Results 141 to 150 of about 603,390 (338)
FEBS Open Bio, EarlyView.Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah +8 more
wiley +1 more source
Closure to “Fatigue of Grouted Sleeve Reinforcing Bar Splices” [PDF]
, 1969 Don L Ivey
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun +21 more
wiley +1 more source
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
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
In vitro RNA-RNA splicing in adenovirus 2 mRNA formation. [PDF]
, 1978 J. M. Blanchard +3 more
openalex +1 more source
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
BKV splice sequences based on analysis of preferred donor and acceptor sites [PDF]
, 1979 I. Seif, George Khoury, Ravi Dhar
openalex +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
Splicing of SV40 late mRNA is a post-transcriptional process [PDF]
, 1978 Mia Horowitz +3 more
openalex +1 more source