Št. zadetkov: 9
Video in druga učna gradiva
Oznake:
architecture;arts;graphic design;industrial design
Nove ekonomije, ekonomije zaupanja, alternativne ekonomije, solidarnostne ekonomije, ekonomije souporabe … Različnih poimenovanj novih ekonomij je skorajda toliko kot konceptov, ki vsebujejo atribute le-teh. To nakazuje živost in kompleksnost polja raznovrstnih novih ekonomskih in družbenih odnosov ...
Leto:
2014
Vir:
videolectures.net
Izvirni znanstveni članek
Oznake:
LHON;electroretinogram;oscillatory potentials;retina;photopic negative response;
Purpose: Leber hereditary optic neuropathy (LHON) affects retinal ganglion cells causing severe vision loss. Pattern electroretinogram and photopic negative response (PhNR) of the light-adapted (LA) full-field electroretinogram (ERG) are typically affected in LHON. In the present study, we evaluated ...
Leto:
2024
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Kratki znanstveni prispevek
Oznake:
mitochondrial optic neuropathy;OPA3;cystic fibrosis;
The striking similarity of disc edema without leakage on fluorescein angiography, which is pathognomonic of Leber hereditary optic neuropathy (LHON), was present in a patient with cystic fibrosis with antibiotic toxic optic neuropathy. This similarity suggested the common effect of oxidative stress ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
retinitis pigmentosa;RP;vitamin A;CSNB;NBWD;congenital stationary night blindness;rhodopsin;RHO;sector RP;treatment;
The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between th ...
Leto:
2023
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
LHON;retina;electroretinogram;photopic negative response;oscillatory potentials;
Purpose Leber hereditary optic neuropathy (LHON) affects retinal ganglion cells causing severe vision loss. Pattern electroretinogram and photopic negative response (PhNR) of the light-adapted (LA) full-field electroretinogram (ERG) are typically affected in LHON. In the present study, we evaluated ...
Leto:
2024
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
DRAM2;inherited retinal dystrophy;genetic spectrum;phenotype variability;genotype– phenotype correlation;fundus autofluorescence imaging;electrophysiology;
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described ...
Leto:
2022
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
USH2A-retinopathy;double hyperautofluorescent rings;electrophysiology;
USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a rare pat ...
Leto:
2019
Vir:
Medicinska fakulteta (UL MF)
Sanja Petrović Pajić,
Ana Fakin,
Martina Jarc-Vidmar,
Maja Šuštar,
Lucija Malinar,
Kasja Pavlovic,
Nina Krako Jakovljevic,
Marija Volk,
Aleš Maver,
Gregor Jezernik,
Damjan Glavač,
Borut Peterlin,
Marko Hawlina
Izvirni znanstveni članek
Oznake:
LHON;gene;electrophysiology;retinal segmentation;VA improvement;mitochondrial disfunction;proteomic analysis;
Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed an ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Maja Potrč,
Marija Volk,
Matteo de Rosa,
Jože Pižem,
Nataša Teran,
Helena Jaklič,
Aleš Maver,
Brigita Drnovšek-Olup,
Michela Bollati,
Katarina Vogelnik,
Alojzija Hočevar,
Ana Gornik,
Vladimir Pfeifer,
Borut Peterlin,
Marko Hawlina,
Ana Fakin
Izvirni znanstveni članek
Oznake:
gelsolin mayloidosis;Meretoja syndrome;GSN;cutis laxa;heart arrhythmia;lattice corneal dystrophy;optic neuropathy;optical coherence tomography;
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of ...
Leto:
2021
Vir:
Medicinska fakulteta (UL MF)