Results 131 to 140 of about 863,797 (309)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
FREQUENCY OF HEPATITIS C VIRUS GENOTYPES IN THE NORTH OF PAKISTAN
Gomal Journal of Medical Sciences, 2014 Background: The prevalence of hepatitis C infection is high in Pakistan. Up till now six genotypes have been identified. Genotype 3 is the most prevalent form in Pakistan.
Taj Muhammad Khan +4 more
doaj
imputed-seq-genotypes-Chr6.88540000-89540000.vcf
, 2017 Imputed genotypes for variants within 1Mbp of the Chr6:89.04 LC QTL, for 357 ...
Thomas Lopdell (511314) +21 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
imputed-seq-genotypes-12k-Chr5.43660000-44660000.vcf
, 2017 Imputed genotypes for variants within 1Mbp of the Chr5:44.16 LC QTL, for 12,000 ...
Thomas Lopdell (511314) +21 more
core +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
imputed-seq-genotypes-12k-Chr5.31060000-32060000.vcf
, 2017 Imputed genotypes for variants within 1Mbp of the Chr5:31.56 LC QTL, for 12,000 ...
Thomas Lopdell (511314) +21 more
core +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
imputed-seq-genotypes-Chr5.20640000-21640000.vcf
, 2017 Imputed genotypes for variants within 1Mbp of the Chr5:21.14 LC QTL, for 357 ...
Thomas Lopdell (511314) +21 more
core +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source