Results 151 to 160 of about 878,332 (327)
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
ENZYMATIC CLEAVAGE OF DIPHOSPHOPYRIDINE NUCLEOTIDE WITH RADIOACTIVE PYROPHOSPHATE
, 1951 Arthur Kornberg, W.E. Pricer
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Annals 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
Structure of Dihydrodiphosphopyridine Nucleotide [PDF]
, 1959 Sidney Shifrin, Nathan O. Kaplan
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
LIN28B Promotes Cancer Cell Dissemination and Angiogenesis
Advanced Biology, EarlyView.Children diagnosed with high‐risk neuroblastoma have a 5‐year event‐free survival rate of less than 50% and poor outcomes after recurrence. Deregulation of the LIN28B oncogene can be addressed in these patients. Upregulation of LIN28B is shown to support the metastatic cascade.
Diana Corallo +8 more
wiley +1 more source