Methods for genomic evaluation of a relatively small genotyped dairy population and effect of genotyped cow information in multiparity analyses [PDF]
, 2014 Daniela Lourenço +7 more
openalex +1 more source
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey +2 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro +10 more
wiley +1 more source
A bumper crop of SNPs in soybean through high‐density genotyping‐by‐sequencing (HD‐GBS)
, 2021 Davoud Torkamaneh +4 more
openalex +1 more source
Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow +4 more
wiley +1 more source
Boceprevir for previously untreated patients with chronic hepatitis C Genotype 1 infection: a US-based cost-effectiveness modeling study [PDF]
, 2013 Shannon Ferrante +6 more
openalex +1 more source
Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt +5 more
wiley +1 more source
Bad Nature, Bad Nurture, and Testimony Regarding MAOA and SLC6A4 Genotyping in Murder Trials [PDF]
, 2007 Recent research—in which subjects were studied longitudinally from childhood until adulthood—has started to clarify how a child’s environment and genetic makeup interact to create a violent adolescent or adult.
Bernet, William +3 more
core +1 more source
How Do Novel M-Rootstock (Vitis Spp.) Genotypes Cope with Drought? [PDF]
, 2020 Davide Bianchi +4 more
openalex +1 more source