A Genome-Wide Association Study of Neuroticism in a Population-Based Sample [PDF]
, 2010 Neuroticism is a moderately heritable personality trait considered to be a risk factor for developing major depression, anxiety disorders and dementia. We performed a genome-wide association study in 2,235 participants drawn from a population-based study
Antoniades, A +11 more
core +6 more sources
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
International Journal of Medical Students, 2022 The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the ...
Manuel Alejandro Vásquez Salguero +1 more
doaj
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]
, 2019 BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina +8 more
core
DNA methylation and DNA methyltransferases [PDF]
, 2017 The prevailing views as to the form, function, and regulation of genomic methylation patterns have their origin many years in the past, at a time when the structure of the mammalian genome was only dimly perceived, when the number of protein-encoding ...
Bestor, Timothy H +3 more
core +3 more sources
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders
Brain Sciences, 2018 Males and females sometimes significantly differ in their propensity to develop neurological disorders. Females suffer more from mood disorders such as depression and anxiety, whereas males are more susceptible to deficits in the dopamine system ...
Paulo Pinares-Garcia +4 more
doaj +1 more source
Mouse models of aneuploidy to understand chromosome disorders. [PDF]
Mamm Genome, 2022 Tosh J, Tybulewicz V, Fisher EMC.
europepmc +1 more source
Sequence Variants of Genes PRKN of 6q26 and ERMARD, DLL1 and TBP of 6q27 Associated To Neurological Disorders Providing Relevant Clues for Evaluation of Genotype-Phenotype Correlation of Chromosome 6q Terminal Deletions [PDF]
, 2022 Enrique Nogueira
openalex +1 more source