, Sarah M. Orton
Publikováno v:
Neuroepidemiology. 31:181-184
Background: Genetic and environmental factors have important roles in multiple sclerosis (MS) susceptibility. A clear maternal effect has been shown in several population-based studies. This parent-of-origin effect could result from factors operating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19cfb6439f73339c8eea931122d1e993
https://doi.org/10.1159/000154931
https://doi.org/10.1159/000154931