Research Background In the field of neuroscience, amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two highly heterogeneous neurodegenerative diseases. Studies indicate that non-coding hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic causes of these diseases. However, the specific ...

Detection of Seeding Activity of Human Superoxide Dismutase 1 Aggregates in Postmortem Neural Tissues of Familial and Sporadic Amyotrophic Lateral Sclerosis Patients Background Introduction Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressing neurodegenerative disease with an average survival time of 2 to 5 years after diagnosis. Major symp...

Research Background Myasthenia Gravis (MG) is a chronic antibody-mediated autoimmune disease that primarily affects synaptic transmission at the neuromuscular junction. Approximately 85% of MG patients are antibody-mediated targeting acetylcholine receptors (AChR). The clinical features of this disease include muscle weakness, especially fatigue-in...

Scientific Report: Analysis of NEB Pathogenic Variants Reveals Novel Mechanisms of Nemaline Myopathy and the Mechanical Effects of Omecamtiv Mecarbil Background and Motivation Nemaline Myopathy (NEM) is a rare and heterogeneous genetic disorder primarily characterized by hypotonia and muscle weakness. Pathologically, the disease is caused by the di...

Research Report: Effect of Bruton Tyrosine Kinase Inhibitor Evobrutinib on Myelin Repair and CNS Inflammation in Multiple Sclerosis Background Introduction Multiple Sclerosis (MS) is a demyelinating disease of the Central Nervous System (CNS) where the myelin sheath of patients is damaged by inflammation. Traditionally, MS is considered to be prima...