Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Cryptographic protection of RGB images using SPN over Eisenstein integer ring modulo Eisenstein prime. [PDF]
Sajjad M +4 more
europepmc +1 more source
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch +5 more
wiley +1 more source
IntAct-U-ExM enables super-resolution imaging of isoform-specific actin networks across species. [PDF]
Dhar A +10 more
europepmc +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Description of a new species of the genus <i>Riukiaria</i> (Diplopoda, Polydesmida, Xystodesmidae) from eastern China, with the characterization of its complete mitochondrial genome. [PDF]
Han Z, Liu X, Wang J, Dong Y.
europepmc +1 more source
Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park +5 more
wiley +1 more source
Exploring exoplanet dynamics with JWST: Tides, rotation, rings, and moons. [PDF]
Millholland SC, Winn JN.
europepmc +1 more source
Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi +7 more
wiley +1 more source
Structure-Based Discovery of Glyoxalase-I Inhibitors: Evaluating the Role of Active Site Water Molecules. [PDF]
Anaam R, Isawi IH, Al-Balas Q.
europepmc +1 more source

