Results 91 to 100 of about 8,347 (127)

Essential tremor-like phenotype in Fragile X carrier women. [PDF]

Clin Park Relat Disord
Hall DA, Loesch D, Svymbersky T, Berry-Kravis E, Ouyang B.   +4 more
europepmc   +1 more source

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome. [PDF]

Orphanet J Rare Dis
Miranda MF, Faundes V, Alliende MA, Santa María L.   +3 more
europepmc   +1 more source

Psilocybin improves novel object recognition in a rat model of Fragile X Syndrome through the modulation of the BDNF/TrkB signaling pathway. [PDF]

Neuropsychopharmacology
Ascone F, Buzzelli V, Mottarlini F, Di Trapano M, Miglioranza P, Rava A, Feo A, Spano F, Hausman M, Sugaya K, Caffino L, Fumagalli F, Trezza V.   +12 more
europepmc   +1 more source

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male <i>FMR1</i> premutation carriers. [PDF]

Front Mol Neurosci
Elias-Mas A, Paracuellos-Ayala I, Wang JY, Kim K, Tassone F, Schneider A, Hessl D, Rivera SM, Hagerman RJ.   +8 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

Neonatal expression of human FMRP isoform corrects cortical deficits and improves behavior in a mouse model of fragile X syndrome. [PDF]

Mol Ther Nucleic Acids
Norman AO, Scaramella C, Biezonski D, Hector RD, Varallo A, Sahni A, Farooq N, Burstein SR, Benito J, Razak KA, Selfridge J, Cobb S, Ethell IM.   +12 more
europepmc   +1 more source

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women. [PDF]

Hum Reprod
Morbey EJ, Day FR, Wright DJ, Murzynowski JRA, McGlacken-Byrne SM, Murray A, Ong KK, Perry JRB.   +7 more
europepmc   +1 more source

Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome. [PDF]

Front Mol Neurosci
Zafarullah M, Ponzini M, Kim K, Hagerman PJ, Hagerman RJ, Tassone F.   +5 more
europepmc   +1 more source

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers. [PDF]

Sci Rep
Likhitweerawong N, Montanaro FAM, Santos ER, Wang JY, Dejputtawat W, Narasimhan U, Klusek J, Maltman N, Schneider A, Tassone F, Hagerman RJ.   +10 more
europepmc   +1 more source

The role of FMR1 mRNA structure on the efficiency of non-canonical translation of toxic polyglycine protein. [PDF]

Nucleic Acids Res
Niewiadomska D, Piasecka A, Baud A, Broniarek I, Sobczak K.   +4 more
europepmc   +1 more source