Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Sarika U Peters"'
Publikováno v:
Digital Health, Vol 9 (2023)
Sleep is vital to many processes involved in the well-being and health of children; however, it is estimated that 80% of children with Rett syndrome suffer from sleep disorders. Caregiver reports and questionnaires, which are the current method of st
Externí odkaz:
https://doaj.org/article/bb4b8b2fd8de46c099a43339e55c2473
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
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-9 (2020)
Abstract Background MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder primarily affecting males which is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Core clinical features of MDS include cho
Externí odkaz:
https://doaj.org/article/7a55a395846a4368bb6de31249ba0d8c
Autor:
Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS leads to stiff and
Externí odkaz:
https://doaj.org/article/a5cc60114c0d4ce894e2152585d752d4
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 14 (2020)
Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying treatment is available. Fortunately, advances in our understanding of the genetics and pathophysiology of Rett syndrome has led to the development of promising
Externí odkaz:
https://doaj.org/article/aca671738ca94d138a9e9142dd00aadf
Autor:
Melissa Raspa, Angela Gqaltney, Carla Bann, Jana von Hehn, Timothy A. Benke, Eric D. Marsh, Sarika U. Peters, Amitha Ananth, Alan K. Percy, Jeffrey L. Neul
Purpose: Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures availa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ff237ed3f564fe4a6e92d4c945fffe3
https://doi.org/10.21203/rs.3.rs-2873717/v1
https://doi.org/10.21203/rs.3.rs-2873717/v1
Autor:
Jeffrey Neul, Alan Percy, Timothy Benke, Elizabeth Berry-Kravis, Daniel Glaze, Sarika U. Peters, Eric Marsh, Di An, Kathie Bishop, James Youakim
Publikováno v:
Thursday, April 27.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69405faf44c0c4159c93efdabe81a8ec
https://doi.org/10.1212/wnl.0000000000203258
https://doi.org/10.1212/wnl.0000000000203258
Autor:
Jeffrey Lorenz Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, Rett syndrome Natural History Study Group
Objective: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) has enabled development of novel therapeutic approaches that are currently undergoing clinical evaluation or are proposed to move into clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85801b3ca33db07e82547994373b4e9f
https://doi.org/10.21203/rs.3.rs-2566253/v1
https://doi.org/10.21203/rs.3.rs-2566253/v1
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. 15
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 tracking of e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b73b9ba2bc8cc26ce6b3757cfb272bc2
https://doi.org/10.1186/s11689-023-09479-9
https://doi.org/10.1186/s11689-023-09479-9
Autor:
Jeffrey L. Neul, David N. Lieberman, Sarika U. Peters, Daniel G. Glaze, Peter Heydeman, Mary Jones, Timothy Feyma, Eric D. Marsh, Steve A. Skinner, Shannon Michelle Standridge, Bernard Suter, Tim A. Benke, Arthur A. Beisang, Robin C. C. Ryther, Cary Fu, Alan K. Percy
Publikováno v:
Am J Med Genet A
Background MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Although phenotypic features in MDS have been described, there is a limited u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52fed5263846c522d44c4916288b334f
https://doi.org/10.1002/ajmg.a.61956
https://doi.org/10.1002/ajmg.a.61956