Results 141 to 150 of about 225,713 (333)

Towards Mechanism-Based Treatments for Fragile X Syndrome

Brain Sciences, 2019
Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000−8000 people worldwide [...]
Daman Kumari, Inbal Gazy
doaj   +1 more source

Channelopathies in fragile X syndrome

Nature Reviews Neuroscience, 2021
P. Deng, V. Klyachko
semanticscholar   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

CRISPR to the Rescue: Advances in Gene Editing for the FMR1 Gene

Brain Sciences, 2019
Gene-editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is promising as a potential therapeutic strategy for many genetic disorders.
Carolyn M. Yrigollen, Beverly L. Davidson   +1 more
doaj   +1 more source

Altered dendritic spine function and integration in a mouse model of fragile X syndrome

Nature Communications, 2018
Cellular and circuit hyperexcitability are core features of fragile X syndrome and related autism spectrum disorder models. However, the cellular and synaptic bases of this hyperexcitability have proved elusive.
Sam A. Booker, A. Domanski, OR Dando, A. Jackson, J. Isaac, G. Hardingham, D. Wyllie, P. Kind   +7 more
semanticscholar   +1 more source

Factors Associated With Hormone Replacement Therapy Use: A Systematic Review and Meta‐Analysis

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To identify factors associated with HRT uptake among women. Design A systematic review and meta‐analysis to identify factors associated with HRT uptake. Setting Retrospective and prospective cohort studies, case–control studies and cross‐sectional studies from any country and in any language. Population The study population was women
Wema Meranda Mtika, Deborah Allen, Eve Tranter, Grace Glover, Janice Hoang, Sarah Hillman, Carol Coupland, Julia Hippisley‐Cox, Lynn Tatnell, Jennifer A. Hirst   +9 more
wiley   +1 more source

Law enforcement policies for individuals with intellectual and developmental disabilities: A mixed‐methods analysis

Criminology &Public Policy, EarlyView.
Abstract Research Summary Individuals with intellectual and developmental disabilities (IDDs) face an elevated risk of victimization relative to their peers. Victims with IDD may view police departmental websites or policies to identify available accommodations in deciding to report their experience. The current study employs a convergent mixed‐methods
Cooper A. Maher, Brittany E. Hayes, Martha McCullough, Jacquelyn Burckley, Ráchael A. Powers, Amanda K. Simmons, Leigh Anne McKingsley   +6 more
wiley   +1 more source

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions

eNeurologicalSci
Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome
Kunihiko Ishizawa, Kentaro Hashimoto, Hironori Oka, Takashi Sugawara, Masakuni Amari, Takeshi Kawarabayashi, Koichi Okamoto, Chisato Tamai, Jun Sone, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +11 more
doaj   +1 more source

Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field [v1; ref status: indexed, http://f1000r.es/2mk]

F1000Research, 2013
It has become increasingly important that the field of behavioral genetics identifies not only the gross behavioral phenotypes associated with a given mutation, but also the behavioral endophenotypes that scale with the dosage of the particular mutation ...
Michael R. Hunsaker
doaj   +1 more source

Exposure to anesthesia during delivery and risk of autism spectrum disorder: A retrospective cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Cesarean delivery with general anesthesia was associated with a modestly increased risk of autism in offspring compared to vaginal delivery while cesarean delivery with neuraxial anesthesia was not. Similar findings were seen across different surgery types and ethnic groups, suggesting that general anesthesia may be relevant to autism risk.
Aviv Ben Kish, Yair Binyamin, Analya Michaelovski, Gal Meiri, Idan Menashe   +4 more
wiley   +1 more source