The Diverse Neuromuscular Spectrum of VPS13A Disease
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Localization of the therapeutic targets for endothelin receptor antagonists and sodium-glucose co-transporter 2 inhibitors in the chronic liver disease, primary sclerosing cholangitis. [PDF]
Kuc RE +7 more
europepmc +1 more source
On Laticiferous Tissue in the pith of Manihot Glaziovii, and on the presence of Nuclei in this Tissue [PDF]
AGNES CALVERT, L. A. BOODLE
openalex +1 more source
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini +7 more
wiley +1 more source
Resveratrol protects male <i>Drosophila melanogaster</i> from heat stress-induced paralysis through a mechanism independent of heat shock response activation. [PDF]
Webb N +6 more
europepmc +1 more source
On the Interaction of Dead Leukocytic Nuclei, L.E. Factor and Living Leukocytes in the L. E. Cell Phenomenon [PDF]
Daniel J. Nathan, I. Snapper
openalex +1 more source
Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge +4 more
wiley +1 more source
Hybrid BAG-seq: DNA and RNA from the same single nucleus reveals interactions between genomic and transcriptomic landscapes in human tumor samples. [PDF]
Li S +21 more
europepmc +1 more source
XXXVIII. On the condensation nuclei produced in air and hydrogen by heating a platinum wire [PDF]
Gwilym Owen
openalex +1 more source

