Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Gautam Sajeev"'
Autor:
Francesco Muntoni, James Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans, Craig McDonald, Eugenio Mercuri, Erik H Niks, Brenda Wong, Krista Vandenborne, Volker Straub, Imelda J M de Groot, Cuixia Tian, Adnan Manzur, Ibrahima Dieye, Henry Lane, Susan J Ward, Laurent Servais, PRO-DMD-01 study investigators, Association Française contre les Myopathies, UK NorthStar Clinical Network, ImagingDMD investigators, cTAP
Publikováno v:
PLoS ONE, Vol 19, Iss 7, p e0304984 (2024)
Evaluations of treatment efficacy in Duchenne muscular dystrophy (DMD), a rare genetic disease that results in progressive muscle wasting, require an understanding of the 'meaningfulness' of changes in functional measures. We estimated the minimal de
Externí odkaz:
https://doaj.org/article/0cdc19d226b54599940b6eaa426e1e89
Autor:
Craig M. McDonald, James Signorovitch, Eugenio Mercuri, Erik H. Niks, Brenda Wong, Mirko Fillbrunn, Gautam Sajeev, Erica Yim, Ibrahima Dieye, Debra Miller, Susan J. Ward, Nathalie Goemans
Publikováno v:
PLoS ONE, Vol 19, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/85e149c658874162816c67e135ac7921
Autor:
Ying Qiu, Jiafan Chen, Gautam Sajeev, Yao Wang, Dongni Ye, Mingchen Ye, Jingyi Chen, Allison Quintana, Clare Byrne, David Huggar, Willem Heydendael
Publikováno v:
HemaSphere, Vol 7, p e00953ba (2023)
Externí odkaz:
https://doaj.org/article/386cdc61125c4532b625a3b39a81dee1
Autor:
Francesca Palandri, Lucia Masarova, Srdan Verstovsek, Ruben Mesa, Claire Harrison, Gautam Sajeev, Boris Gorsh, Ryan Simpson, Sang Cho, Zhaohui Wang, Catherine Ellis, Sean Conlon, James Signorovitch
Publikováno v:
HemaSphere, Vol 7, p e303449c (2023)
Externí odkaz:
https://doaj.org/article/c10c24e0a2514a8facb9fec41ae8ad42
Autor:
Xiangling Wang, David Danese, Thomas Brown, Jessica Baldwin, Gautam Sajeev, Erin E. Cook, Yao Wang, Chunyi Xu, Hongbo Yang, Michael L. Moritz
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that can result in irreversible damage to the kidneys and, eventually, extrarenal organs. While kidney failure is a known consequence of PH1, few studies to date have characteri
Externí odkaz:
https://doaj.org/article/0dfd6498e3a8416bbec727448a2b7eaf
Autor:
Nathalie Goemans, Brenda Wong, Marleen Van den Hauwe, James Signorovitch, Gautam Sajeev, David Cox, John Landry, Madeline Jenkins, Ibrahima Dieye, Zhiwen Yao, Intekhab Hossain, Susan J Ward, Collaborative Trajectory Analysis Project (cTAP)
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0232870 (2020)
The timed 4-stair climb (4SC) assessment has been used to measure function in Duchenne muscular dystrophy (DMD) practice and research. We sought to identify prognostic factors for changes in 4SC, assess their consistency across data sources, and the
Externí odkaz:
https://doaj.org/article/a287b4457f924d48a566aa43b835a618
Autor:
Francesco Muntoni, Joana Domingos, Adnan Y Manzur, Anna Mayhew, Michela Guglieri, UK NorthStar Network, Gautam Sajeev, James Signorovitch, Susan J Ward
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0221097 (2019)
Functional variability among boys with Duchenne muscular dystrophy (DMD) is well recognised and complicates interpretation of clinical studies. We hypothesised that boys with DMD could be clustered into groups sharing similar trajectories of ambulato
Externí odkaz:
https://doaj.org/article/35e42ca367af4f029ca82ac5cd3a63de
Autor:
Nienke M. van de Velde, Zaïda Koeks, Mirko Signorelli, Nisha Verwey, Maurice Overzier, Jaap A. Bakker, Gautam Sajeev, James Signorovitch, Valeria Ricotti, Jan Verschuuren, Kristy Brown, Pietro Spitali, Erik H. Niks
Publikováno v:
Neurology, 100(9), E975-E984. LIPPINCOTT WILLIAMS & WILKINS
Neurology
Neurology
Background and ObjectivesThe slow and variable disease progression of Becker muscular dystrophy (BMD) urges the development of biomarkers to facilitate clinical trials. We explored changes in 3 muscle-enriched biomarkers in serum of patients with BMD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a57db93bedb6271d9c761dcf773bd2
https://hdl.handle.net/1887/3590525
https://hdl.handle.net/1887/3590525
Autor:
Yuan Ma, Gautam Sajeev, Tyler J. VanderWeele, Anand Viswanathan, Sigurdur Sigurdsson, Gudny Eiriksdottir, Thor Aspelund, Rebecca A. Betensky, Francine Grodstein, Albert Hofman, Vilmundur Gudnason, Lenore Launer, Deborah Blacker
Publikováno v:
Eur J Epidemiol
The apolipoprotein E allele 4 (APOE-ε4) is established as a major genetic risk factor for cognitive decline and late-onset Alzheimer's disease. Accumulating evidence has linked ε4 carriership to abnormal structural brain changes across the adult li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab765af0a9b63d3115cb0eb641cb5d6b
https://europepmc.org/articles/PMC9288978/
https://europepmc.org/articles/PMC9288978/
Publikováno v:
Expert Opinion on Pharmacotherapy. 22:121-129
Patisiran and inotersen are two therapies approved for the treatment of hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy, a rapidly progressive disease with a substantial clinical burden. This analysis indirectly compares the