Results 21 to 30 of about 6,083,486 (156)

Chloride imbalance in Fragile X syndrome

Frontiers in Neuroscience, 2022
Developmental changes in ionic balance are associated with crucial hallmarks in neural circuit formation, including changes in excitation and inhibition, neurogenesis, and synaptogenesis.
Kaleb Dee Miles, Caleb Andrew Doll
doaj   +1 more source

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

A phase 1/2, open-label assessment of the safety, tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric fragile X syndrome

Journal of Neurodevelopmental Disorders, 2019
Background Fragile X syndrome (FXS) is characterized by a range of developmental, neuropsychiatric, and behavioral symptoms that cause significant impairment in those with the disorder.
Helen Heussler, Jonathan Cohen, Natalie Silove, Nancy Tich, Marcel O. Bonn-Miller, Wei Du, Carol O’Neill, Terri Sebree   +7 more
doaj   +1 more source

STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]

, 2010
Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
core   +1 more source

Fragile-X Syndrome

Pediatric Neurology Briefs, 1988
A characteristic epileptogenic EEG pattern is described in five of 12 male subjects with fragile-X syndrome evaluated at the Instituto Oasi, via C. Ruggero, Troina, Italy, and Clinica Neurologica, II Universita Roma and Bologna, Italy.
J Gordon Millichap
doaj   +1 more source

From learning to memory: what flies can tell us about intellectual disability treatment.

Frontiers in Psychiatry, 2015
Intellectual disability (ID), previously known as mental retardation, affects 3 % of the population and remains without pharmacological treatment. ID is characterized by impaired general mental abilities with associated defects in adaptive function in ...
Alaura eAndroschuk, Basma eAl-Jabri, Francois eBolduc   +2 more
doaj   +1 more source

Surface electromyography applied to fragile X syndrome

, 2022
openÈ stata effettuata l'analisi dell'attività muscolare, attraverso l'elettromiografia di superficie, di 6 bambini affetti da sindrome X-fragile per valutare quantitativamente le alterazioni muscoloscheletriche in questi soggetti in condizioni ...
SIMONATO, GIULIA
core  

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy

Orphanet Journal of Rare Diseases
Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression.
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari   +8 more
doaj   +1 more source

Neuroanatomy of Fragile X Syndrome

Pediatric Neurology Briefs, 1991
Posterior fossa abnormalities measured by magnetic resonance images of the brain were reported in a group of 14 males with fragile X syndrome from the Division of Child Psychiatry, and the Departments of Psychiatry and Radiology, The Johns Hopkins ...
J Gordon Millichap
doaj   +1 more source

Fragile X Syndrome and Targeted Treatments

Journal of Biomedicine and Translational Research, 2020
Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, Randi Jenssen Hagerman   +3 more
doaj   +1 more source