Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Jeannie Visootsak"'
Autor:
Celia Goeldner, Priya S. Kishnani, Brian G. Skotko, Julian Lirio Casero, Joerg F. Hipp, Michael Derks, Maria-Clemencia Hernandez, Omar Khwaja, Sian Lennon-Chrimes, Jana Noeldeke, Sabine Pellicer, Lisa Squassante, Jeannie Visootsak, Christoph Wandel, Paulo Fontoura, Xavier Liogier d’Ardhuy, Clematis Study Group
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-14 (2022)
Abstract Background There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cognitive functioning in
Externí odkaz:
https://doaj.org/article/82719940df4e43d5917b4ba65a910b48
Autor:
Elizabeth Berry-Kravis, Randi Hagerman, Jeannie Visootsak, Dejan Budimirovic, Walter E. Kaufmann, Maryann Cherubini, Peter Zarevics, Karen Walton-Bowen, Paul Wang, Mark F. Bear, Randall L. Carpenter
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 9, Iss 1, Pp 1-18 (2017)
Abstract Background Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and efficacy of arbaclofen f
Externí odkaz:
https://doaj.org/article/1600842ad64c4a2f93f317a6e4ba061b
Publikováno v:
Brain Sciences, Vol 8, Iss 12, p 214 (2018)
Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardatio
Externí odkaz:
https://doaj.org/article/c86f0b43801243679ecd9944e9371e82
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into rou
Externí odkaz:
https://doaj.org/article/a4f374232a134d75b978848d5557867d
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly sub
Externí odkaz:
https://doaj.org/article/652fc333d8a44ea8923d43a39984d0e4
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes. :539-562
Autor:
Celia, Goeldner, Priya S, Kishnani, Brian G, Skotko, Julian Lirio, Casero, Joerg F, Hipp, Michael, Derks, Maria-Clemencia, Hernandez, Omar, Khwaja, Sian, Lennon-Chrimes, Jana, Noeldeke, Sabine, Pellicer, Lisa, Squassante, Jeannie, Visootsak, Christoph, Wandel, Paulo, Fontoura, Xavier Liogier, d'Ardhuy, Alessandro, Zuddas
Publikováno v:
Journal of neurodevelopmental disorders. 14(1)
There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cognitive functioning in Down syndrome. Negat
Autor:
Rebecca D. Burdine, Raun D. Melmed, Cesar Ochoa-Lubinoff, Christina Holcroft, Wen-Hann Tan, Alexander Kolevzon, Matthew J. During, Amit Rakhit, Gali Heimer, Jeannie Visootsak, Ronald L. Thibert, Lynne M. Bird
Publikováno v:
Neurology, vol 96, iss 7
Neurology
article-version (Version of Record) 3
Neurology
article-version (Version of Record) 3
Objective:To evaluate safety and tolerability and exploratory efficacy endpoints for gaboxadol (OV101) compared with placebo in individuals with Angelman syndrome (AS).Methods:Gaboxadol is a highly selective orthosteric agonist that activates γ-subu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fdb581e048b70272a202eb67edce479
https://escholarship.org/uc/item/6w5697mb
https://escholarship.org/uc/item/6w5697mb
Autor:
Elizabeth Berry-Kravis, Joseph P. Horrigan, Nicole Tartaglia, Randi Hagerman, Alexander Kolevzon, Craig A. Erickson, Shivkumar Hatti, Mike Snape, Alex Yaroshinsky, George Stoms, Larry Glass, Nancy E. Jones, Kevin Sanders, Jean Frazier, Thomas Challman, Jeffrey Innis, Bryan King, Joseph Cubells, Jeannie Visootsak, Steven Skinner, Dianne Treadwell-Deering, Sherry Sellers Vinson, Howard Needelman
Publikováno v:
Pediatric neurology. 110
We analyze the safety and tolerability of trofinetide and provide a preliminary evaluation of its efficacy in adolescent and adult males with fragile X syndrome.This study was an exploratory, phase 2, multicenter, double-blind, placebo-controlled, pa
Autor:
Priya S. Kishnani, Jeannie Visootsak, Cesar Ochoa-Lubinoff, Nicole Bäumer, Brian G. Skotko, Xavier Liogier d'Ardhuy, Paul Tamburri, Maria-Clemencia Hernandez, Patrick Phuong, Sarah J. Hart, Gail A. Spiridigliozzi
Publikováno v:
American Journal of Medical Genetics Part A. 173:3029-3041
Although an increasing number of clinical trials have been developed for cognition in Down syndrome, there has been limited success to date in identifying effective interventions. This review describes the progression from pre-clinical studies with m