Zobrazeno 1 - 10
of 79
pro vyhledávání: '"P J, Hagerman"'
Autor:
Danuta Z. Loesch, Freddy Chafota, Minh Q. Bui, Elsdon Storey, Anna Atkinson, Nicholas G. Martin, Scott D. Gordon, Miguel E. Rentería, Randi J. Hagerman, Flora Tassone
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Premutation alleles of the FMR1 X‐linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late‐onset neurological involvements, including most severe disorder termed Fragile X‐associat
Externí odkaz:
https://doaj.org/article/de57b6e3ca4d47b9b3ab494f8af25f04
Autor:
Panhaneath Seng, Federica Alice Maria Montanaro, Hazel Maridith Barlahan Biag, Maria Jimena Salcedo-Arellano, Kyoungmi Kim, Matthew Dominic Ponzini, Flora Tassone, Andrea Schneider, Leonard Abbeduto, Angela John Thurman, David Hessl, Francois V. Bolduc, Sebastien Jacquemont, Sarah Lippé, Randi J. Hagerman
Publikováno v:
Frontiers in Psychology, Vol 15 (2024)
IntroductionMetformin has been used as a targeted treatment to potentially improve cognition and slow the typical IQ decline that occurs during development among individuals with fragile X syndrome (FXS). In this follow-up study, we are following the
Externí odkaz:
https://doaj.org/article/cb7ce96699c24474b763bd28cf2d2d6c
Publikováno v:
Obesity Science & Practice, Vol 9, Iss 4, Pp 364-375 (2023)
Abstract Introduction Many adults with overweight or obesity experience subclinical symptoms of depression, but little is known about how such symptoms are associated with physical activity (PA) or the experience of PA during behavioral weight loss (
Externí odkaz:
https://doaj.org/article/c7e4f25ccdb34a328dcf3197c3cff0d1
Autor:
Meghan L. Butryn PhD, Charlotte J. Hagerman PhD, Nicole T. Crane MS, Marny M. Ehmann MS, Evan M. Forman PhD, Brandy-Joe Milliron PhD, Nicole L. Simone MD
Publikováno v:
Cancer Control, Vol 30 (2023)
Objectives Prevention programs that can help adults improve the quality of their diets to reduce cancer risk are needed. This Phase IIa study prospectively tested a mHealth intervention designed to improve adherence to dietary quality guidelines for
Externí odkaz:
https://doaj.org/article/c6a82b18cedb4826857af30022344d05
Autor:
Lianni Mei, Chunchun Hu, Dongyun Li, Ya Wang, Huiping Li, Kaifeng Zhang, Bingrui Zhou, Ruoping Zhu, Randi J. Hagerman, Xiu Xu, Qiong Xu
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Externí odkaz:
https://doaj.org/article/db0b54c899f043088640635a84ffa51d
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-21 (2022)
Abstract No proven prognosis is available for the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Artificial neural network analyses (ANN) were used to predict FXTAS progression using data from 127 adults (noncarriers
Externí odkaz:
https://doaj.org/article/fadbbf64766b4a7db1aed53ae08c3d37
Autor:
Jessica Famula, Emilio Ferrer, Randi J. Hagerman, Flora Tassone, Andrea Schneider, Susan M. Rivera, David Hessl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Carriers of the FMR1 premutation are at increased risk of developing a late-onset progressive neurodegenerative disease, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by intention tremor, gait ataxia, and cogn
Externí odkaz:
https://doaj.org/article/5468b4155c244ec69f79ce5c63376024
Autor:
Lianni Mei, Chunchun Hu, Dongyun Li, Ya Wang, Huiping Li, Kaifeng Zhang, Bingrui Zhou, Ruoping Zhu, Randi J. Hagerman, Xiu Xu, Qiong Xu
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionFragile X syndrome (FXS) is a X-linked neurodevelopmental disorder (NDD). This study aims to investigate the incidence of FXS in Chinese children and analyze the comprehensive clinical characteristics of these FXS children.MethodsChildren
Externí odkaz:
https://doaj.org/article/5350c572437d4fd5aec56187a961e90e
Autor:
Si Jie Tang, Shanthi Giri, Nima Pahlavan, Sophia H. Han, Ellery R. Santos, Glenda Espinal, Ramkumar Aishworiya, Andrea Schneider, David Hessl, Susan M. Rivera, Randi J. Hagerman
Publikováno v:
Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement
Externí odkaz:
https://doaj.org/article/68a848a9a65b480895be8b29eb1a4633
Autor:
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Publikováno v:
Cells, Vol 12, Iss 18, p 2330 (2023)
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms lead
Externí odkaz:
https://doaj.org/article/a0b6f75a833d4184b35d72147f86dffc