Št. zadetkov: 10
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
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:
Repozitorij Univerze v Ljubljani (RUL)
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:
Repozitorij Univerze v Ljubljani (RUL)
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:
long-term follow-up;STGD1;ERG groups;fishman stages;DDAF area;genotype-phenotype correlations;
Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
Marija Volk,
Aleš Maver,
Lucija Malinar,
Sanja Petrović Pajić,
Urška Dragin Jerman,
Rok Romih,
Marko Hawlina,
Borut Peterlin,
Martina Jarc-Vidmar,
Nuša Trošt,
Tanja Višnjar,
Ana Fakin,
Lea Kovač,
Maja Šuštar Habjan
Izvirni znanstveni članek
Oznake:
PHB1;candidate genes;dominant optic atrophy;mitochondrial dysfunction;
Hereditary optic neuropathies comprise a genetically heterogeneous group of disorders caused by pathogenic variants in mitochondrial and nuclear genes. Despite increasing diagnostic yields, many patients remain without a molecular diagnosis. We report a novel candidate heterozygous variant in the PH ...
Leto:
2026
Vir:
Repozitorij Univerze v Ljubljani (RUL)