Zobrazeno 1 - 10
of 455
pro vyhledávání: '"Flora, Tassone"'
Autor:
Mélodie Proteau-Lemieux, Inga Sophia Knoth, Saeideh Davoudi, Charles-Olivier Martin, Anne-Marie Bélanger, Valérie Fontaine, Valérie Côté, Kristian Agbogba, Keely Vachon, Kerri Whitlock, Hazel Maridith Barlahan Biag, Angela John Thurman, Cory Rosenfelt, Flora Tassone, Julia Frei, Lucia Capano, Leonard Abbeduto, Sébastien Jacquemont, David Hessl, Randi Jenssen Hagerman, Andrea Schneider, Francois Bolduc, Evdokia Anagnostou, Sarah Lippe
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-17 (2024)
Abstract Background Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual di
Externí odkaz:
https://doaj.org/article/e9da68f609ee45e5ac044e74d9c0b585
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:
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge
Publikováno v:
Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-7 (2024)
Abstract Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carrie
Externí odkaz:
https://doaj.org/article/3377385c90104102a02fb3c4967bb34b
Autor:
Pamela J. Yao, Apostolos Manolopoulos, Erden Eren, Susan Michelle Rivera, David R. Hessl, Randi Hagerman, Veronica Martinez‐Cerdeno, Flora Tassone, Dimitrios Kapogiannis
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1420-1429 (2024)
Abstract Objective Mitochondrial impairments have been implicated in the pathogenesis of Fragile X‐associated tremor/ataxia syndrome (FXTAS) based on analysis of mitochondria in peripheral tissues and cultured cells. We sought to assess whether mit
Externí odkaz:
https://doaj.org/article/250ef6e2b1bb4c48a42acf1c8976289e
Autor:
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone
Publikováno v:
SAGE Open Medicine, Vol 12 (2024)
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The
Externí odkaz:
https://doaj.org/article/4350d693f92447c5b032e073bc4ebe02
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
Autor:
Danuta Z. Loesch, Anna Atkinson, Deborah A. Hall, Flora Tassone, Paige Stimpson, Elsdon Storey
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundThere is evidence for a significant excess of kinetic upper limb tremor in non-FXTAS female FMR1 premutation carriers. The present study explores the possibility that this tremor is associated with various other features reminiscent of thos
Externí odkaz:
https://doaj.org/article/b7de074e7e544edba62deb799417e776
Autor:
Ramkumar Aishworiya, Ye Hyun Hwang, Ellery Santos, Bruce Hayward, Karen Usdin, Blythe Durbin-Johnson, Randi Hagerman, Flora Tassone
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Carriers of a premutation allele (PM) in the FMR1 gene are at risk of developing a number of Fragile X premutation asssociated disorders (FXPAC), including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-associated Primary Ova
Externí odkaz:
https://doaj.org/article/ff6e078df0a149d2940058c1155ed4ed
Autor:
Joseph M. Palumbo, Brian F. Thomas, Dejan Budimirovic, Steven Siegel, Flora Tassone, Randi Hagerman, Christopher Faulk, Stephen O’Quinn, Terri Sebree
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-10 (2023)
Abstract Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS). This review describes the ECS, its role in the cen
Externí odkaz:
https://doaj.org/article/3535becc2cfc44cc9aac3af5f1bbeae2
Autor:
Elizabeth Berry-Kravis, Randi Hagerman, Dejan Budimirovic, Craig Erickson, Helen Heussler, Nicole Tartaglia, Jonathan Cohen, Flora Tassone, Thomas Dobbins, Elizabeth Merikle, Terri Sebree, Nancy Tich, Joseph M. Palumbo, Stephen O’Quinn
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-15 (2022)
Abstract Background Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidiol therapy. Design CONNECT-FX was a double-blind, randomized phase 3 trial assessing efficacy and safety of Z
Externí odkaz:
https://doaj.org/article/9b2b2328cf084b42bc90fb9b752f13e7