Results 181 to 190 of about 17,028,074 (314)
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, EarlyView.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
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.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
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam +6 more
wiley +1 more source
Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan +12 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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
Design and Implementation of Yunnan Province Soil Environmental Quality Database Based on ArcSDE for Oracle [PDF]
, 2019 Yi Zhao +5 more
openalex +1 more source