Results 121 to 130 of about 1,163,092 (332)
Genetic Modifiers of Parkinson's Disease: A Case–Control Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik +15 more
wiley +1 more source
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Īlām, 2021 Introduction: The ACE gene encodes the angiotensin-converting enzyme (ACE), which is characterized by the presence of allele I or the absence of allele D of a 287-bp fragment.
Seyyed Rasoul Mousavi +2 more
doaj
On Wild-Type Iso-Alleles in Drosophila Melanogaster [PDF]
, 1943 Curt Stern, Elizabeth White Schaeffer
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Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan +12 more
wiley +1 more source
Spatial and functional properties of pseudo-alleles at the white locus in Drosophila melanogaster [PDF]
, 1959 M M Green
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han +9 more
wiley +1 more source
EFFECT OF THE DE17 ALLELE ON DEVELOPMENT OF THE MAIZE CARYOPSIS [PDF]
, 1947 R. A. Brink, D. C. Cooper
openalex +1 more source
Estimation of N-acetyltransferase 2 haplotypes [PDF]
N-Acetyltransferase 2 (NAT2) genotyping may result in a considerable percentage in several ambiguous allele combinations. PHASE 2.1 is a statistical program which is designed to estimate the probability of different allele combinations.
Blaszkewicz, Meinolf +5 more
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu +5 more
wiley +1 more source
Infection and Drug Resistance, 2020 Christina S Saghaug,1,2 Christian Klotz,3 Juha P Kallio,4 Toni Aebischer,3 Nina Langeland,1,2,5 Kurt Hanevik1 1Department of Clinical Science, University of Bergen, Bergen, Norway; 2Norwegian National Advisory Unit on Tropical Infectious Diseases ...
Saghaug CS +5 more
doaj