Results 51 to 60 of about 225,713 (333)

Fragile X astrocytes induce developmental delays in dendrite maturation and synaptic protein expression [PDF]

, 2010
BackgroundFragile X syndrome is the most common inherited form of mental impairment characterized by cognitive impairment, attention deficit and autistic behaviours.
Shelley Jacobs, Meera Nathwani, Laurie C Doering   +2 more
core   +1 more source

Screening for fragile X syndrome.

Health Technology Assessment, 1997
: BACKGROUND AND AIM OF REVIEW. In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood.
Murray, Cuckle, Taylor, Hewison
doaj   +1 more source

Auditory EEG Biomarkers in Fragile X Syndrome: Clinical Relevance

Frontiers in Integrative Neuroscience, 2019
Sensory hypersensitivities are common and distressing features of Fragile X Syndrome (FXS). While there are many drug interventions that reduce behavioral deficits in Fmr1 mice and efforts to translate these preclinical breakthroughs into clinical trials
Lauren E. Ethridge, L. D. De Stefano, Lauren M. Schmitt, Nicholas Woodruff, K. L. Brown, M. Tran, Jun Wang, E. Pedapati, C. Erickson, J. Sweeney   +9 more
semanticscholar   +1 more source

Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome

Nature Communications, 2022
Dysregulated protein synthesis is key contributor to Fragile X syndrome. Here the authors identify a relationship between ribosome expression and the translation of long mRNAs that contributes to synaptic weakening in a model of Fragile X syndrome.
Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil   +11 more
doaj   +1 more source

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. [PDF]

, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Aydin, Elber Yuksel, Hagerman, Randi J, Martínez-Cerdeño, Veronica, Perlman, Susan, Protic, Dragana, Schneider, Andrea, Tang, Hiu-Tung, Tassone, Flora, Wang, Jun Yi   +8 more
core   +2 more sources

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. [PDF]

PLoS ONE, 2015
Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability.
Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy   +11 more
doaj   +1 more source

Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population [PDF]

, 2013
Article focus▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population.
Anderson, V., Archibald, A., Carter, R., Cohen, J., Delatycki, M., Donath, S., Emery, J., Halliday, J., Hill, M., Martyn, M., Metcalfe, S., Sheffield, L., Slater, H., Tassone, F., Younie, S.   +14 more
core   +1 more source

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

Nature reviews. Drug discovery, 2017
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden.
E. Berry-Kravis, L. Lindemann, A. Jønch, George G Apostol, M. Bear, Randall L. Carpenter, J. Crawley, A. Curie, V. Portes, F. Hossain, F. Gasparini, B. Gomez-Mancilla, D. Hessl, E. Loth, S. Scharf, Paul P. Wang, F. Raison, R. Hagerman, W. Spooren, S. Jacquemont   +19 more
semanticscholar   +1 more source

Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain

Genetics and Molecular Biology, 2002
Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain.
Yolanda de Diego, Abdelkrim Hmadcha, Francisco Moron, Miguel Lucas, Mercedes Carrasco, Elizabeth Pintado   +5 more
doaj   +1 more source

Emerging role of the KCNT1 Slack channel in intellectual disability [PDF]

, 2014
The sodium-activated potassium KNa channels Slack and Slick are encoded by KCNT1 and KCNT2, respectively. These channels are found in neurons throughout the brain, and are responsible for a delayed outward current termed IKNa.
Grace E. Kim, Leonard K. Kaczmarek
core   +2 more sources