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 …
Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications
R Aishworiya, D Protic, R Hagerman - Journal of Neurology, 2022 - Springer
There is increasing recognition of the heterogeneity of origin of cases of autism spectrum
disorder (ASD) with multiple forms of ASD having been identified over the decades. Among …
disorder (ASD) with multiple forms of ASD having been identified over the decades. Among …
[HTML][HTML] Diverse Applications of the Anti-Diabetic Drug Metformin in Treating Human Disease
CT Roberts, N Raabe, L Wiegand, A Kadar Shahib… - Pharmaceuticals, 2024 - mdpi.com
Metformin is a commonly used drug for treating type 2 diabetes. Metformin is an inexpensive
drug with low/no side effects and is well tolerated in human patients of different ages. Recent …
drug with low/no side effects and is well tolerated in human patients of different ages. Recent …
An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion
LV Gabis, M Shaham, OL Attia, T Kowal… - Frontiers in …, 2023 - frontiersin.org
Objective Carriers of Fragile X premutation may have associated medical comorbidities,
such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated …
such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated …
Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation
N Maltman, A Sterling, E Santos, R Hagerman - Scientific Reports, 2024 - nature.com
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an age-related neurodegenerative
disorder caused by a premutation of the FMR1 gene on the X chromosome. Despite the …
disorder caused by a premutation of the FMR1 gene on the X chromosome. Despite the …
Neuropsychiatric feature-based subgrouping reveals neural sensory processing spectrum in female FMR1 premutation carriers: A pilot study
Introduction Fragile X Syndrome (FXS) is rare genetic condition characterized by a repeat
expansion (CGG) in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene where …
expansion (CGG) in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene where …
Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation
Purpose: The Fragile X Messenger Ribonucleoprotein-1 (FMR1) premutation (FXpm) is a
genetic variant that is common in the general population and is associated with health …
genetic variant that is common in the general population and is associated with health …
Evidence for Three Subgroups of Female FMR1 Premutation Carriers Defined by Distinct Neuropsychiatric Features: A Pilot Study
LM Schmitt, KC Dominick, R Liu… - Frontiers in Integrative …, 2022 - frontiersin.org
Over 200 Cytosine-guanine-guanine (CGG) trinucleotide repeats in the 5′ untranslated
region of the Fragile X mental retardation 1 (FMR1) gene results in a “full mutation,” clinically …
region of the Fragile X mental retardation 1 (FMR1) gene results in a “full mutation,” clinically …
Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study
The FMR1 premutation has been associated with difficulties in executive functioning,
including verbal inhibition. However, little is known about the longitudinal profiles of verbal …
including verbal inhibition. However, little is known about the longitudinal profiles of verbal …
A longitudinal study of parent-child interactions and language outcomes in fragile X syndrome and other neurodevelopmental disorders
Difficulties with pragmatic language (ie, language in social contexts, such as conversational
ability) are a noted characteristic of the language profiles of both fragile X syndrome (FXS) …
ability) are a noted characteristic of the language profiles of both fragile X syndrome (FXS) …