Results 131 to 140 of about 768,160 (341)
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin +12 more
wiley +1 more source
Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge +4 more
wiley +1 more source
Effect of Swimming Exercise Training and Advanced Antioxidant Supplementation on the TWEAK/TRAF2/ERK1/Ap-1 Signaling Pathway in Skeletal Muscle of Male Mice with Spinal Cord Injury [PDF]
Introduction: Spinal cord injury is a neurodegenerative condition that leads to reduced motor function and skeletal muscle atrophy. The aim of the present study was to investigate the effects of a period of endurance training and the administration of ...
Fatemeh Rastegari Nasab Ravari +3 more
doaj
MYOPATHY OF THE DISTAL TYPE AND ITS RELATION TO THE NEURAL FORM OF MUSCULAR ATROPHY (CHARCOT-MARIE, TOOTH TYPE) [PDF]
WILLIAM G. SPILLER
openalex +1 more source
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
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
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
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
Galvanism and Denervated Muscle Atrophy [PDF]
E. C. S. Jackson, H. J. Seddon
openalex +1 more source

