Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Monal, Punjabi"'
Autor:
Jeffrey S Elliott, Darren Michael, Irene C Chrismer, Fatoumata Tounkara, Monique O Shelton, Carolyn Allen, Minal Jain, Joshua J. Todd, Carsten G. Bönnemann, Muslima S Razaqyar, Mary M. Cosgrove, Magalie Emile-Backer, M. Waite, Bart Drinkard, Tokunbor A. Lawal, Anna Kuo, James J. Dowling, Monal Punjabi, Katherine G. Meilleur, Jessica W Witherspoon, Melody M. Linton, Paul Wakim
Publikováno v:
Neurology. 94:e1434-e1444
ObjectiveTo investigate the efficacy ofN-acetylcysteine (NAC) for decreasing elevated oxidative stress and increasing physical endurance in individuals with ryanodine receptor 1-related myopathies (RYR1-RM).MethodsIn this 6-month natural history asse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a517eb7fdf1027f33481e225c02f135f
https://doi.org/10.1212/wnl.0000000000008872
https://doi.org/10.1212/wnl.0000000000008872
Autor:
Joshua J, Todd, Tokunbor A, Lawal, Jessica W, Witherspoon, Irene C, Chrismer, Muslima S, Razaqyar, Monal, Punjabi, Jeffrey S, Elliott, Fatoumata, Tounkara, Anna, Kuo, Monique O, Shelton, Carolyn, Allen, Mary M, Cosgrove, Melody, Linton, Darren, Michael, Minal S, Jain, Melissa, Waite, Bart, Drinkard, Paul G, Wakim, James J, Dowling, Carsten G, Bönnemann, Magalie, Emile-Backer, Katherine G, Meilleur
Publikováno v:
Neurology
Objective To investigate the efficacy of N-acetylcysteine (NAC) for decreasing elevated oxidative stress and increasing physical endurance in individuals with ryanodine receptor 1-related myopathies (RYR1-RM). Methods In this 6-month natural history
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f554a8d0097a859e6332e7c1f82ce01a
https://pubmed.ncbi.nlm.nih.gov/31941795
https://pubmed.ncbi.nlm.nih.gov/31941795
Autor:
Angela Kokkinis, M. McGuire, Robert J. Fee, Courtney Fiorini, Ranjani Logaraj, Irene C Chrismer, Leslie Nelson, Peter McGraw, Fatoumata Tounkara, Minal Jain, Allan Glanzman, E.J. Hartnett, Tina Duong, Kristy Rose, Anne Rutkowski, Mark Barton, Monal Punjabi, Katherine G. Meilleur, Payam Mohassel, M. Leach, M. Waite, G. Averion, Melody M. Linton, Eunice S. Kim, Gina Norato, Sandra Donkervoort, Jocelyn Winkert, Joseph A. Fontana, Carmel Nichols, Jahannaz Dastgir, Ruhi Vasavada, Kristen Zukosky, Carole Vuillerot, James C. Collins, Donovan J. Lott, Eunhee Kim, Katherine Keller, Alice B. Schindler, Marion Main, Jeffrey L. Elliott, A. Reghan Foley, Veronica J. Hinton, Diana Bharucha-Goebel, Linda S. Hynan, Carsten G. Bönnemann
Publikováno v:
Pediatric Neurology Briefs
ObjectiveTo identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).MethodsOver the course of 4 years, 47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08b0ad501cd1f9ff095aa880df69772
https://pubmed.ncbi.nlm.nih.gov/33304089
https://pubmed.ncbi.nlm.nih.gov/33304089
Autor:
M. Leach, M. McGuire, Fatou Tounkara, M. Waite, Jahannaz Dastgir, Leslie Nelson, Bonnie Hodsdon, James J. Collins, Ruhi Vasavada, Roxanna M. Bendixen, Elizabeth Harnett, Carsten G. Bönnemann, I. Arveson, Katherine G. Meilleur, Jeffrey S Elliott, Anne Rutkowski, Rebecca Parks, Sandra Donkervoort, Jocelyn Butrum, Michelle Hsia, Monal Punjabi, Melody M. Linton, Carmel Nichols, M. Jain, Katherine Keller
Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b40bca3a9daed429877d059a135e09
https://europepmc.org/articles/PMC5318262/
https://europepmc.org/articles/PMC5318262/
