Results 141 to 150 of about 1,309,818 (329)
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 +12 more
wiley +1 more source
Replica symmetry breaking in an adiabatic spin-glass model of adaptive evolution
, 2011 We study evolutionary canalization using a spin-glass model with replica theory, where spins and their interactions are dynamic variables whose configurations correspond to phenotypes and genotypes, respectively.
Ayaka Sakata +11 more
core +1 more source
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
Libyan Journal of Medicine, 2008 INTRODUCTION: Although the prevalence of hepatitis virus infections in Pakistan is still unknown, limited data indicate that the exposure rate to HBV is 35-38% with 4% being carriers and 32% having anti-HBV surface antibodies through natural conversion ...
Kazmi SU, Hakim ST, Bagasra O
doaj
Molecular Characterization, Population Structure Analysis, and Association Mapping of Turkish Parsley Genotypes Using iPBS Markers [PDF]
, 2023 Ömer Faruk Çoşkun
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
Carcass and meat quality of different pig genotypes in an organic extensive outdoor fatting system [PDF]
, 2006 Carcass, meat, and fat quality were evaluated of 37 castrates of 4 different genotypes [Pi*Du*GLR (10), Pi*AS (7), Du (10), Du*GLR (10)] kept on grass clover and fed with coarse meal made up of farm grown cereal and grain legumes without optimising the ...
Biedermann, Günter +2 more
core
Effects of CYP1A2 and ADORA2A Genotypes on the Ergogenic Response to Caffeine in Professional Handball Players [PDF]
, 2020 Alejandro Muñoz +6 more
openalex +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