Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Grisel, Lopez"'
Publikováno v:
Journal of Engineering Education. 111:852-867
Autor:
Adenrele M. Gleason, Andrea D'Souza, Emory Ryan, Angela R. Grochowsky, Camille R. Carter, Ozlem Goker‐Alpan, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
Karri Kaivola, Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon, Ronald L. Walton, Ryan L. Collins, Kimberley Billingsley, Harrison Brand, Michael Talkowski, Xuefang Zhao, Ramita Dewan, Ali Stark, Anindita Ray, Sultana Solaiman, Pilar Alvarez Jerez, Laksh Malik, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Olga Pletnikova, Juan C. Troncoso, Mario Masellis, Julia Keith, Sandra E. Black, Luigi Ferrucci, Susan M. Resnick, Toshiko Tanaka, Eric Topol, Ali Torkamani, Pentti Tienari, Tatiana M. Foroud, Bernardino Ghetti, John E. Landers, Mina Ryten, Huw R. Morris, John A. Hardy, Letizia Mazzini, Sandra D'Alfonso, Cristina Moglia, Andrea Calvo, Geidy E. Serrano, Thomas G. Beach, Tanis Ferman, Neill R. Graff-Radford, Bradley F. Boeve, Zbigniew K. Wszolek, Dennis W. Dickson, Adriano Chiò, David A. Bennett, Philip L. De Jager, Owen A. Ross, Clifton L. Dalgard, J. Raphael Gibbs, Bryan J. Traynor, Sonja W. Scholz, Anthony R. Soltis, Coralie Viollet, Gauthaman Sukumar, Camille Alba, Nathaniel Lott, Elisa McGrath Martinez, Meila Tuck, Jatinder Singh, Dagmar Bacikova, Xijun Zhang, Daniel N. Hupalo, Adelani Adeleye, Matthew D. Wilkerson, Harvey B. Pollard, Ziv Gan-Or, Ekaterina Rogaeva, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Antonio Canosa, Adriano Chio, Giancarlo Logroscino, Gabriele Mora, Reijko Krüger, Patrick May, Daniel Alcolea, Jordi Clarimon, Juan Fortea, Isabel Gonzalez-Aramburu, Jon Infante, Carmen Lage, Alberto Lleó, Pau Pastor, Pascual Sanchez-Juan, Francesca Brett, Dag Aarsland, Safa Al-Sarraj, Johannes Attems, Steve Gentleman, Angela K. Hodges, Seth Love, Ian G. McKeith, Christopher M. Morris, Laura Palmer, Stuart Pickering-Brown, Alan J. Thomas, Claire Troakes, Matthew J. Barrett, Lynn M. Bekris, Kelley Faber, Margaret E. Flanagan, Alison Goate, David S. Goldstein, Horacio Kaufmann, Walter A. Kukull, James B. Leverenz, Grisel Lopez, Qinwen Mao, Eliezer Masliah, Edwin Monuki, Kathy L. Newell, Jose-Alberto Palma, Matthew Perkins, Alan E. Renton, Clemens R. Scherzer, Vikram G. Shakkottai, Ellen Sidransky, Nahid Tayebi, Randy Woltjer, Robert H. Baloh, Robert Bowser, James Broach, William Camu, John Cooper-Knock, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Eva Feldman, Pietro Fratta, Glenn Gerhard, Summer B. Gibson, Jonathan D. Glass, Matthew B. Harms, Terry D. Heiman-Patterson, Lilja Jansson, Janine Kirby, Justin Kwan, Hannu Laaksovirta, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel J.L. MacGowan, Nicholas J. Maragakis, Kevin Mouzat, Liisa Myllykangas, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Erik Pioro, Stefan M. Pulst, John M. Ravits, Wim Robberecht, Jeffrey D. Rothstein, Michael Sendtner, Pamela J. Shaw, Katie C. Sidle, Zachary Simmons, Thor Stein, David J. Stone, Pentti J. Tienari, Miko Valori, Philip Van Damme, Vivianna M. Van Deerlin, Ludo Van Den Bosch, Lorne Zinman
We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8f93fafa36bee59f7bcec7705675b4
https://hdl.handle.net/2318/1919190
https://hdl.handle.net/2318/1919190
Polygenic Parkinson’s disease genetic risk score as risk modifier of parkinsonism in Gaucher disease
Autor:
Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel Lopez, Luca Fierro, Marco Toffoli, Naomi Limbachiya, Derralynn Hughes, Vanessa Pitz, Dhairya Patel, Dan Vitale, Mathew J. Koretsky, Dena Hernandez, Raquel Real, Roy N. Alcalay, Mike A. Nalls, Huw R. Morris, Anthony H.V. Schapira, Manisha Balwani, Ellen Sidransky
BackgroundBi-allelic pathogenic variants inGBA1are the cause of Gaucher disease (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. HeterozygousGBA1variants are also a common genetic risk factor for Parkinson’s disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::284df5aac4e715cbeb128bb7b859b47b
https://doi.org/10.1101/2022.12.19.22280175
https://doi.org/10.1101/2022.12.19.22280175
Publikováno v:
Movement Disorders. 37:629-634
Background Mutations in GBA1 are a common genetic risk factor for parkinsonism; however, penetrance is incomplete, and biomarkers of future progression to parkinsonism are needed. Both nigral sonography and striatal [18 F]-FDOPA PET assay dopamine sy
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 107-109 (2015)
Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 23 year
Externí odkaz:
https://doaj.org/article/962972fb9b2441ebac14d9639f07db0d
Autor:
Elma Aflaki, Daniel K. Borger, Richard J. Grey, Martha Kirby, Stacie Anderson, Grisel Lopez, Ellen Sidransky
Publikováno v:
Haematologica, Vol 102, Iss 4 (2017)
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes. Studies of macrophages f
Externí odkaz:
https://doaj.org/article/255e250c89034db39b6674420c2215e1
Autor:
Ellen Sidransky, Barbara K. Stubblefield, Nahid Tayebi, Raphael Schiffmann, Chelsie N. Poffenberger, Emory Ryan, Grisel Lopez, Sara K. Inati
Publikováno v:
Mol Genet Metab
The clinical phenotype of Gaucher disease type 3 (GD3), a neuronopathic lysosomal storage disorder, encompasses a wide array of neurological manifestations including neuro-ophthalmological findings, developmental delay, and seizures including progres
Publikováno v:
Mov Disord Clin Pract
Background The link between Parkinson's disease (PD), the second most common neurodegenerative disorder, and nonneuronopathic Gaucher disease (GD) is well established. Currently, PD is primarily associated with nonneuronopathic GD; however, with curr
Autor:
Emory Ryan, Grisel Lopez, Ellen Sidransky, Gurpreet K. Seehra, Alta M. Steward, Tamanna Roshan Lal, Chelsie N. Poffenberger, Nahid Tayebi
Publikováno v:
Neurology
ObjectiveTo gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.MethodsA structured interview was conducted with parents of living or deceased patients