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Št. zadetkov: 5
Natural disease course in Usher syndrome patients harboring USH2A variant p.cys870* in exon 13, amenable to exon skipping therapy
Katja Čadonič, Jana Sajovic, Marko Hawlina, Ana Fakin, Ana Fakin
Izvirni znanstveni članek
Oznake: Usherjev sindrom;USH2A;pigmentni retinitis;avtofluorescenčni fundus;preskok terapije exon;Usher syndrome;retinitis pigmentosa;fundus autofluorescence;exon skipping therapy;
The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in USH2A exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozygous). Seven patients had follow-up data (median of ...
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
ǂThe ǂrole of vitamin A in retinal diseases
Jana Sajovic, Andrej Meglič, Damjan Glavač, Špela Markelj, Marko Hawlina, Ana Fakin, Ana Fakin
Pregledni znanstveni članek
Oznake: vitamin A;retinal diseases;ABCA4;
Vitamin A is an essential fat-soluble vitamin that occurs in various chemical forms. It is essential for several physiological processes. Either hyper- or hypovitaminosis can be harmful. One of the most important vitamin A functions is its involvement in visual phototransduction, where it serves as ...
Leto: 2022 Vir: Medicinska fakulteta (UL MF)
Natural history of Stargardt disease
Jana Sajovic, Andrej Meglič, Ana Fakin, Jelka Brecelj, Maja Šuštar, Marko Hawlina, Martina Jarc-Vidmar
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
Stargardt-like clinical characteristics and disease course associated with variants in the WDR19 gene
Jana Sajovic, Andrej Meglič, Marija Volk, Aleš Maver, Martina Jarc-Vidmar, Marko Hawlina, Ana Fakin
Izvirni znanstveni članek
Oznake: WDR19;IFT144;Stargardt disease;Stargardt-like disease;fundus flavimaculaus;ABCA4;phenocopy;
Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was to compare longitudinal multimodal imaging of a WDR19-Stargardt patient, harboring p.(Ser485Ile) and a novel c.(3183+1_3184-1)_(3261+1_3262-1)del variant, with 43 ABCA4-Starg ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
Vpliv glasbe na odzivnost oseb z demenco s pomočjo pupilometrije
Jana Dolenc, Gorazd Drevenšek, Vida Groznik, Jakob Sajovic
Magistrsko delo
Oznake: Covid-19;Alzheimerjeva bolezen;demenca;pupilometrija;odziv zenic;glasba;
Leto: 2023 Vir: Fakulteta za matematiko, naravoslovje in informacijske tehnologije Koper (UP FAMNIT)
Št. zadetkov: 5
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