Research progress on biomarkers of traumatic brain injury
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen +8 more
wiley +1 more source
Rehabilitation in spinal muscular atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead +3 more
doaj +1 more source
Mutant UBQLN2P497H in motor neurons leads to ALS-like phenotypes and defective autophagy in rats [PDF]
Mutations in ubiquilin2 (UBQLN2) have been linked to abnormal protein aggregation in amyotrophic lateral sclerosis (ALS). The mechanisms underlying UBQLN2-related neurodegenerative diseases remain unclear.
Chen, Tianhong +4 more
core +2 more sources
A novel mouse model simulating C5 palsy after cervical surgery
This study establishes a reliable mouse model of permanent C5 palsy (post‐laminectomy complication) via dorsal approach, selectively severing the C5 anterior nerve root while preserving the posterior root through partial C4 and C5 laminectomy. The model successfully replicates clinical C5P features—flaccid shoulder paralysis, electrophysiological ...
Chenpei Xu +8 more
wiley +1 more source
Spinal muscular atrophy (Werdnig‑Hoffmann atrophy disease) [PDF]
Introduction. Spinal muscular atrophy type 1 is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and atrophy.
Mariana A. RYZNYCHUK +4 more
doaj
Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim +6 more
wiley +1 more source
Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA. [PDF]
Macroautophagy (hereafter autophagy) is a key pathway in neurodegeneration. Despite protective actions, autophagy may contribute to neuron demise when dysregulated.
Batlevi, Yakup +11 more
core
From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]
Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman +53 more
core +1 more source
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source
Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. [PDF]
Spinal muscular atrophy (SMA) is an early-onset motor neuron disease that leads to loss of muscle function. Butyrate (BA)-based compounds markedly improve the survival and motor phenotype of SMA mice.
Butchbach, Matthew E.R. +1 more
core +2 more sources

