We developed stable isotope labeling and mass spectrometry approaches to measure the
kinetics of multiple isoforms and fragments of tau in the human central nervous system (CNS) …

There is no effective treatment for amyotrophic lateral sclerosis (ALS), a devastating motor
neuron disease. However, discovery of a G 4 C 2 repeat expansion in the C9ORF72 gene as …

Importance Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which
microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in …

Answer ALS is a biological and clinical resource of patient-derived, induced pluripotent
stem (iPS) cell lines, multi-omic data derived from iPS neurons and longitudinal clinical and …

Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some
of which are associated with a distinct phenotype. Most studies assess limited variants or …

Importance Understanding the natural history of familial amyotrophic lateral sclerosis (ALS)
caused by SOD1 mutations (ALS SOD1 ) will provide key information for optimising clinical …

Sporadic inclusion body myositis (sIBM) has clinical, pathologic and pathomechanistic overlap
with some inherited muscle and neurodegenerative disorders. In this study, DNA from 79 …

Objective To define the natural history of the C9orf72 amyotrophic lateral sclerosis (C9ALS)
patient population, develop disease biomarkers, and characterize patient pathologies. …

Therapeutic strategies that target disease-associated transcripts are being developed for a
variety of neurodegenerative syndromes. Protein levels change as a function of their half-life, …

Objective Accumulation of misfolded superoxide dismutase‐1 (SOD1) is a pathological
hallmark of SOD1‐related amyotrophic lateral sclerosis (ALS) and is observed in sporadic ALS …