Results 101 to 110 of about 109,973,714 (148)

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]

Mol Genet Genomic Med
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc   +1 more source

SMCHD1 Is Dispensable for Repeat-Induced FMR1 Hypermethylation in Fragile X Pluripotent Stem Cells. [PDF]

Int J Mol Sci
Aviel U, Kababw-Florentin A, Abu Diab M, Drier Y, Epsztejn-Litman S, Eiges R.   +5 more
europepmc   +1 more source

Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation. [PDF]

BMJ Case Rep
Viteri V, Parada MF, Santos ER, Biag HMB, Schneider A, Villarreal J, Trotter JF, Hagerman RJ.   +7 more
europepmc   +1 more source

Aberrant Emotion-Cognition Integration in <i>FMR1</i> Premutation Carriers: A fNIRS Study. [PDF]

eNeuro
Bian Y, Li Y, Zhu Y, Li D, Geng Y, Guan S, Feng D, Li R, Xu Q.   +8 more
europepmc   +1 more source

DETERMINING WHETHER MEMANTINE NORMALIZES ABNORMAL BEHAVIORAL PHENOTYPES IN A MOUSE MODEL OF FRAGILE X SYNDROME

Fragile X syndrome is the most common inherited contributor to intellectual disability and autismspectrum disorder. Fragile X syndrome is caused by the mutation of the Fmr1 gene, which iscrucial for producing the Fragile X Messenger Ribonucleoprotein 1 ...
Chan, Leo
core  

The role of selected single-point mutations in the Fragile-X Messenger Ribonucleoprotein: from (mis)folding properties to Liquid-Liquid Phase Separation

Fragile X Messenger Ribonucleoprotein (FMRP) is an RNA-binding protein implicated in cognitive development that plays a key role in RNA metabolism, and synaptic plasticity. FMRP is involved in Fragile X syndrome (FXS), a genetic disorder representing the
CATALANO, FLAVIA
core  

Knowledge, attitudes, and perspectives on gene therapy for Fragile X syndrome: results from two community and caregiver surveys. [PDF]

Front Mol Neurosci
Chen V, Vomvos M, De Sonia A, Rosselot H, Lozano R.   +4 more
europepmc   +1 more source

Targeting autophagy for postsynaptic organization and cognitive rescue in Fragile X syndrome. [PDF]

Neural Regen Res
Keyser C, Richardson SJ, Yan J.
europepmc   +1 more source

Circular RNAs in Neurons: From Transport to Function. [PDF]

Noncoding RNA
Salvi N, Morlando M.
europepmc   +1 more source

Age-Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome. [PDF]

Dev Neurobiol
Farooqi NNU, Nyengaard JR, Banke TG.
europepmc   +1 more source