Results 231 to 240 of about 40,130 (258)
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Neuropharmacology, 2014
Fragile X syndrome (FXS) is a monogenic disorder that is caused by the absence of FMR1 protein (FMRP). FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse function underlying cognitive impairment, autism, and behavioral disturbance. Abnormalities in dendritic spines and synaptic transmission in
Maija L, Castrén, Eero, Castrén
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Fragile X syndrome (FXS) is a monogenic disorder that is caused by the absence of FMR1 protein (FMRP). FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse function underlying cognitive impairment, autism, and behavioral disturbance. Abnormalities in dendritic spines and synaptic transmission in
Maija L, Castrén, Eero, Castrén
openaire +2 more sources
A Family with Fragile-X Syndrome
The Journal of Nervous and Mental Disease, 1984A family with fragile-X syndrome is reported. One sibling has atypical pervasive developmental disorder and moderate mental retardation. A second sibling has Tourette's syndrome, moderate mental retardation, seizure disorder, and autism. A third sibling has attention deficit disorder, moderate mental retardation, and developmental language disorder ...
J, Kerbeshian, L, Burd, J, Martsolf
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Autism and the Fragile X Syndrome
Journal of Developmental & Behavioral Pediatrics, 1983Ten patients with the fragile X syndrome were diagnosed at the Child Development Unit in 1982. Six of these patients are autistic and demonstrate similar profiles on three evaluations designed to measure the severity of autism. The similarities of these six autistic patients are described in depth.
A, Levitas +5 more
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Archivio stomatologico, 1990
The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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microRNAs and Fragile X Syndrome
2015Fragile X syndrome (FXS) is one of the major causes for autism and mental retardation in humans. The etiology of FXS is linked to the expansion of the CGG trinucleotide repeats, r(CGG), suppressing the fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a loss of fragile X mental retardation protein (FMRP) expression, which is ...
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Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
International Journal of Molecular Sciences, 2022Randi Hagerman +2 more
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ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome
Cell, 2020Nelli Mnatsakanyan +2 more
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Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene
Cell, 2018Charles Han Li +2 more
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Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders
Annual Review of Medicine, 2019Jelena Popić +2 more
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