Associated Papers
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.
Hasan H et al.
Case Reports in Genetics, 2025
Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum by FMR1 variant P626L.
Fu J et al.
Brain Communications, 2025
Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.
Majumder M et al.
Critical Reviews in Biochemistry and Molecular Biology, 2020
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Sitzmann AF et al.
American Journal of Medical Genetics. Part A, 2018
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
Okray Z et al.
Embo Molecular Medicine, 2015
Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP.
Suhl JA et al.
Journal of Experimental Neuroscience, 2015
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