Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco+18 more
wiley +1 more source
Temporal changes in prevalence and geographical distribution of human papillomavirus infection in mainland China: a systematic review and analysis of 1.07 million females from 2010 to 2021. [PDF]
Chen Q, Wang S, Lin Q, Zhang G.
europepmc +1 more source
Global prevalence of dementia: a Delphi consensus study
C. Ferri+14 more
semanticscholar +1 more source
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann+6 more
wiley +1 more source
Prevalence of metabolic dysfunction-associated fatty liver disease among health check-up attendees: A retrospective study conducted in Vietnam. [PDF]
Lu NL, Lam HT, Vo TD.
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
Global burden and prediction study of schizophrenia 1990-2030: comparison with China. [PDF]
Yuan Z+5 more
europepmc +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong+7 more
wiley +1 more source
Evaluating trends in cigarette and HTP use in Japan and measurement issues in the National Health and Nutrition Survey. [PDF]
Levy DT+6 more
europepmc +1 more source
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando+13 more
wiley +1 more source