Human-scATAC-Corpus: a comprehensive database of scATAC-seq data. [PDF]
Chen X +7 more
europepmc +1 more source
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey +2 more
wiley +1 more source
Making sense of expanding transcriptomic data: network-based approaches for studying reproduction in domestic and wild animal species. [PDF]
Amelkina O, Comizzoli P.
europepmc +1 more source
Network Localization of Fatigue in Multiple Sclerosis
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo +12 more
wiley +1 more source
Prediction of Chronic Obstructive Pulmonary Disease Using Machine Learning, Clinical Summary Notes, and Vital Signs: A Single-Center Retrospective Cohort Study in the United States. [PDF]
Meng S, Sagreiya H, Orangi-Fard N.
europepmc +1 more source
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu +5 more
wiley +1 more source
Association of Stress Hyperglycemia Ratio with Sepsis and Mortality in Critically Ill Stroke Patients: A Retrospective Cohort Study from MIMIC-IV. [PDF]
Yuan S +6 more
europepmc +1 more source
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Optimizing expanded carrier screening for China: Multi-center study establishes 202-gene panel with optimal cost-effectiveness in preconception and prenatal care. [PDF]
Yang Y +5 more
europepmc +1 more source

