Zobrazeno 1 - 10
of 342
pro vyhledávání: '"V. Strong"'
Autor:
Theresa V. Strong, Jennifer L. Miller, Shawn E. McCandless, Evelien Gevers, Jack A. Yanovski, Lisa Matesevac, Jessica Bohonowych, Shaila Ballal, Kristen Yen, Patricia Hirano, Neil M. Cowen, Anish Bhatnagar
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-9 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficult
Externí odkaz:
https://doaj.org/article/f5daf70833c04bcc97d36ae2f517d1a7
Autor:
Anne C. Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-8 (2023)
Abstract Objective The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 1
Externí odkaz:
https://doaj.org/article/434a381b379343b9abaa2e065df63406
Autor:
Lisa Matesevac, Caroline J. Vrana-Diaz, Jessica E. Bohonowych, Lauren Schwartz, Theresa V. Strong
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract The Hyperphagia Questionnaire for Clinical Trials (HQ-CT) is an observer-reported outcome measure that has been widely used in interventional studies to assess changes in hyperphagic behaviors in individuals with Prader-Willi syndrome (PWS).
Externí odkaz:
https://doaj.org/article/c447c2b93400458a87e5c6e1992cd453
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Schaaf‐Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternally expressed MAGEL2 gene in the Prader‐Willi syndrome‐region on chromosome 15q. In addition to hypotonia and intellectu
Externí odkaz:
https://doaj.org/article/17e778444bf34e84b0ef5b5d714fb4df
Autor:
Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P. Schaaf, Anna Malovannaya, Theresa V. Strong, Surabi Veeraragavan, Rodney C. Samaco
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 2 (2023)
Externí odkaz:
https://doaj.org/article/79466f972a5047ff8794b4cf8832cc73
Publikováno v:
BMC Psychiatry, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Introduction Prader–Willi syndrome (PWS) is a rare, genetic, neurodevelopmental syndrome associated with hyperphagia and early onset obesity, growth and sex hormone insufficiencies, mild-to-moderate intellectual disability, and behavioral
Externí odkaz:
https://doaj.org/article/7b878ba086364b88b73f2c41c7c4d162
Autor:
Jessica E. Bohonowych, Caroline J. Vrana-Diaz, Jennifer L. Miller, Shawn E. McCandless, Theresa V. Strong
Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-6 (2021)
Abstract Background There is a relative lack of information on the incidence and treatment of vision problems in Prader-Willi syndrome (PWS). Using data from the Global PWS Registry, we performed a cross-sectional study of vision problems in PWS. Met
Externí odkaz:
https://doaj.org/article/c427d998da3c4b919310d0b64cf9ae9d
Autor:
Caroline J. Vrana-Diaz, Priya Balasubramanian, Nathalie Kayadjanian, Jessica Bohonowych, Theresa V. Strong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder in which hyperphagia (excessive appetite) is a hallmark feature. Understanding how weight changes over time in this population is important for capturing the contem
Externí odkaz:
https://doaj.org/article/ad08588d634547b6a4d11b0314d55abb
Autor:
Jessica V. Strong, Maria Arnold, Lydia Schneider, Johanna Perschl, Arno Villringer, Thomas Hans Fritz
Publikováno v:
Brain Sciences, Vol 12, Iss 9, p 1260 (2022)
Prior research demonstrates that music making, physical exercise, and social activity have unique, positive effects on cognition and mood. One intervention, “Jymmin®”, was developed incorporating these approaches and found effective for decrease
Externí odkaz:
https://doaj.org/article/fff278b91cc747df945a21f3df8ae662
Publikováno v:
Value in Health. 26:243-250
To facilitate the development of new therapies for Prader-Willi syndrome (PWS), we sought to develop a reliable and valid assessment of anxiousness and distress, common characteristics that have a significant negative impact on individuals with PWS a