Results 61 to 70 of about 19,944 (229)
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Targeted resequencing of FMR1.
, 2013 The horizontal axis is formed by intronic sequence, and the numbered vertical spokes represent the 17 exons of FMR1. Coding exonic sequence is shown in blue, while noncoding exonic sequence is shown in white.
Elizabeth Berry-Kravis (366556) +9 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 more
wiley +1 more source
Bone Research, 2023 Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild
Padmini Deosthale +14 more
doaj +1 more source
Memantine stimulated the formation of total synapses in Fmr1-KO CGCs.
, 2013 Representative photomicrographs of labeling of Syp (arrow) in WT CGCs, Fmr1-KO CGCs and Fmr1-KO CGCs treated with memantine. Green, Syp; Blue, Hoechst, scale bars, 25 µm. The histogram shows quantification of puncta size using image analysis. WT, n = 23;
W. Ted Brown (167450) +5 more
core +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia Open, EarlyView.Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence
Journal of Neurodevelopmental Disorders, 2017 Background The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze
Jessica Klusek +4 more
doaj +1 more source
A fragile balance: FMR1 expression levels [PDF]
Human Molecular Genetics, 2003 The FMR1 gene is involved in three different syndromes, the Fragile X syndrome, premature ovarian failure (POF) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expanded CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein.
Oostra, Ben, Willemsen, Rob
openaire +3 more sources
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Molecular AutismBackground Fragile X syndrome (FXS) is the most common inherited intellectual disability, caused by the loss of fragile X mental retardation protein (FMRP), which regulates neuronal signaling and plasticity.
Evangelia Pollali +7 more
doaj +1 more source