Results 191 to 200 of about 28,343 (239)

Regulatory role of LncRNA FMR1-AS1 in the pathogenesis of alzheimer's disease based on bioinformatics and in vitro experimental validation. [PDF]

Sci Rep
Yu X, Cai H, He C, Ouyang Z, Li Y, Chen L.   +5 more
europepmc   +1 more source

The imperative for multigenerational genetic screening: A case report of fragile X-associated tremor/ataxia syndrome (FXTAS). [PDF]

Medicine (Baltimore)
Huang Y, Huang Z, Wang Z, Tang W, Zhang X.   +4 more
europepmc   +1 more source

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders. [PDF]

Genome Med
Ek M, Kvarnung M, Ten Berk de Boer E, La Fleur L, Ljöstad L, Lyander A, Faergeman SL, Drue SO, Thonberg H, Nordgren A, Soller MJ, Wirta V, Eisfeldt J, Lindstrand A.   +13 more
europepmc   +1 more source

High-throughput assessment of <i>FMR1</i> and <i>SNRPN</i> methylation-based newborn screening using IsoPure and QIAcube HT systems. [PDF]

Epigenomics
Cartagena C, Alshawsh M, Bui MQ, Gamage D, Thakor RP, Pitt J, Greaves RF, Wall M, Saffery R, Amor DJ, Godler DE.   +10 more
europepmc   +1 more source

The downregulation of Autophagy in amygdala is sufficient to alleviate anxiety-like behaviors in Post-traumatic Stress Disorder model mice. [PDF]

Transl Psychiatry
Zhu Q, Zhou S, Fang S, Cai F, Zhang X, Li W, Huang Z, Yu K, Wang W.   +8 more
europepmc   +1 more source

Screening, Diagnosis, and Investigation of Global Developmental Delay and Intellectual Developmental Disorder. [PDF]

Cureus
Gouveia Lopes M, Alves AC, Pedrosa I, Lopes C, Lemos A, Pereira E, Henriques M.   +6 more
europepmc   +1 more source

Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum by <i>FMR1</i> variant P626L. [PDF]

Brain Commun
Fu J, Jiang W, Shen L, Fu J, Duan X, Liu D, Long J, Ye S, Tang L, Yi YH, Long YS.   +10 more
europepmc   +1 more source

FMR1 associated pathologies

, 2014
openaire   +1 more source

Hypoplasticity in sensory-driven neocortical circuits of the Fragile X syndrome mouse model

Bendova S, Creed A, Glynne-Percy A, Hoeh E, Dando OR, Kind PC, Williams LE.   +6 more
europepmc   +1 more source

FMRP regulates adult human cortical neuron excitability via cyclic-AMP signalling

Knops MJ, Meftah S, Wilson MA, Taylor LW, Bonthron C, Bilal A, Liaquat I, Brennan PM, Durrant CS, Booker SA.   +9 more
europepmc   +1 more source