Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Sandra P Reyna"'
Autor:
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
Externí odkaz:
https://doaj.org/article/a5c2a9a5ae1d4309b4ff3807c966e1af
Autor:
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We p
Externí odkaz:
https://doaj.org/article/e7147684d4fa49fb9e01318e1d1efef6
Autor:
John T Kissel, Charles B Scott, Sandra P Reyna, Thomas O Crawford, Louise R Simard, Kristin J Krosschell, Gyula Acsadi, Bakri Elsheik, Mary K Schroth, Guy D'Anjou, Bernard LaSalle, Thomas W Prior, Susan Sorenson, Jo Anne Maczulski, Mark B Bromberg, Gary M Chan, Kathryn J Swoboda, Project Cure Spinal Muscular Atrophy Investigators' Network
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e21296 (2011)
BACKGROUNDMultiple lines of evidence have suggested that valproic acid (VPA) might benefit patients with spinal muscular atrophy (SMA). The SMA CARNIVAL TRIAL was a two part prospective trial to evaluate oral VPA and L-carnitine in SMA children. Part
Externí odkaz:
https://doaj.org/article/141aa541d70f4d909428010ea6f22fd6
Autor:
Kathryn J Swoboda, Charles B Scott, Thomas O Crawford, Louise R Simard, Sandra P Reyna, Kristin J Krosschell, Gyula Acsadi, Bakri Elsheik, Mary K Schroth, Guy D'Anjou, Bernard LaSalle, Thomas W Prior, Susan L Sorenson, Jo Anne Maczulski, Mark B Bromberg, Gary M Chan, John T Kissel, Project Cure Spinal Muscular Atrophy Investigators Network
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12140 (2010)
Valproic acid (VPA) has demonstrated potential as a therapeutic candidate for spinal muscular atrophy (SMA) in vitro and in vivo.Two cohorts of subjects were enrolled in the SMA CARNIVAL TRIAL, a non-ambulatory group of "sitters" (cohort 1) and an am
Externí odkaz:
https://doaj.org/article/2a5f3943a1fe48acb839ca7db24528ca
Autor:
Kathryn J Swoboda, Charles B Scott, Sandra P Reyna, Thomas W Prior, Bernard LaSalle, Susan L Sorenson, Janine Wood, Gyula Acsadi, Thomas O Crawford, John T Kissel, Kristin J Krosschell, Guy D'Anjou, Mark B Bromberg, Mary K Schroth, Gary M Chan, Bakri Elsheikh, Louise R Simard
Publikováno v:
PLoS ONE, Vol 4, Iss 5, p e5268 (2009)
UNLABELLED:Preliminary in vitro and in vivo studies with valproic acid (VPA) in cell lines and patients with spinal muscular atrophy (SMA) demonstrate increased expression of SMN, supporting the possibility of therapeutic benefit. We performed an ope
Externí odkaz:
https://doaj.org/article/cf5b116376a74737bee79e5d14d205d2
Autor:
Katlyn E. McGrattan, Richard D. Shell, Rebecca Hurst-Davis, Sally Dunaway Young, Eamonn O’Brien, Arseniy Lavrov, Shiri Wallach, Nicole LaMarca, Sandra P. Reyna, Basil T. Darras
Publikováno v:
Journal of Neuromuscular Diseases. :1-10
Background: Improvement and maintenance of bulbar function are goals of disease-modifying treatments for spinal muscular atrophy (SMA). Lack of standardized measures and a widely accepted definition of bulbar function represents a gap in SMA care. Ob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83d542832ca2ff802b70dacb743a75bd
https://doi.org/10.3233/jnd-221531
https://doi.org/10.3233/jnd-221531
Autor:
Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook, W. Dana Flanders
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)
Abstract Background Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates of prevalence are need
Externí odkaz:
https://doaj.org/article/61ca2b24b4a14982a5b8970d8e5137bf
Autor:
Omar Dabbous, Min Yang, Mihaela Georgieva, Walter Toro, Nicole LaMarca, Anish Patel, Annika Anderson, Hanane Akbarnejad, Sandra P. Reyna
Publikováno v:
Tuesday, April 25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83cca7f50acf86e0123b0969bf3375d9
https://doi.org/10.1212/wnl.0000000000202541
https://doi.org/10.1212/wnl.0000000000202541
Autor:
Katlyn McGrattan, Richard Shell, Rebecca Hurst-Davis, Sally Dunaway Young, Giovanni Baranello, Arseniy Lavrov, Eamonn O’Brien, Shiri Wallach, Nicole LaMarca, Sandra P. Reyna, Basil Darras
Publikováno v:
Tuesday, April 25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e72eb6e1a452bf5ee29c7a69f1b9f4f
https://doi.org/10.1212/wnl.0000000000202522
https://doi.org/10.1212/wnl.0000000000202522
Autor:
Francis Fonyuy Tukov, John W. Day, Richard S. Finkel, Kevin A. Strauss, Deepa H. Chand, Jerry R. Mendell, Aaron Kleyn, Sitra Tauscher-Wisniewski, Sandra P. Reyna, Eugenio Mercuri
Publikováno v:
Drug Safety
Introduction This is the first description of safety data for intravenous onasemnogene abeparvovec, the only approved systemically administered gene-replacement therapy for spinal muscular atrophy. Objective We comprehensively assessed the safety of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c09c1be05d90fe3cd7b71c4b730d326
http://europepmc.org/articles/PMC8473343
http://europepmc.org/articles/PMC8473343