Fragile X syndrome
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion,
named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27. 3; which …
named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27. 3; which …
Exploring the potential of small molecule-based therapeutic approaches for targeting trinucleotide repeat disorders
In recent years, neurological disorders have globally become a leading cause of disability
and death. Neurological disorders are very common in both high-and low-income countries …
and death. Neurological disorders are very common in both high-and low-income countries …
Brief report: implementation of a specific carbohydrate diet for a child with autism spectrum disorder and Fragile X syndrome
K Barnhill, M Devlin, HT Moreno, A Potts… - Journal of autism and …, 2020 - Springer
This brief report examines the implementation of dietary intervention utilizing the specific
carbohydrate diet (SCD) for the management of gastrointestinal issues in a 4 year old boy …
carbohydrate diet (SCD) for the management of gastrointestinal issues in a 4 year old boy …
One-carbon metabolism in neurodevelopmental disorders: using broad-based nutraceutics to treat cognitive deficits in complex spectrum disorders
L Schaevitz, J Berger-Sweeney, L Ricceri - Neuroscience & Biobehavioral …, 2014 - Elsevier
Folate and choline, two nutrients involved in the one-carbon metabolic cycle, are intimately
involved in regulating DNA integrity, synthesis, biogenic amine synthesis, and methylation …
involved in regulating DNA integrity, synthesis, biogenic amine synthesis, and methylation …
What has been done to improve learning for intellectual disability? An umbrella review of published meta‐analyses and systematic reviews
KAF De Alvarenga, WL De Alcântara… - Journal of Applied …, 2023 - Wiley Online Library
Background Intellectual disability (ID) affects 1%–3% of the paediatric population. Currently,
there is no consensus as to the most effective strategies for improving the learning skills of …
there is no consensus as to the most effective strategies for improving the learning skills of …
Inhibitors of Histone Deacetylases Are Weak Activators of the FMR1 Gene in Fragile X Syndrome Cell Lines
AA Dolskiy, VO Pustylnyak… - BioMed Research …, 2017 - Wiley Online Library
Fragile X syndrome is the most common cause of inherited intellectual disability in humans.
It is a result of CGG repeat expansion in the 5′ untranslated region (5′ UTR) of the FMR1 …
It is a result of CGG repeat expansion in the 5′ untranslated region (5′ UTR) of the FMR1 …
Treatment of cognitive deficits in genetic disorders: a systematic review of clinical trials of diet and drug treatments
T van der Vaart, IE Overwater, R Oostenbrink… - JAMA …, 2015 - jamanetwork.com
Importance Knowing the underlying etiology of intellectual disability in genetic disorders
holds great promise for developing targeted treatments. Although successful preclinical …
holds great promise for developing targeted treatments. Although successful preclinical …
Sindrome de X Fragil.
El Síndrome de X Frágil (SXF), es una enfermedad genética debida a una expansión del
trinucleótido CGG, nombrada mutación completa (más de 200 repeticiones de CGG) en el …
trinucleótido CGG, nombrada mutación completa (más de 200 repeticiones de CGG) en el …
Autismus-Spektrum-Störungen
Psychopharmakologische Ansätze bei Autismus-Spektrum-Störungen sind aktuell vor allem
darauf gerichtet, bestimmte, teilweise auch nur komorbide, auftretende Verhaltensweisen …
darauf gerichtet, bestimmte, teilweise auch nur komorbide, auftretende Verhaltensweisen …
Autism spectrum disorders
CM Freitag, TA Jarczok - Psychiatric Drugs in Children and Adolescents …, 2014 - Springer
Autism spectrum disorders (ASD) comprise autism/autistic disorder (ICD-10: F84. 0; DSM-IV
TR: 299.00), Asperger syndrome/disorder (ICD-10: F84. 5; DSM-IV TR: 299.80), and atypical …
TR: 299.00), Asperger syndrome/disorder (ICD-10: F84. 5; DSM-IV TR: 299.80), and atypical …