Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Jacinda, Sampson"'
Autor:
Jeffrey W. Christle, Tina Duong, Dana Parker, Veronica Stevens, Sally Dunaway Young, Beth D. Kaufman, Whitney Tang, Jacinda Sampson, Jonathan Myers, Euan A. Ashley, John Day, Matthew T. Wheeler
Publikováno v:
Journal of Clinical Exercise Physiology. 12:12-17
BackgroundPatients with neuromuscular disease (NMD) have progressive muscle weakness and limited mobility that contributes to a sedentary lifestyle. A sedentary lifestyle often leads to deconditioning and decreases cardiorespiratory fitness (CRF). Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b400bfd1ed677e486c321317b21cfd35
https://doi.org/10.31189/2165-6193-12.1.12
https://doi.org/10.31189/2165-6193-12.1.12
Publikováno v:
Tuesday, April 25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed2beaf351ab1275aa3a9ffd414de279
https://doi.org/10.1212/wnl.0000000000203814
https://doi.org/10.1212/wnl.0000000000203814
Autor:
Gayle K, Deutsch, Katharine A, Hagerman, Jacinda, Sampson, Gersham, Dent, Jeanne, Dekdebrun, Dana M, Parker, Charles A, Thornton, Chad R, Heatwole, Sub H, Subramony, Ami K, Mankodi, Tetsuo, Ashizawa, Jeffrey M, Statland, W David, Arnold, Richard T, Moxley, John W, Day
Publikováno v:
Muscle Nerve
Myotonic dystrophy type 1 (DM1) is known to affect cognitive function, but the best methods to assess central nervous system involvement in multicenter studies have not been determined. In this study our primary aim was to evaluate the potential of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9e6a103276407a2bfbbf964cbe5a08
https://doi.org/10.1002/mus.27520
https://doi.org/10.1002/mus.27520
Autor:
Wolfgang Köhler, Marc Engelen, Florian Eichler, Robin Lachmann, Ali Fatemi, Jacinda Sampson, Ettore Salsano, Josep Gamez, Maria Judit Molnar, Sílvia Pascual, Maria Rovira, Anna Vilà, Guillem Pina, Itziar Martín-Ugarte, Adriana Mantilla, Pilar Pizcueta, Laura Rodríguez-Pascau, Estefania Traver, Anna Vilalta, María Pascual, Marc Martinell, Uwe Meya, Fanny Mochel, Eavan Mc Govern, Elise Yazbeck, Magali Barbier, Marie-Pierre Luton, Françoise Pousset, Jean-Yves Hogrel, Isaac Adanyeguh, Florian Then Bergh, Caroline Bergner, Astrid Unterlauft, Hannes Roicke, Karl-Titus Hoffmann, Cordula Scherlach, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Silvia Fenu, Elena Mauro, Elaine Murphy, Gauri Krishna, Tiggy Beyene, Alba Sierra, Sara Quiñoa, Anna Belen Canovas, Zoltan Grosz, Báthori Györgyi, S.I. van de Stadt, I.C. Huffnagel, W.J.C. van Ballegoij, M.M.C. Voermans, Reza Seyedsadjadi, Camille Corre, Neha Godbole, Natalie Rose Grant, Claudia Maria Brito Pires, Melissa Trovato, Nancy Yeh, Jordan Goodman, Jennifer Keller, Chris Joseph, Keith Van Haren, Sarada Sakamuri, Tina Duong, Lila Perrone, Stephanie Tran, Sally Dunaway Young, Syed Hashmi
Publikováno v:
The Lancet Neurology, 22(2), 127-136. Lancet Publishing Group
Background: Adult patients with adrenoleukodystrophy have a poor prognosis owing to development of adrenomyeloneuropathy. Additionally, a large proportion of patients with adrenomyeloneuropathy develop life-threatening progressive cerebral adrenoleuk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb8695c85f230bdb0e4f78481480d58
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html
Autor:
Qing Shao, Jessica L. Esseltine, Tao Huang, Nicole Novielli-Kuntz, Jamie E. Ching, Jacinda Sampson, Dale W. Laird
Publikováno v:
Biomolecules, Vol 9, Iss 9, p 474 (2019)
In the last couple of decades, there has been a growing optimism surrounding the potential transformative use of human mesenchymal stem cells (MSCs) and human-induced pluripotent stem cells (iPSCs) for regenerative medicine and disease treatment. In
Externí odkaz:
https://doaj.org/article/92a0f52c2e004e328f1526f844e2ade3
Autor:
Kelly Schoch, Cecilia Esteves, Anna Bican, Rebecca Spillmann, Heidi Cope, Allyn McConkie-Rosell, Nicole Walley, Liliana Fernandez, Jennefer N. Kohler, Devon Bonner, Chloe Reuter, Nicholas Stong, John J. Mulvihill, Donna Novacic, Lynne Wolfe, Ayat Abdelbaki, Camilo Toro, Cyndi Tifft, May Malicdan, William Gahl, Pengfei Liu, John Newman, David B. Goldstein, Jason Hom, Jacinda Sampson, Matthew T. Wheeler, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao-Tuan Chao, Gary D. Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa T. Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Ronit Marom, Paolo M. Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Patricia A. Ward, Edward Behrens, Matthew Deardorff, Marni Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, Vandana Shashi, Edward C. Smith, Rebecca C. Spillmann, Jennifer A. Sullivan, Queenie K.-G. Tan, Nicole M. Walley, Pankaj B. Agrawal, Alan H. Beggs, Gerard T. Berry, Lauren C. Briere, Laurel A. Cobban, Matthew Coggins, Cynthia M. Cooper, Elizabeth L. Fieg, Frances High, Ingrid A. Holm, Susan Korrick, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J.Carl Pallais, Deepak A. Rao, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Melissa Walker, Chris A. Walsh, Emily G. Kelley, Isaac S. Kohane, Kimberly LeBlanc, Alexa T. McCray, Anna Nagy, Surendra Dasari, Brendan C. Lanpher, Ian R. Lanza, Eva Morava, Devin Oglesbee, Guney Bademci, Deborah Barbouth, Stephanie Bivona, Olveen Carrasquillo, Ta Chen Peter Chang, Irman Forghani, Alana Grajewski, Rosario Isasi, Byron Lam, Roy Levitt, Xue Zhong Liu, Jacob McCauley, Ralph Sacco, Mario Saporta, Judy Schaechter, Mustafa Tekin, Fred Telischi, Willa Thorson, Stephan Zuchner, Heather A. Colley, Jyoti G. Dayal, David J. Eckstein, Laurie C. Findley, Donna M. Krasnewich, Laura A. Mamounas, Teri A. Manolio, Grace L. LaMoure, Madison P. Goldrich, Tiina K. Urv, Argenia L. Doss, Maria T. Acosta, Carsten Bonnenmann, Precilla D’Souza, David D. Draper, Carlos Ferreira, Rena A. Godfrey, Catherine A. Groden, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Avi Nath, Barbara N. Pusey, Colleen E. Wahl, Eva Baker, Elizabeth A. Burke, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, John Yang, Bradley Power, Bernadette Gochuico, Laryssa Huryn, Lea Latham, Joie Davis, Deborah Mosbrook-Davis, Francis Rossignol, Ben Solomon, John MacDowall, Audrey Thurm, Wadih Zein, Muhammad Yousef, Margaret Adam, Laura Amendola, Michael Bamshad, Anita Beck, Jimmy Bennett, Beverly Berg-Rood, Elizabeth Blue, Brenna Boyd, Peter Byers, Sirisak Chanprasert, Michael Cunningham, Katrina Dipple, Daniel Doherty, Dawn Earl, Ian Glass, Katie Golden-Grant, Sihoun Hahn, Anne Hing, Fuki M. Hisama, Martha Horike-Pyne, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Christina Lam, Kenneth Maravilla, Heather Mefford, J.Lawrence Merritt, Ghayda Mirzaa, Deborah Nickerson, Wendy Raskind, Natalie Rosenwasser, C.Ron Scott, Angela Sun, Virginia Sybert, Stephanie Wallace, Mark Wener, Tara Wenger, Euan A. Ashley, Gill Bejerano, Jonathan A. Bernstein, Terra R. Coakley, Paul G. Fisher, Laure Fresard, Yong Huang, Elijah Kravets, Marta M. Majcherska, Beth A. Martin, Shruti Marwaha, Colleen E. McCormack, Archana N. Raja, Chloe M. Reuter, Maura Ruzhnikov, Jacinda B. Sampson, Kevin S. Smith, Shirley Sutton, Holly K. Tabor, Brianna M. Tucker, Diane B. Zastrow, Chunli Zhao, William E. Byrd, Andrew B. Crouse, Matthew Might, Mariko Nakano-Okuno, Jordan Whitlock, Gabrielle Brown, Manish J. Butte, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K. Loo, Bryan C. Mak, Martin G. Martin, Julian A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves-Rodriguez, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Rebecca H. Signer, Janet S. Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Jeremy D. Woods, Justin Alvey, Ashley Andrews, Jim Bale, John Bohnsack, Lorenzo Botto, John Carey, Laura Pace, Nicola Longo, Gabor Marth, Paolo Moretti, Aaron Quinlan, Matt Velinder, Dave Viskochil, Pinar Bayrak-Toydemir, Rong Mao, Monte Westerfield, Elly Brokamp, Laura Duncan, Rizwan Hamid, Jennifer Kennedy, Mary Kozuira, John H. Newman, John A. Phillips, Lynette Rives, Amy K. Robertson, Emily Solem, Joy D. Cogan, F. Sessions Cole, Nichole Hayes, Dana Kiley, Kathy Sisco, Jennifer Wambach, Daniel Wegner, Dustin Baldridge, Stephen Pak, Timothy Schedl, Jimann Shin, Lilianna Solnica-Krezel, Joy Cogan
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose The NIH Undiagnosed Diseases Network (UDN) evaluates participants with disorders that have defied diagnosis, applying personalized clinical and genomic evaluations and innovative research. The clinical sites of the UDN are essential to advanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a313df7ac6e34b2c4a6fdd3621afc60
https://doi.org/10.1038/s41436-020-00984-z
https://doi.org/10.1038/s41436-020-00984-z
Autor:
Jeffrey W. Christle, Tina Duong, Constance de Monts, Noirin Maire Ni Ghiollagain, Dana Parker, Veronica Stevens, Sally Dunaway Young, Beth D Kaufman, Whitney Tang, Jacinda Sampson, Jonathan Myers, Euan A. Ashley, John Day, Matthew T. Wheeler
Publikováno v:
Journal of Clinical Exercise Physiology. 12:4-4
BACKGROUND Standard of care for patients with neuromuscular disease (NMD) includes exercise testing and exercise therapy. The focus of exercise in this group is to respond to muscular skeletal pathologies related to NMD, improve general health and fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1dcb55ea284dbd51e58a396b7b6cd57f
https://doi.org/10.31189/2165-7629-12-s1.4
https://doi.org/10.31189/2165-7629-12-s1.4
Autor:
Tahereh Kamali, Dana Parker, John W. Day, Jacinda Sampson, Gayle K. Deutsch, Jeffrey R. Wozniak
Publikováno v:
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference. 2021
The myotonic dystrophies (DM1 and DM2) are dominantly inherited disorders that cause pathological changes throughout the body and the brain. DM patients have difficulties with memory, attention, executive functioning, social cognition, and visuospati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11fdf7dd617f610553a647a48d39fb36
https://pubmed.ncbi.nlm.nih.gov/34892071
https://pubmed.ncbi.nlm.nih.gov/34892071
Autor:
Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose
Publikováno v:
Paediatrics Publications
Aim: Compare efficacies of deflazacort and prednisone/prednisolone in providing clinically meaningful delays in loss of physical milestones in patients with nonsense mutation Duchenne muscular dystrophy. Materials & methods: Placebo data from Phase I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
Autor:
Richard S Finkel, Kevin M Flanigan, Brenda Wong, Carsten Bönnemann, Jacinda Sampson, H Lee Sweeney, Allen Reha, Valerie J Northcutt, Gary Elfring, Jay Barth, Stuart W Peltz
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e81302 (2013)
Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein. Ataluren (PTC124) enables ri
Externí odkaz:
https://doaj.org/article/4c1bae3ea78f472c888682ca55235a59