Fragile X-associated tremor/ataxia syndrome—features, mechanisms and management
RJ Hagerman, P Hagerman - Nature Reviews Neurology, 2016 - nature.com
Many physicians are unaware of the many phenotypes associated with the fragile X
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …
[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] Fragile X-associated tremor/ataxia syndrome (FXTAS): pathophysiology and clinical implications
AM Cabal-Herrera, N Tassanakijpanich… - International journal of …, 2020 - mdpi.com
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …
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] Novel treatments for autism spectrum disorder based on genomics and systems biology
D Baribeau, E Anagnostou - Pharmacology & therapeutics, 2022 - Elsevier
Background Autism spectrum disorder (ASD) is a highly heterogeneous
neurodevelopmental disorder with a complex underlying genetic architecture. There are …
neurodevelopmental disorder with a complex underlying genetic architecture. There are …
Fragile X-associated tremor/ataxia syndrome: pathophysiology and management
R Hagerman, P Hagerman - Current opinion in neurology, 2021 - journals.lww.com
The premutation occurs in 1: 200 females and 1: 400 males. Penetrance for FXTAS
increases with age, though lower in females (16%) compared to over 60% of males by age …
increases with age, though lower in females (16%) compared to over 60% of males by age …
Mouse models of fragile X-related disorders
R Willemsen, RF Kooy - Disease Models & Mechanisms, 2023 - journals.biologists.com
The fragile X-related disorders are an important group of hereditary disorders that are
caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by …
caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by …
[HTML][HTML] Emerging topics in FXTAS
Emerging topics in FXTAS | Journal of Neurodevelopmental Disorders Skip to main content
Advertisement SpringerLink Account Menu Find a journal Publish with us Track your …
Advertisement SpringerLink Account Menu Find a journal Publish with us Track your …
[HTML][HTML] The cognitive neuropsychological phenotype of carriers of the FMR1 premutation
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) …
disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) …
[HTML][HTML] Fragile X syndrome and fragile X-associated disorders
A Rajaratnam, J Shergill, M Salcedo-Arellano… - …, 2017 - ncbi.nlm.nih.gov
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent
lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the …
lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the …