Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia

por Petrovic Pajic, Sanja, Fakin, Ana, Sustar Habjan, Maja, Jarc-Vidmar, Martina, Hawlina, Marko
Publicado 2023

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene

por Sajovic, Jana, Meglič, Andrej, Volk, Marija, Maver, Aleš, Jarc-Vidmar, Martina, Hawlina, Marko, Fakin, Ana
Publicado 2023

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study

por Sajovic, Jana, Meglič, Andrej, Fakin, Ana, Brecelj, Jelka, Šuštar Habjan, Maja, Hawlina, Marko, Jarc Vidmar, Martina
Publicado 2023

Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation

por Zupan, Andrej, Fakin, Ana, Battelino, Saba, Jarc-Vidmar, Martina, Hawlina, Marko, Bonnet, Crystel, Petit, Christine, Glavač, Damjan
Publicado 2019

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

por Hadalin, Vlasta, Buscarino, Maša, Sajovic, Jana, Meglič, Andrej, Jarc-Vidmar, Martina, Hawlina, Marko, Volk, Marija, Fakin, Ana
Publicado 2023

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

por Tekavčič Pompe, Manca, Vrabič, Nika, Volk, Marija, Meglič, Andrej, Jarc-Vidmar, Martina, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Publicado 2021

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15

por Hadalin, Vlasta, Šuštar, Maja, Volk, Marija, Maver, Aleš, Sajovic, Jana, Jarc-Vidmar, Martina, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Publicado 2021

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

por Sajovic, Jana, Meglič, Andrej, Corradi, Zelia, Khan, Mubeen, Maver, Aleš, Vidmar, Martina Jarc, Hawlina, Marko, Cremers, Frans P. M., Fakin, Ana
Publicado 2023

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

por Fakin, Ana, Šuštar, Maja, Brecelj, Jelka, Bonnet, Crystel, Petit, Christine, Zupan, Andrej, Glavač, Damjan, Jarc-Vidmar, Martina, Battelino, Saba, Hawlina, Marko
Publicado 2019

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series

por Petrovic Pajic, Sanja, Jarc-Vidmar, Martina, Fakin, Ana, Sustar Habjan, Maja, Brecelj, Jelka, Volk, Marija, Maver, Ales, Peterlin, Borut, Hawlina, Marko
Publicado 2022

The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy

por Petrovic Pajic, Sanja, Lapajne, Luka, Vratanar, Bor, Fakin, Ana, Jarc-Vidmar, Martina, Sustar Habjan, Maja, Volk, Marija, Maver, Ales, Peterlin, Borut, Hawlina, Marko
Publicado 2022

Trichoplein binds PCM1 and controls endothelial cell function by regulating autophagy

por Martello, Andrea, Lauriola, Angela, Mellis, David, Parish, Elisa, Dawson, John C, Imrie, Lisa, Vidmar, Martina, Gammoh, Noor, Mitić, Tijana, Brittan, Mairi, Mills, Nicholas L, Carragher, Neil O, D'Arca, Domenico, Caporali, Andrea
Publicado 2020

miR-96 and miR-183 differentially regulate neonatal and adult postinfarct neovascularization

por Castellan, Raphael F.P., Vitiello, Milena, Vidmar, Martina, Johnstone, Steven, Iacobazzi, Dominga, Mellis, David, Cathcart, Benjamin, Thomson, Adrian, Ruhrberg, Christiana, Caputo, Massimo, Newby, David E., Gray, Gillian A., Baker, Andrew H., Caporali, Andrea, Meloni, Marco
Publicado 2020

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

por Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Publicado 2016