NEURODEGENERACIÓN SENSORIAL

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa..

Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Oldak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Eddera J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stingl K, Suga A, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, van Aerschot J, van den Born LI, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Cremers FPM, Lee W, Ellingford JM, Stanek D, Rivolta C, Roosing S.

medRxiv : the preprint server for health sciences, 0-0 (2025)

DOI: 10.1101/2025.01.06.24317169

Characterization of the Most Resistant and Vulnerable Retinal Ganglion Cell Subtypes in a Chronic Model of Glaucoma in Rat..

Ruzafa, Noelia, Pereiro, Xandra, Prieto-Lopez, Laura, Urcola, Aritz, Acera, Arantxa, Vecino, Elena.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 66, 5-5 (2025)

DOI: 10.1167/iovs.66.13.5

Comparison between a new transepithelial PRK vs. conventional alcohol-assisted PRK: Corneal densitometry and aberrometry study..

Aramberri J, Lauzirika G, Illarramendi I, Mendicute J.

EUROPEAN JOURNAL OF OPHTHALMOLOGY, 35, 474-481 (2025)

DOI: 10.1177/11206721241267360

Bacteria-Fungi Interactions in Multiple Sclerosis..

Gorostidi-Aicua M, Reparaz I, Otaegui-Chivite A, García K, Romarate L, Álvarez de Arcaya A, Mendiburu I, Arruti M, Castillo-Triviño T, Moles L, Otaegui D.

Microorganisms, 12, 0-0 (2024)

DOI: 10.3390/microorganisms12050872

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients..

Zeuli R, Karali M, de Bruijn SE, Rodenburg K, Scarpato M, Capasso D, Astuti GDN, Gilissen C, Rodríguez-Hidalgo M, Ruiz-Ederra J, Testa F, Simonelli F, Cremers FPM, Banfi S, Roosing S.

HUMAN GENETICS AND GENOMICS ADVANCES, 5, 100314-100314 (2024)

DOI: 10.1016/j.xhgg.2024.100314

A 6-Month Follow-Up Comparative Study of Single-Step Transepithelial Photorefractive Keratectomy (Trans-PRK) Using the StreamLight Software with and without Epithelial Thickness Customization..

Aramberri J, Lauzirika G, Illarramendi I, Mendicute J.

Clinical Ophthalmology, 18, 2831-2841 (2024)

DOI: 10.2147/OPTH.S487627

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan..

Basharat R, de Bruijn SE, Zahid M, Rodenburg K, Hitti-Malin RJ, Rodríguez-Hidalgo M, Boonen EGM, Jarral A, Mahmood A, Corominas J, Khalil S, Zai JA, Ali G, Ruiz-Ederra J, Gilissen C, Cremers FPM, Ansar M, Panneman DM, Roosing S.

EXPERIMENTAL EYE RESEARCH, 244, 109945-109945 (2024)

DOI: 10.1016/j.exer.2024.109945

Characteristics of pseudophakic retinal detachment and risk factors of recurrence..

Gibelalde A, Pinar-Sueiro S, Ibarrondo O, Ruiz Miguel M, Martínez Soroa I, Mendicute J.

Archivos De La Sociedad Espanola De Oftalmologia, 99, 365-372 (2024)

DOI: 10.1016/j.oftale.2024.05.009

Visual and patient reported outcomes provided by a refractive multifocal intraocular lens based on continuous transitional focus..

Alió JL, Martínez-Abad A, Ruiz-Mesa R, Kim HM, Mendicute J, Ribeiro FJ, Holzer MP, Cantó-Cerdán M.

Eye and Vision, 11, 41-41 (2024)

DOI: 10.1186/s40662-024-00408-y

Visual, Refractive, Functional, and Patient Satisfaction Outcomes After Implantation of a New Trifocal Diffractive Intraocular Lens.

Mendicute, J, Lauzirika, G, Illarramendi, I, Martínez-Soroa, I.

Clinical Ophthalmology, 18, 2785-2795 (2024)

DOI: 10.2147/OPTH.S480311