INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
Correction of complex three-dimensional deformities at the proximal femur using indirect reduction with angle blade plate and patient-specific instruments: a technical note [PDF]
Lukas Jud +2 more
openalex +1 more source
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich +10 more
wiley +1 more source
Dimensional reduction based on peak fitting of Raman micro spectroscopy data improves detection of prostate cancer in tissue specimens. [PDF]
Plante A +28 more
europepmc +1 more source
Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato +5 more
wiley +1 more source
Dimension reduction for longitudinal multivariate data by optimizing class separation of projected latent Markov models [PDF]
Alessio Farcomeni +2 more
openalex +1 more source
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu +9 more
wiley +1 more source
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
Optimizing IoMT Security: Performance Trade-Offs Between Neural Network Architectural Design, Dimensionality Reduction, and Class Imbalance Handling [PDF]
Heyfa Ammar, Asma Cherif
openalex +1 more source

