Zobrazeno 1 - 10
of 265
pro vyhledávání: '"Alan K, Percy"'
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:
Walter E. Kaufmann, Alan K. Percy, Jeffrey L. Neul, Jenny Downs, Helen Leonard, Paige Nues, Girish D. Sharma, Theresa E. Bartolotta, Gillian S. Townend, Leopold M. G. Curfs, Orietta Mariotti, Claude Buda, Heather M. O’Leary, Lindsay M. Oberman, Vanessa Vogel-Farley, Katherine V. Barnes, Christopher U. Missling
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. Howe
Externí odkaz:
https://doaj.org/article/9f2f215cd3a24fd58dac55f46755ce60
Autor:
Damian May, Kalé Kponee-Shovein, Jeffrey L. Neul, Alan K. Percy, Malena Mahendran, Nathaniel Downes, Grace Chen, Talissa Watson, Dominique C. Pichard, Melissa Kennedy, Patrick Lefebvre
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population. This study characterized females with RTT in
Externí odkaz:
https://doaj.org/article/85d4f235fe314dd9b90f1126e2424377
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:
Melissa Kennedy, Larry Glass, Daniel G. Glaze, Steve Kaminsky, Alan K. Percy, Jeffrey L. Neul, Nancy E. Jones, Daniela Tropea, Joseph P. Horrigan, Paige Nues, Kathie M. Bishop, James M. Youakim
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2024)
Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding protein with roles in epigenetic regulation of gene expression. Functional loss of MeCP2 re
Externí odkaz:
https://doaj.org/article/b550d1b8d2c644c1ba103860350a3bb0
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:
Caroline B. Buchanan, Jennifer L. Stallworth, Aubin E. Joy, Rebekah E. Dixon, Alexandra E. Scott, Arthur A. Beisang, Timothy A. Benke, Daniel G. Glaze, Richard H. Haas, Peter T. Heydemann, Mary D. Jones, Jane B. Lane, David N. Lieberman, Eric D. Marsh, Jeffrey L. Neul, Sarika U. Peters, Robin C. Ryther, Steve A. Skinner, Shannon M. Standridge, Walter E. Kaufmann, Alan K. Percy
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-11 (2022)
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily ap
Externí odkaz:
https://doaj.org/article/8aae0854010443cb93ccd08bb6de4fed
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