Results 81 to 90 of about 225,713 (333)

Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders.

Annual Review of Medicine, 2019
Fragile X syndrome (FXS) is the most frequent inherited form of intellectual disability and autism spectrum disorder. Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients ...
I. Gantois, J. Popić, A. Khoutorsky, N. Sonenberg   +3 more
semanticscholar   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Pathological Plasticity in Fragile X Syndrome

Neural Plasticity, 2012
Deficits in neuronal plasticity are common hallmarks of many neurodevelopmental disorders. In the case of fragile-X syndrome (FXS), disruption in the function of a single gene, FMR1, results in a variety of neurological consequences directly related to ...
Brandon S. Martin, Molly M. Huntsman
doaj   +1 more source

Molecular Biomarkers in Fragile X Syndrome

Brain Sciences, 2019
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and a known monogenic cause of autism spectrum disorder (ASD).
Marwa Zafarullah, Flora Tassone
doaj   +1 more source

Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome. [PDF]

, 2012
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing.
Borodyanskara, Mariya, Hagerman, Randi J, Schneider, Andrea, Winarni, Tri Indah   +3 more
core   +3 more sources

Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome.

Neurobiology of Disease, 2018
Identification of comparable biomarkers in humans and validated animal models will facilitate pre-clinical to clinical therapeutic pipelines to treat neurodevelopmental disorders.
J. Lovelace, I. Ethell, D. Binder, K. Razak   +3 more
semanticscholar   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

The molecular basis of the Fragile X syndrome

Journal of Experimental and Molecular Biology, 2023
This analysis aimed to clarify the molecular basis of fragile X syndrome and explain the role of genetic material in the genetic disease's development and treatment. Fragile X syndrome is an X-linked mutation inheritance disorder.
Harem Othman smail
doaj   +1 more source

Fragile X Syndrome: Steps towards Therapy [PDF]

, 2013
In a continuously developing society we are still confronted with intellectual disability (ID) and autism around us with quite a high prevalence. 1 in 88 children is diagnosed with autism spectrum disorder (ASD), while 2-3% of the general population is
Pop, A.S. (Andreea)
core  

Event-related potential alterations in fragile X syndrome [PDF]

, 2012
Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability (ID), associated with a wide range of cognitive and behavioral impairments.
Inga S. Knoth, Sarah Lippé
core   +1 more source