Results 141 to 150 of about 3,936,779 (293)
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
STUDIES ON THE METABOLISM OF PLASMA PROTEINS IN THE NEPHROTIC SYNDROME. I. ALBUMIN, γ-GLOBULIN AND IRON-BINDING GLOBULIN 1 [PDF]
David Gitlin+2 more
openalex +1 more source
Moyamoya Disease and the Risk of Parkinson's Disease
ABSTRACT Objectives Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored.
Dallah Yoo+9 more
wiley +1 more source
Tumours of the Nervus Acusticus and the Syndrome of the Cerebello-pontile Angle. By Cushing Harvey, M. D. W. B. Saunders Co., 1917. [PDF]
Archer Ryland
openalex +1 more source
Prevalence of Stroke and Diagnostic Performance of Emergency MRI in Acute Isolated Dizziness
ABSTRACT Objective Stroke is frequently misdiagnosed in patients presenting with acute isolated dizziness; the optimal imaging modality for this population remains debated. This study aimed to determine the prevalence of stroke among patients with isolated dizziness and to assess the diagnostic accuracy of magnetic resonance imaging (MRI) and computed ...
Xiao Hu+11 more
wiley +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
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
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin+12 more
wiley +1 more source
Coliforms As Related to the Hemorrhagic Syndrome
G.W. Anderson, S.J. Slinger, J.R. Couch
openalex +1 more source