Essential tremor (ET) is the most common tremor disorder globally and is characterized by
kinetic tremor of the upper limbs, although other clinical features can also occur. Postmortem …

It is well established that peroxisomes play a crucial role in de novo bile acid synthesis.
Studies in patients with a peroxisomal disorder have been indispensable for the elucidation …

Cholesterol biosynthesis is a multi-step process involving more than 20 enzymes in several
subcellular compartments. The pre-squalene segment of the cholesterol/isoprenoid …

Many patients with SARS-CoV-2 infection develop neurological signs and symptoms;
although, to date, little evidence exists that primary infection of the brain is a significant …

Despite its being one of the most commonly observed neurological disorders,
neuropathological studies of essential tremor (ET) are rare. There have been surprisingly …

Subcellular localization is emerging as an important mechanism for mTORC1 regulation. We
report that the tuberous sclerosis complex (TSC) signalling node, TSC1, TSC2 and Rheb …

Background Clinical and functional imaging evidence suggests that cerebellar dysfunction
occurs in essential tremor (ET). In recent postmortem studies, we documented increased …

We document the neuropathologic findings of a 73-year old man who died from acute
cerebellar hemorrhage in the context of relatively mild SARS-CoV2 infection. The patient …

Background. A 33 year-old pancreatic transplant recipient developed weakness, retinal
blindness, and necrotic plaques on her face, scalp, and hands. Methods. A muscle biopsy …

An 1110-base-pair cDNA clone for human cathepsin D was obtained by screening a lambda
gt10 human hepatoma G2 cDNA library with a human renin exon 3 genomic fragment. Poly …