Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Eric D Marsh"'
Autor:
Samuel Tomlinson, Chiara Conley, Camilo Bermudez, Merritt Brown, Brenda E Porter, Eric D Marsh
Publikováno v:
Frontiers in Neurology, Vol 7 (2016)
Synchronized cortical activity is implicated in both normative cognitive functioning andmany neurological disorders. For epilepsy patients with intractable seizures, irregular patterns ofsynchronization within the epileptogenic zone (EZ) is believed
Externí odkaz:
https://doaj.org/article/77aae90b4639439cbeab66e0e387bfab
Autor:
Elliot B Bourgeois, Brian N Johnson, Almedia J McCoy, Lorenzo Trippa, Akiva S Cohen, Eric D Marsh
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e108686 (2014)
Voltage-sensitive dye imaging (VSDI) can simultaneously monitor the spatiotemporal electrical dynamics of thousands of neurons and is often used to identify functional differences in models of neurological disease. While the chief advantage of VSDI i
Externí odkaz:
https://doaj.org/article/fce538ad369e4de2b3ff99d8ee003993
Autor:
Jeffrey L. Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Cary Fu, Robin C. Ryther, Steven A. Skinner, David N. Lieberman, Timothy Feyma, Arthur Beisang, Peter Heydemann, Sarika U. Peters, Amitha Ananth, Alan K. Percy
Publikováno v:
Genes, Vol 15, Iss 8, p 1107 (2024)
Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in MECP2 associated with milder sever
Externí odkaz:
https://doaj.org/article/7b94c489a355453ab8b9e546727f2272
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:
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
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
Autor:
Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith L. Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy, Eric D. Marsh, Timothy A. Benke, Annapurna Poduri
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Background CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is pr
Externí odkaz:
https://doaj.org/article/b2a404d8a1fc4c57b3365dbe6a876c7d
Autor:
Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C. Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D. Marsh, Tim A. Benke, Steve Skinner, Jeffrey L. Neul, Alan K. Percy, Michael J. Friez, Raymond C. Caylor
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X‐chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue diffe
Externí odkaz:
https://doaj.org/article/996c3d61b19843d580a58e638b94cc77
Autor:
Nathan Denton, Monique Molloy, Samantha Charleston, Craig Lipset, Jonathan Hirsch, Andrew E. Mulberg, Paul Howard, Eric D. Marsh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-4 (2021)
Abstract Data silos are proliferating while research and development activity explode following genetic and immunological advances for many clinically described disorders with previously unknown etiologies. The latter event has inspired optimism in t
Externí odkaz:
https://doaj.org/article/765210832e944959ba2a8c080ec7e704
Autor:
Ana G. Cristancho, Eric D. Marsh
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-12 (2020)
Abstract Background The fetal brain is adapted to the hypoxic conditions present during normal in utero development. Relatively more hypoxic states, either chronic or acute, are pathologic and can lead to significant long-term neurodevelopmental sequ
Externí odkaz:
https://doaj.org/article/560a863f748b4db99d37f5c6cbe2b176