Results 111 to 120 of about 870,271 (337)
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
On Wild-Type Iso-Alleles in Drosophila Melanogaster [PDF]
, 1943 Curt Stern, Elizabeth White Schaeffer
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Probabilistic expert systems for handling artifacts in complex DNA mixtures [PDF]
, 2009 This paper presents a coherent probabilistic framework for taking account of allelic dropout, stutter bands and silent alleles when interpreting STR DNA profiles from a mixture sample using peak size information arising from a PCR analysis.
Cowell, R. +2 more
core +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
Spatial and functional properties of pseudo-alleles at the white locus in Drosophila melanogaster [PDF]
, 1959 M M Green
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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
EFFECT OF THE DE17 ALLELE ON DEVELOPMENT OF THE MAIZE CARYOPSIS [PDF]
, 1947 R. A. Brink, D. C. Cooper
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The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
THE FAILURE OF A t-ALLELE (t3) TO SUPPRESS CROSSING OVER IN THE MOUSE [PDF]
, 1953 L. C. Dunn, Salome Gluecksohn‐Waelsch
openalex +1 more source