[HTML][HTML] Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
R Hagerman, P Hagerman - The Lancet Neurology, 2013 - thelancet.com
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …
[HTML][HTML] Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
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 …
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …
[HTML][HTML] Weak functional connectivity in the human fetal brain prior to preterm birth
ME Thomason, D Scheinost, JH Manning, LE Grove… - Scientific reports, 2017 - nature.com
It has been suggested that neurological problems more frequent in those born preterm are
expressed prior to birth, but owing to technical limitations, this has been difficult to test in …
expressed prior to birth, but owing to technical limitations, this has been difficult to test in …
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
P Hagerman - Acta neuropathologica, 2013 - Springer
Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia
syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized …
syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized …
Fragile X–associated tremor/ataxia syndrome
PJ Hagerman, RJ Hagerman - … of the New York Academy of …, 2015 - Wiley Online Library
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative
disorder that affects some but not all carriers of small, noncoding CGG‐repeat expansions …
disorder that affects some but not all carriers of small, noncoding CGG‐repeat expansions …
[HTML][HTML] Behavior problems and social competence in fragile X syndrome: A systematic review
O Cregenzan-Royo, C Brun-Gasca, A Fornieles-Deu - Genes, 2022 - mdpi.com
Fragile X syndrome (FXS) causes intellectual disability and is the known leading cause of
autism. Common problems in FXS include behavior and social problems. Along with …
autism. Common problems in FXS include behavior and social problems. Along with …
[HTML][HTML] Open-label allopregnanolone treatment of men with fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 …
disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 …
Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder typically affecting male premutation carriers with 55–200 CGG trinucleotide repeat …
disorder typically affecting male premutation carriers with 55–200 CGG trinucleotide repeat …
[HTML][HTML] CNS critical periods: implications for dystonia and other neurodevelopmental disorders
Critical periods are discrete developmental stages when the nervous system is especially
sensitive to stimuli that facilitate circuit maturation. The distinctive landscapes assumed by …
sensitive to stimuli that facilitate circuit maturation. The distinctive landscapes assumed by …
Cerebral microbleeds in fragile X–associated tremor/ataxia syndrome
MJ Salcedo‐Arellano, JY Wang… - Movement …, 2021 - Wiley Online Library
Background Fragile X–associated tremor/ataxia syndrome is a neurodegenerative disease
of late onset developed by carriers of the premutation in the fragile x mental retardation 1 …
of late onset developed by carriers of the premutation in the fragile x mental retardation 1 …