Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.
Sign Up to like & getrecommendations! Published in 2018 at "Actas dermo-sifiliograficas"
DOI: 10.1016/j.ad.2018.05.005
Abstract: Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in… read more here.
Keywords: part; related syndromes; epidermal nevi; nevi related ... See more keywords
Proton magnetic resonance spectroscopy in frontotemporal lobar degeneration-related syndromes
Sign Up to like & getrecommendations! Published in 2022 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2021.10.012
Abstract: Highlights • We report MR-spectroscopy in syndromes linked to frontotemporal lobar degeneration (FTLD).• NAA and glutamate concentrations in the frontal lobe are reduced by FTLD.• NAA and glutamate levels correlate with behavior in FTLD-related syndromes. read more here.
Keywords: lobar degeneration; frontotemporal lobar; spectroscopy; related syndromes ... See more keywords
Cardiac phenotype in ATP1A3-related syndromes
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000010794
Abstract: Objective To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. Methods Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic… read more here.
Keywords: atp1a3 related; cardiac phenotype; phenotype atp1a3; related syndromes ... See more keywords
WIPI proteins: Biological functions and related syndromes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.1011918
Abstract: WIPI (WD-repeat protein Interacting with PhosphoInositides) are important effectors in autophagy. These proteins bind phosphoinositides and recruit autophagy proteins. In mammals, there are four WIPI proteins: WIPI1, WIPI2, WIPI3 (WDR45B), and WIPI4 (WDR45). These proteins… read more here.
Keywords: wipi proteins; biological functions; wipi; related syndromes ... See more keywords