Results 161 to 170 of about 2,037,045 (319)

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals 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

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Improving Peripheral Venous Puncture Outcomes in ICU via Vein Grading Management. [PDF]

open access: yesMed Sci Monit
Wang Y   +7 more
europepmc   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano   +27 more
wiley   +1 more source

Peripheral Calcifying Epithelial Odontogenic Tumor Masquerading as Pyogenic Granuloma of Oral Cavity. [PDF]

open access: yesClin Case Rep
Sampoornam Pape Reddy S   +7 more
europepmc   +1 more source

STUDIES ON HYDRALAZINE; EVIDENCE FOR A PERIPHERAL SITE OF ACTION 1 [PDF]

open access: bronze, 1954
Albert J. Stunkard   +3 more
openalex   +1 more source

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