Results 131 to 140 of about 43,318 (306)

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper   +25 more
wiley   +1 more source

Life history and genotypic data used in this study

open access: yes, 2014
Life history traits were measured under common-garden conditions on a set of families stemming from 14 populations of the freshwater snail Lymnaea stagnalis. Each family is identified in the file as G0 (wild-caught parent).
Marie-Agnès Coutellec (627878)   +9 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals 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

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

Rainfed lowland rice breeding strategies for northeast Thailand. I. Genotypic variation and genotype x environment interactions for grain yield

open access: yes, 1999
The magnitude and nature of genotype-by-environment (G x E) interactions for grain yield, days-to-flower and plant height of rainfed lowland rice in Northeast Thailand were examined using random F-7 lines from seven crosses developed by the Thai breeding
Immark, S.   +9 more
core   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

open access: yesAnnals 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

Estimation of Variance Components of Quantitative Traits in Inbred Populations

open access: yes, 2000
SummaryUse of variance-component estimation for mapping of quantitative-trait loci in humans is a subject of great current interest. When only trait values, not genotypic information, are considered, variance-component estimation can also be used to ...
Ober, Carole   +2 more
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals 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

Effect of Implementing a Dashboard With or Without a Best Practice Alert on HLA‐B*58:01 Testing Rates Among Allopurinol Users at VA Medical Centers

open access: yesArthritis Care &Research, EarlyView.
Objective The American College of Rheumatology recommends HLA‐B*58:01 allele testing before the initiation of allopurinol, specifically among Asian and African American/Black patients, due to their increased risk for severe hypersensitivity reactions. However, testing rates remain low at many health care facilities.
Abimbola Fadairo‐Azinge   +6 more
wiley   +1 more source

Mass selection in maize composites by means of selection indices

open access: yes, 1972
General considerationsA selection index may be applied to selection based either upon the performance of single plants or upon the performance of progenies.
Wolff, F., de
core  

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