Zobrazeno 1 - 10
of 80
pro vyhledávání: '"P. D. Marsh"'
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 3, Pp 189-205 (2024)
Abstract Understanding clinical features and disease progression of Rett syndrome (RTT) and establishing clinical trial readiness was enhanced by the RTT Natural History Study (NHS). The NHS benefited from two key developments: one, the Orphan Drug A
Externí odkaz:
https://doaj.org/article/1619a1ca66504a88bc0626eed04de483
Autor:
Helen E. Burch, Hannah-Marie S. Eddins, Michelle R. Stocker, Ben T. Kligman, Adam D. Marsh, William G. Parker, Sterling J. Nesbitt
Publikováno v:
PeerJ, Vol 12, p e18279 (2024)
Reptile feeding strategies encompass a wide variety of diets and accompanying diversity in methods for subduing prey. One such strategy, the use of venom for prey capture, is found in living reptile clades like helodermatid (beaded) lizards and some
Externí odkaz:
https://doaj.org/article/02bd2f79b2a340b8861c24ece7df8659
Autor:
B. Funke, T. Dudok de Wit, I. Ermolli, M. Haberreiter, D. Kinnison, D. Marsh, H. Nesse, A. Seppälä, M. Sinnhuber, I. Usoskin
Publikováno v:
Geoscientific Model Development, Vol 17, Pp 1217-1227 (2024)
The solar forcing prepared for Phase 6 of the Coupled Model Intercomparison Project (CMIP6) has been used extensively in climate model experiments and has been tested in various intercomparison studies. Recently, an International Space Science Instit
Externí odkaz:
https://doaj.org/article/4e828940e3654067a7bcf76d1a95c01f
Autor:
Hayley E. Arron, Benjamin D. Marsh, Douglas B. Kell, M. Asad Khan, Beate R. Jaeger, Etheresia Pretorius
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a chronic, debilitating disease characterised by a wide range of symptoms that severely impact all aspects of life. Despite its significant prevalence, ME/CFS remains one of the most unde
Externí odkaz:
https://doaj.org/article/e8cebca06c5043f6bb72207c73dcb9ad
Autor:
Jeffrey L. Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, for the Rett syndrome Natural History Study Group
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Objective Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success
Externí odkaz:
https://doaj.org/article/46dabe3f9d4f4458ad61f971214298e1
Autor:
Jeffrey L. Neul, Tim A. Benke, Eric D. Marsh, Jane B. Lane, David N. Lieberman, Steven A. Skinner, Daniel G. Glaze, Bernhard Suter, Peter T. Heydemann, Arthur A. Beisang, Shannon M. Standridge, Robin C. C. Ryther, Richard H. Haas, Lloyd J. Edwards, Amitha Ananth, Alan K. Percy
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 3, Pp 228-238 (2023)
Abstract Objective We aimed to determine the longitudinal distribution of hand function skills in individuals with classic Rett syndrome (RTT), an X‐linked dominant neurodevelopmental disorder, and correlate with MECP2 variants. Method We conducted
Externí odkaz:
https://doaj.org/article/a0d6b9c130ce49d09ab69e1545e711bb
Autor:
Joni N. Saby, Sarika U. Peters, Timothy A. Benke, Shannon M. Standridge, Lindsay C. Swanson, David N. Lieberman, Heather E. Olson, Alexandra P. Key, Alan K. Percy, Jeffrey L. Neul, Charles A. Nelson, Timothy P. L. Roberts, Eric D. Marsh
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and trac
Externí odkaz:
https://doaj.org/article/46442d60ccba4276b6deb5e39df9c848
Autor:
Ricardo Costeira, Joseph Aduse-Opoku, Jon J. Vernon, Francisco Rodriguez-Algarra, Susan Joseph, Deirdre A. Devine, Philip D. Marsh, Vardhman Rakyan, Michael A. Curtis, Jordana T. Bell
Publikováno v:
mSystems, Vol 8, Iss 4 (2023)
ABSTRACT Periodontal disease is a chronic inflammatory disease in which the oral pathogen Porphyromonas gingivalis plays an important role. Porphyromonas gingivalis expresses virulence determinants in response to higher hemin concentrations, but the
Externí odkaz:
https://doaj.org/article/c5854e0bd0ed43ff85b241856c52a9f6
Autor:
Nathan Denton, Andrew E. Mulberg, Monique Molloy, Samantha Charleston, David C. Fajgenbaum, Eric D. Marsh, Paul Howard
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Scientific advances in the understanding of the genetics and mechanisms of many rare diseases with previously unknown etiologies are inspiring optimism in the patient, clinical, and research communities and there is hope that disease-specifi
Externí odkaz:
https://doaj.org/article/912c5bda67e64e25b2ba4231d60e984b
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
The Rett Syndrome Behaviour Questionnaire (RSBQ), which is completed by the caregiver, is one of the most widely used efficacy measures in clinical studies of Rett syndrome (RTT) due to its specificity to the core features of RTT. As healthcare provi
Externí odkaz:
https://doaj.org/article/a092053a7b0d44509b4178ffb7b86e67