Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Nascent RNA Folding and RNP Assembly Revealed by Single-molecule Microscopy. [PDF]
J Mol BiolBustamante A +3 more
europepmc +1 more source
Editor's Note on 'Influence of correct secondary and tertiary RNA folding on the binding of cellular factors to the HCV IRES'. [PDF]
Nucleic Acids Res, 2023 europepmc +1 more source
Functional Roles of Chelated Magnesium Ions in RNA Folding and Function. [PDF]
Biochemistry, 2021 Yamagami R, Sieg JP, Bevilacqua PC.
europepmc +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Kinetic Traps in RNA Folding: Targeted Design of Frameshifting Element Mutants by Thermodynamic and Kinetic Analysis of the Chikungunya Virus. [PDF]
J Phys Chem BLee S, Schlick T.
europepmc +1 more source
Expression of concern on 'Influence of correct secondary and tertiary RNA folding on the binding of cellular factors to the HCV IRES'. [PDF]
Nucleic Acids Res, 2023 europepmc +1 more source
Web-based platform for analysis of RNA folding from high throughput chemical probing data. [PDF]
Nucleic Acids Res, 2022 Jurich CP +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin +14 more
wiley +1 more source