Results 61 to 70 of about 204 (76)

Prevalence and implications of fragile X premutation screening in Thailand. [PDF]

Sci Rep
Hnoonual A, Kaewfai S, Limwongse C, Limprasert P.   +3 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

Cognitive-behavioral phenotypes in <i>FMR1</i> premutation carriers: a cross-population comparison with mild cognitive impairment. [PDF]

Front Mol Neurosci
Maltman N, Greenlee J, Mueller KD, Fransway BB, Shira JT, Hammann D, Lee S, Lee H, Naderi Malek A.   +8 more
europepmc   +1 more source

Factor XI(a) Inhibition in Secondary Stroke Prevention: On the Cusp of a New Anticoagulation Paradigm. [PDF]

ACS Pharmacol Transl Sci
Al-Horani RA.
europepmc   +1 more source

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. [PDF]

Genes (Basel)
Doss RM, Lopez-Ignacio S, Dischler A, Hiatt L, Dashnow H, Breuss MW, Dias CM.   +6 more
europepmc   +1 more source

Insight and Recommendations for Fragile X-Premutation-Associated Conditions From the Fifth International Conference on FMR1 Premutation

Cells, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Randi J. Hagerman, Peng Jin, Dejan B Budimirovic   +2 more
exaly   +3 more sources

Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes

International Journal of Molecular Sciences, 2021
Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5’-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic
Luis M. Valor, Irati Hervás-Corpión
exaly   +2 more sources

Chapter Six. Once More, With Feelings: Fragile X– Associated Neuropsychiatric Disorders (FXAND)

, 2022
exaly   +2 more sources

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A Systematic Review of Fragile X–Associated Neuropsychiatric Disorders

Journal of Neuropsychiatry and Clinical Neurosciences, 2023
Joshua Flavell, Peter J Nestor
exaly