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
A Hierarchical Sensor Data Fusion and Roving Sensor Network Framework for Structural Health Monitoring: Application to Bridge Retrofitting. [PDF]
Sensors (Basel)Dar E, Tufan T, Akalp S, Yardımcı F.
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Solvatoalignment index and solvent-dependent behavior of asymmetric discotic liquid crystals: effect of polarity and alkyl chain length. [PDF]
Sci RepKian R +5 more
europepmc +1 more source
Spectral Moment Equivalence Theorem
This paper develops a general analytic framework governing zeta–regularized determinants of compact operators and establishes the precise algebraic moment identity that any Hilbert–Pólya operator must satisfy. We prove a Spectral Moment Equivalence Theorem showing that if a compact operator $H$ on a separable Hilbert space has a zeta–regularized ...
openaire +2 more sources
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
Effects of sustained Trendelenburg position on the spectral signatures of the EEG: implications for the consistency of the level of anesthesia, an observational study. [PDF]
J Clin Monit ComputRubio-Baines I +8 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source
A comprehensive design framework for all-dielectric metasurfaces by harnessing the interplay of controlled multiple multipole excitation, Rayleigh anomaly, Mie and lattice resonances. [PDF]
Nanoscale AdvBasha TK, Inam FA, Laskar JM.
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source