Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.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
Treatment preferences in Waldenström macroglobulinemia: an international discrete choice experiment in 1455 patients. [PDF]
Blood NeoplasiaBecking AL +19 more
europepmc +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Neural Probabilistic Circuits: Enabling Compositional and Interpretable Predictions Through Logical Reasoning. [PDF]
Mach LearnChen W, Yu S, Shao H, Sha L, Zhao H.
europepmc +1 more source
Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky +5 more
wiley +1 more source
Letter to the Editor Regarding "Development and Internal Evaluation of a Nomogram for Clinically Significant Depressive Symptoms in Obstructive Sleep Apnea-Hypopnea Syndrome" [Letter]. [PDF]
Nat Sci SleepJin R.
europepmc +1 more source
Predictive Value of Composite Inflammatory Markers for Stroke Prognosis: A Prospective Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Novel composite inflammatory markers' role in stroke prognosis is understudied, and the best predictor is unclear, requiring further exploration. Objectives This study aimed to systematically evaluate the associations of 6 novel composite inflammatory markers on stroke prognosis.
Bing Wu +7 more
wiley +1 more source
Linguistic q-rung orthopair fuzzy group decision-making approach based on new bidirectional projection and generalized knowledge measure. [PDF]
Sci RepQin Y, Liu Y, Rong Y.
europepmc +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.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
Enhanced multi-attribute decision-making method to analyze renewable energy sources for sustainable transportation by synergizing the cubic set with picture fuzzy hypersoft sets. [PDF]
Sci RepSajid M, Khan KA, Rahman AU, Mabela RM.
europepmc +1 more source