Zobrazeno 1 - 10
of 169
pro vyhledávání: '"Kathryn R. Wagner"'
Autor:
Francesco Muntoni, Barry J. Byrne, Hugh J. McMillan, Monique M. Ryan, Brenda L. Wong, Juergen Dukart, Amita Bansal, Valerie Cosson, Roxana Dreghici, Maitea Guridi, Michael Rabbia, Hannah Staunton, Giridhar S. Tirucherai, Karl Yen, Xiling Yuan, Kathryn R. Wagner, the Taldefgrobep Alfa Study Group
Publikováno v:
Neurology and Therapy, Vol 13, Iss 1, Pp 183-219 (2024)
Abstract Introduction Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that manifests during early childhood and is ultimately fatal. Recently approved treatments targeting the genetic cause of DMD are limited to specific subpopulations
Externí odkaz:
https://doaj.org/article/202c472942a04da4895185c648dc27dc
Autor:
Loes Rutten-Jacobs, Tammy McIver, Adriana Reyes, Marta Pereira, Rachel Rosenthal, Christine T. Parusel, Kathryn R. Wagner, Rachelle Doody
Publikováno v:
Contemporary Clinical Trials Communications, Vol 37, Iss , Pp 101255- (2024)
Background: Despite efforts to increase diversity in neuroscience trials, racial and ethnic minority groups remain underrepresented. Disparities in clinical trial participation could reflect unequal opportunities to participate and may contribute to
Externí odkaz:
https://doaj.org/article/f033712403dd4c6cbed7b2fbb459c3f2
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 5, Pp 1799-1801 (2023)
Externí odkaz:
https://doaj.org/article/258bc786e54b4365b79dbe9dd14b5d86
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 2, Pp 543-557 (2023)
Abstract Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokine
Externí odkaz:
https://doaj.org/article/cf9aa173befd4087b4e4bc7cce3e9e84
Autor:
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Cuixia Tian, Jean K. Mah, Francesco Muntoni, Michela Guglieri, Russell J. Butterfield, Lawrence Charnas, Shannon Marraffino
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract We evaluated whether whole-body dual-energy X-ray absorptiometry (DXA) measures of lean body mass can be used as biomarkers for disease progression and treatment effects in patients with Duchenne muscular dystrophy. This post hoc analysis ut
Externí odkaz:
https://doaj.org/article/b1991b15576f4babafe571cf86344cff
Autor:
Qinchuan Wang, Erick O. Hernández-Ochoa, Meera C. Viswanathan, Ian D. Blum, Danh C. Do, Jonathan M. Granger, Kevin R. Murphy, An-Chi Wei, Susan Aja, Naili Liu, Corina M. Antonescu, Liliana D. Florea, C. Conover Talbot, David Mohr, Kathryn R. Wagner, Sergi Regot, Richard M. Lovering, Peisong Gao, Mario A. Bianchet, Mark N. Wu, Anthony Cammarato, Martin F. Schneider, Gabriel S. Bever, Mark E. Anderson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Natural selection may favor traits underlying aging-related diseases if they benefit the young. Wang et al. find that oxidative activation of CaMKII provides physiological benefits critical to the initial and continued success of vertebrates but at t
Externí odkaz:
https://doaj.org/article/6c13420d75db4c89a9f1e7180f0d0576
Autor:
Ravi Jagasia, Kathryn R. Wagner
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 10 (2022)
The loss of skeletal muscle mass and size, or muscle atrophy, is a common human experience, linked to disability, for which there are no widely accepted pharmacological therapies. Piezo1 is a mechanosensitive cation channel that opens upon alteration
Externí odkaz:
https://doaj.org/article/dd311f3a37764cd3bd154861dae20d3f
Autor:
Michael Kyba, Robert J. Bloch, Julie Dumonceaux, Scott Q. Harper, Silvère M. van der Maarel, Francis M. Sverdrup, Kathryn R. Wagner, Baziel van Engelen, Yi-Wen Chen
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-6 (2020)
Externí odkaz:
https://doaj.org/article/99d83c376e0b4c99b077e8a67c8cce9c
Autor:
Francesco Muntoni, Michela Guglieri, Jean K. Mah, Kathryn R. Wagner, John F. Brandsema, Russell J. Butterfield, Craig M. McDonald, Anna G. Mayhew, Jeffrey P. Palmer, Shannon Marraffino, Lawrence Charnas, Eugenio Mercuri
Publikováno v:
PLoS ONE, Vol 17, Iss 8 (2022)
Introduction The North Star Ambulatory Assessment (NSAA) tool is a key instrument for measuring clinical outcomes in patients with Duchenne muscular dystrophy (DMD). To gain a better understanding of the longitudinal utility of the NSAA, we evaluated
Externí odkaz:
https://doaj.org/article/fde97ba947ad4ba8aef682b8dd0767d2
Autor:
Doris G. Leung, Alex E. Bocchieri, Shivani Ahlawat, Michael A. Jacobs, Vishwa S. Parekh, Vladimir Braverman, Katherine Summerton, Jennifer Mansour, Genila Bibat, Carl Morris, Shannon Marraffino, Kathryn R. Wagner
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-12 (2020)
Abstract Background Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associat
Externí odkaz:
https://doaj.org/article/de005e5b5e2a402886b8da63e665c4ac