Mutations in valosin-containing protein (VCP) cause inclusion body myopathy (IBM) associated
with Paget’s disease of the bone (PDB) and fronto-temporal dementia (FTD) or IBMPFD. …

… Pestronk, Alan a,b,c … Nozaki K, Pestronk A. High aldolase with normal creatine kinase
in serum predicts a myopathy with perimysial pathology. J Neurol Neurosurg Psychiatry …

Algorithms designed to identify canonical yeast prions predict that around 250 human
proteins, including several RNA-binding proteins associated with neurodegenerative disease, …

Objective: To characterize the clinical features and muscle pathology of paraneoplastic
necrotizing myopathy. Background: Paraneoplastic syndromes involving many levels of the …

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
(IBMPFD) is a dominant progressive disorder that maps to chromosome 9p21.1–p12. We …

To identify novel causes of familial neurodegenerative diseases, we extended our previous
studies of TAR DNA‐binding protein 43 (TDP‐43) proteinopathies to investigate TDP‐43 as …

Recently, the excitatory amino acid neurotransmitter glutamate was implicated in the
pathogenesis of a variety of chronic degenerative neurological diseases in humans and animals. …

MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome …

Background Tofersen is an antisense oligonucleotide that mediates the degradation of
superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis. Intrathecal …

To study the role of humoral factors in the pathogenesis of myasthenia gravis, we employed
passive transfer of human serum fractions to mice. Immunoglobulins from 16 patients with …