Results 81 to 90 of about 16,335 (162)

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 7, Page 909-915, July 2026.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti   +2 more
wiley   +1 more source

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

open access: yesBrain Sciences, 2018
Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardation ...
Anna W. Lee   +4 more
doaj   +1 more source

Fragile X Mental Retardation Protein in Learning-Related Synaptic Plasticity

open access: yesMolecules and Cells, 2009
Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP) due to silencing of the Fmr1 gene. As an RNA binding protein, FMRP is thought to contribute to synaptic plasticity by regulating plasticity-related protein synthesis and other signaling pathways.
Valentina, Mercaldo   +2 more
openaire   +2 more sources

Abstracts

open access: yesMolecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Muscle Specific Fragile X Related Protein 1 Isoforms are Sequestered in the Nucleus of Undifferentiated Myoblast

open access: yesBMC Genetics, 2000
Background The family of Fragile X Mental Retardation Proteins is composed of three members: Fragile Mental Retardation 1, Fragile X Related 1 and X Related 2 proteins.
Khandjian Edouard W   +2 more
doaj   +1 more source

Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2.

open access: yesPLoS ONE, 2010
BackgroundExpansion of the CGG trinucleotide repeat in the 5'-untranslated region of the FMR1, fragile X mental retardation 1, gene results in suppression of protein expression for this gene and is the underlying cause of Fragile X syndrome.
Melanie A Adams-Cioaba   +8 more
doaj   +1 more source

Aberrant differentiation of glutamatergic cells in neocortex of mouse model for fragile X syndrome

open access: yesNeurobiology of Disease, 2009
The lack of fragile X mental retardation protein (FMRP) causes fragile X syndrome, a common form of inherited mental retardation. Our previous studies revealed alterations in the differentiation of FMRP-deficient neural progenitors.
Topi A. Tervonen   +7 more
doaj   +1 more source

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