ALS 文献中心

Landmark paper identifying SOD1 mutations as the first genetic cause of familial ALS.

Independent discovery of C9orf72 repeat expansion as the most common genetic cause of ALS.

Discovery of C9orf72 repeat expansion as a major cause of familial ALS and frontotemporal dementia.

Discovery of FUS mutations as a cause of familial ALS, implicating RNA processing in disease pathogenesis.

Discovery of TDP-43 gene mutations in familial ALS.

Comprehensive review of ALS covering clinical features, pathophysiology, genetics, and management strategies.

Comprehensive primer on ALS covering epidemiology, mechanisms, diagnosis, and management.

Phase 2/3 trial of masitinib, a tyrosine kinase inhibitor, showing potential benefit in ALS patients.

Review of the clinical and pathological overlap between ALS and frontotemporal dementia.

Study on effects of non-invasive ventilation on survival and quality of life in ALS.

Clinical review of ALS covering diagnosis, prognosis, and management approaches.

Systematic review of global ALS epidemiology.

This review examines the role of oxidative stress and mitochondrial dysfunction in ALS pathogenesis.

Review of neuroinflammation mechanisms and glial cell involvement in ALS pathogenesis.

Large-scale genome-wide association study identifying ALS risk loci.

Study of dipeptide repeat protein toxicity in C9orf72-related ALS.

Discovery of C9orf72 repeat expansions as the most common genetic cause of ALS and frontotemporal dementia.

A comprehensive review of neuroinflammation and glial cell involvement in ALS progression.

Study demonstrating benefits of multidisciplinary care on survival in ALS.

Review of stem cell-based therapeutic approaches for ALS, including mesenchymal and neural stem cells.

A systematic review of riluzole, the first FDA-approved drug for ALS, showing modest survival benefit.

Review of excitotoxicity mechanisms in ALS, focusing on glutamate-mediated neuronal death.

Neurofilament light chain (NfL) has emerged as a promising biomarker for ALS. This article reviews the evidence supporting NfL as a diagnostic and prognostic marker.

Introduction of the revised ALS Functional Rating Scale, the gold standard for measuring disease progression.

Long-term results of tofersen, an antisense oligonucleotide targeting SOD1, showing clinical benefit in SOD1-ALS patients.

This study demonstrates the safety and pharmacodynamics of antisense oligonucleotide therapy targeting SOD1 in ALS patients.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive loss of motor neurons. This review provides a comprehensive overview of ALS pathogenesis, genetics, and therapeutic approaches.

TDP-43 is a DNA/RNA-binding protein that forms pathological aggregates in ALS and frontotemporal dementia. This review discusses the mechanisms of TDP-43 toxicity.

Mutations in superoxide dismutase 1 (SOD1) were the first genetic cause identified in familial ALS. This landmark paper describes the discovery and its implications.

This randomized trial evaluated the efficacy of sodium phenylbutyrate-taurursodiol (Relyvrio) in slowing functional decline in ALS patients.