Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Alexandra I. Soto-Ortolaza"'
Autor:
Catherine Labbé, Kotaro Ogaki, Oswaldo Lorenzo-Betancor, Minerva M Carrasquillo, Michael G Heckman, Allan McCarthy, Alexandra I Soto-Ortolaza, Ronald L Walton, Timothy Lynch, Joanna Siuda, Grzegorz Opala, Anna Krygowska-Wajs, Maria Barcikowska, Krzysztof Czyzewski, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, Owen A Ross
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0128586 (2015)
Genome-wide association studies (GWAS) in Parkinson's disease (PD) have identified over 20 genomic regions associated with disease risk. Many of these loci include several candidate genes making it difficult to pinpoint the causal gene. The locus on
Externí odkaz:
https://doaj.org/article/aa2f264e4c774cc6bbd495cb2c0ff877
Autor:
Owen A Ross, Alexandra I Soto-Ortolaza, Michael G Heckman, Christophe Verbeeck, Daniel J Serie, Sruti Rayaprolu, Stephen S Rich, Michael A Nalls, Andrew Singleton, Rita Guerreiro, Emma Kinsella, Zbigniew K Wszolek, Thomas G Brott, Robert D Brown, Bradford B Worrall, James F Meschia
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75035 (2013)
BACKGROUND:Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or
Externí odkaz:
https://doaj.org/article/f629f04c31634e809c25c0a35391f7e7
Autor:
Michael G Heckman, Alexandra I Soto-Ortolaza, Nancy N Diehl, Minerva M Carrasquillo, Ryan J Uitti, Zbigniew K Wszolek, Neill R Graff-Radford, Owen A Ross
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42877 (2012)
A variety of definitions of successful aging have been proposed, many of which relate to longevity, freedom from disease and disability, or preservation of high physical and cognitive function. Many behavioral, biomedical, and psychological factors h
Externí odkaz:
https://doaj.org/article/2a2615b40887414cba80a8a179f61347
Autor:
Michel Panisset, Günther Deuschl, Patrick A. Dion, Lukas Tittmann, Mark Hallett, Claudia M. Testa, Simon Girard, Zbigniew K. Wszolek, Karin Srulijes, Klaus Seppi, Susanne A. Schneider, Gregor Kuhlenbäumer, Nancy D. Merner, Juliane Winkelmann, Wolfgang Lieb, Manuela Pendziwiat, Dietrich Haubenberger, Oswaldo Lorenzo-Betancor, Franziska Hopfner, Ronald B. Postuma, Kirsten E. Zeuner, Geneviève Bernard, Sylvain Chouinard, Guy A. Rouleau, Elan D. Louis, Owen A. Ross, Eva Reischl, Thomas Arzberger, Daniela Berg, Stefanie H. Müller, Sara Ortega-Cubero, Cynthia V. Bourassa, Joshua M. Shulman, Ali H. Rajput, Alexandra I. Soto-Ortolaza, Stephan Klebe, Nicolas Dupré, Isabel Wurster, Pau Pastor, Anna Hussl, Konstantin Strauch, Karl-Heinz Ladwig, Colin A. Hodgkinson, Joseph Jankovic, Delia Lorenz, Werner Poewe, Lorraine N. Clark, Alex Rajput, Carles Vilariño-Güell
Publikováno v:
Brain 139, 3163-3169 (2016)
Brain 139(12), 3163-3169 (2016). doi:10.1093/brain/aww242
Brain 139(12), 3163-3169 (2016). doi:10.1093/brain/aww242
We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f6a8d91674448e5d174db466b050ff
https://doi.org/10.1093/brain/aww242
https://doi.org/10.1093/brain/aww242
Autor:
Zbigniew K. Wszolek, Lawrence I. Golbe, Neill R. Graff-Radford, Ronald L. Walton, Pawel Tacik, Owen A. Ross, Michael G. Heckman, Alexandra I. Soto-Ortolaza, Patricia H. Brown, Nancy N. Diehl, Rosa Rademakers, Dennis W. Dickson, Elizabeth Christopher, Monica Sanchez-Contreras
Publikováno v:
Movement Disorders. 32:115-123
Background Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are the most common genetic cause of Parkinson's disease (PD). Unexpectedly, tau pathology has been reported in a subset of LRRK2 mutation carriers. Methods To estimate the frequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15ad18d20c956d36845c21681f95bf80
https://doi.org/10.1002/mds.26815
https://doi.org/10.1002/mds.26815
Autor:
Neill R. Graff-Radford, Owen A. Ross, David S. Knopman, Val J. Lowe, David T.W. Jones, Melissa E. Murray, Alexandra I. Soto-Ortolaza, Zbigniew K. Wszolek, Ronald C. Petersen, Rosa Rademakers, Joseph E. Parisi, Glenn E. Smith, Monica Sanchez Contreras, Clifford R. Jack, Catherine Labbé, Bradley F. Boeve, Jay A. van Gerpen, Ronald L. Walton, Tanis J. Ferman, Jonathan Graff-Radford, Oswaldo Lorenzo-Betancor, Rodolfo Savica, Nilufer Ertekin-Taner, Kejal Kantarci, Nancy N. Diehl, Michael G. Heckman, Ryan J. Uitti, Dennis W. Dickson, Otto Pedraza
Publikováno v:
Parkinsonism and related disorders
Introduction: The leucine-rich repeat kinase 2 (LRRK2) gene contains several variants that cause Parkinson's disease (PD) and others that modify PD risk. However, little is known about the role of LRRK2 in dementia with Lewy bodies (DLB). Aims of thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47528d0f57ab1b2bdc4fc2fcd3fbbbae
https://doi.org/10.1016/j.parkreldis.2016.07.015
https://doi.org/10.1016/j.parkreldis.2016.07.015
Autor:
Steven G. Younkin, Ronald L. Walton, Ronald C. Petersen, William P. Cheshire, Neill R. Graff-Radford, Kotaro Ogaki, Zbigniew K. Wszolek, Dennis W. Dickson, Michael G. Heckman, Phillip A. Low, Ryan J. Uitti, Elizabeth A. Coon, Oswaldo Lorenzo-Betancor, Shinsuke Fujioka, Alexandra I. Soto-Ortolaza, Wolfgang Singer, Owen A. Ross, Paola Sandroni, Catherine Labbé, Shunsuke Koga, Melissa E. Murray, Bradley F. Boeve, Jay A. van Gerpen
Publikováno v:
Parkinsonism & Related Disorders. 30:40-45
Introduction Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder. MSA was originally considered exclusively sporadic but reports of association with genes such as SNCA, COQ2 and LRRK2 have demonstrated that there is a genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246f67a8e8c265b3f9a202e2365bbdcd
https://doi.org/10.1016/j.parkreldis.2016.06.010
https://doi.org/10.1016/j.parkreldis.2016.06.010
Autor:
Joanna Siuda, Sepideh Zareparsi, Owen A. Ross, Clemens R. Scherzer, Alexandra I. Soto-Ortolaza, Timothy Lynch, Patrick Breheny, Haydeh Payami, Erin M. Hill-Burns, William T. Wissemann, Zbigniew K. Wszolek, Peter A. Silburn, Stewart A. Factor, Cyrus P. Zabetian, Beate Ritz, George D. Mellick
Publikováno v:
Human Molecular Genetics
Parkinson’s disease (PD) is the most common cause of neurodegenerative movement disorder and the second most common cause of dementia. Genes are thought to have a stronger effect on age-at-onset of PD than on risk, yet there has been a phenomenal s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f97bde831e4b19b029f860980338c1c0
http://europepmc.org/articles/PMC5216611
http://europepmc.org/articles/PMC5216611
Autor:
Michael G. Heckman, Neill R. Graff-Radford, Clifford R. Jack, Owen A. Ross, Demetrius M. Maraganore, Oswaldo Lorenzo-Betancor, Zbigniew K. Wszolek, Melissa E. Murray, Ronald C. Petersen, Bradley F. Boeve, Mariet Allen, Tanis J. Ferman, Ryan J. Uitti, Ronald L. Walton, Val J. Lowe, David S. Knopman, Kejal Kantarci, Nilufer Ertekin-Taner, Alexandra I. Soto-Ortolaza, Rodolfo Savica, Joseph E. Parisi, Anhar Hassan, Glenn E. Smith, Catherine Labbé, Dennis W. Dickson
Publikováno v:
Alzheimer's & Dementia. 12:1297-1304
Introduction The MAPT H1 haplotype has been associated with several neurodegenerative diseases. We were interested in exploring the role of MAPT haplotypic variation in risk of dementia with Lewy bodies (DLB). Method We genotyped six MAPT haplotype t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da4058a71364416601e68d63c0e69e1d
https://doi.org/10.1016/j.jalz.2016.05.002
https://doi.org/10.1016/j.jalz.2016.05.002
Autor:
Owen A. Ross, Sruti Rayaprolu, Andrea M. Harriott, John Cole, Takahisa Kanekiyo, Michael G. Heckman, Nancy N. Diehl, Rainer Malik, Guojun Bu, Chia Chen Liu, Alexandra I. Soto-Ortolaza, James F. Meschia
Publikováno v:
European Journal of Neurology. 22:1235-1241
Background and purpose Low density lipoprotein receptor related proteins (LRPs) 1 and 6 have been implicated in cerebral ischaemia. In addition, genetic variation in LRP1 and LRP6 has been linked with various factors that are related to risk of ischa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234024ff18f4aaadd154d93a20ccab04
https://doi.org/10.1111/ene.12735
https://doi.org/10.1111/ene.12735