Results 91 to 100 of about 8,261 (127)

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

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

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

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

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

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

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +1 more source

The enigma of nuclear FMRP: facts and myths. [PDF]

Front Cell Dev Biol
Khandjian EW, Davidovic L.
europepmc   +1 more source

Cognitive dysfunction in women with the <i>FMR1</i> premutation during midlife: The LASSI-L reveals curvilinear CGG-dependent risk buffered by college education. [PDF]

J Alzheimers Dis
Klusek J, Gierman J, Fairchild AJ, Benitez AM, Berry-Kravis E, Mailick MR.   +5 more
europepmc   +1 more source

Prevalence of Fragile X syndrome in Georgian patients with autism spectrum disorder and/or intellectual disability: cross-sectional study and review of current approaches. [PDF]

Front Pediatr
Tabatadze N, Koniashvili O, Melikishvili G, Bienvenu T, Cuisset L, Tassone F, Protic DD, Naneishvili N, Zarandia M, Gverdtsiteli S, Kakabadze S, Gachechiladze T, Melikishvili M, Kuchukashvili Z, Giunashvili T, Silagava K, Mamardashvili G, Chipashvili M, Barabadze K, Abbeduto L, Hagerman RJ.   +20 more
europepmc   +1 more source