Results 51 to 60 of about 244,000 (312)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Metformin treatment in young children with fragile X syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Metformin is a drug commonly used in individuals with type 2 diabetes, obesity, and impaired glucose tolerance. It has a strong safety profile in both children and adults.
Hazel Maridith B. Biag, Laura A. Potter, Victoria Wilkins, Sumra Afzal, Alexis Rosvall, Maria Jimena Salcedo‐Arellano, Akash Rajaratnam, Ramiro Manzano‐Nunez, Andrea Schneider, Flora Tassone, Susan M. Rivera, Randi J. Hagerman   +11 more
doaj   +1 more source

Behavioral and biological divergence in monozygotic twin pairs discordant for autism phenotypes: A systematic review

JCPP Advances, 2021
Background Non‐shared environment (NSE) effects account for around one‐third of the etiology of autism spectrum disorder (ASD). However, the knowledge of mechanisms and phenotypic profiles associated with NSE in ASD is scarce. Methods A systematic search
Lynnea Myers, Pei‐Yin Pan, Karl Lundin Remnélius, Janina Neufeld, Peter B. Marschik, Ulf Jonsson, Sven Bölte   +6 more
doaj   +1 more source

Environmental and genetic influences on neurocognitive development: the importance of multiple methodologies and time-dependent intervention [PDF]

, 2014
Genetic mutations and environmental factors dynamically influence gene expression and developmental trajectories at the neural, cognitive, and behavioral levels.
Bryson S. E., Clahsen H., D’Souza D., Gopnik M., Guiraud J. A., Karmiloff-Smith A., Pinker S., Wexler K.   +7 more
core   +2 more sources

A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness. [PDF]

, 2020
Gastrointestinal infections can be life threatening, but not much is known about the host's genetic contribution to susceptibility to gastrointestinal infections or the latter's association with psychiatric disorders.
Appadurai, Vivek, Benros, Michael E, Buil, Alfonso, Bybjerg-Grauholm, Jonas, Børglum, Anders D, Daly, Mark J, Hougaard, David M, Mors, Ole, Mortensen, Preben Bo, Nordentoft, Merete, Nudel, Ron, Schork, Andrew J, Thompson, Wesley K, Werge, Thomas   +13 more
core   +2 more sources

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]

, 2019
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele, Cabaral, Margarita H, Cruz, Joshua, Durdle, Courtney, Harvey, Danielle, McCabe, Kathryn L, Popa, Abbie M, Simon, Tony J, Tartaglia, Nicole, Wong, Ling M   +9 more
core   +1 more source

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Using the maternal immune stimulation model of schizophrenia to investigate the therapeutic efficacy of neuromodulation techniques [PDF]

, 2020
The present work used a neurodevelopmental rodent model of schizophrenia, namely the maternal immune stimulation (MIS) model, to study the potency of electrical neuromodulation techniques to ameliorate and even prevent schizophrenia-relevant behavioral ...
Hadar, Ravit
core   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source