Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Ulrika Kjellström"'
Autor:
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 8, Pp n/a-n/a (2024)
Abstract Background Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 dise
Externí odkaz:
https://doaj.org/article/a5dd1973fd084228a9cd7051f8edf816
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background The purpose of the study was to compare the real-world aflibercept treatment and visual outcomes, and to examine the adherence to pandemic guidelines in two groups of patients with treatment-naïve neovascular age-related macular
Externí odkaz:
https://doaj.org/article/245bd9ead5a841fcb58a4c9bac541bcd
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 8, Iss , Pp 100189- (2023)
Family Report: Two rare autosomal recessive neurological disorders, leukoencephalopathy with ataxia and spastic paraplegia 56 (SPG56), were found in members of the same family. Two siblings presented with spastic paraplegia, cognitive impairment, bla
Externí odkaz:
https://doaj.org/article/c17ffb03722b42178819be3b8e114f1c
Autor:
Marion Schroeder, Virginie G. Peter, Lotta Gränse, Sten Andréasson, Carlo Rivolta, Ulrika Kjellström
Publikováno v:
Ophthalmic Genetics. 43:500-507
Publikováno v:
Ophthalmic Genetics. 42:161-169
Background: Stickler syndrome is a hereditary disorder of collagen tissues causing ocular, auditory, orofacial, and joint manifestations. Ocular findings typically include vitreous degeneration, high myopia, retinal detachment, and cataract. Many sub
Autor:
Ulrika, Kjellström, Sten, Andréasson
Publikováno v:
Molecular vision. 28
To investigate whether the reduced retinal function and morphological retinal changes previously demonstrated iniABCA4/icarriers had remained stationary or had deteriorated over time at 5-year follow-up to further explore if carriers of an autosomal
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 144(2)
PurposeTo compare two aflibercept treatment regimens and the electrophysiological outcome concerning cone and rod function in age-related macular degeneration (nAMD) over 18 months.Methods41 patients with treatment-naïve nAMD were randomized 1:1 to
Autor:
Andreas Puschmann, Sorina Gorcenco, Nanna Dahl Rendtorff, Frans P.M. Cremers, Sten Andréasson, Frédéric M. Vaz, Anna Maria Tracewska-Siemiatkowska, Lisbeth Tranebjærg, Claes Möller, Jenő Kicsi, Emil Ygland, Ulrika Kjellström
Publikováno v:
Parkinsonism & related disorders, 61, 245-247. Elsevier BV
Parkinsonism & Related Disorders, 61, 245-247
Parkinsonism & Related Disorders, 61, pp. 245-247
Parkinsonism & Related Disorders, 61, 245-247
Parkinsonism & Related Disorders, 61, pp. 245-247
Contains fulltext : 206709.pdf (Publisher’s version ) (Closed access)
Autor:
Alexandre Moulin, Styliani V. Blazaki, Ikram El Zaoui, Yvan Arsenijevic, Basilio Giangreco, Konstantinos Nikopoulos, Sotiris Plainis, Katarina Cisarova, Ulrika Kjellström, Pietro Farinelli, Shazia Micheal, Frans P.M. Cremers, Silvio Alessandro Di Gioia, Sara Balzano, Andrea Messina, Martial Mbefo, Marius Ueffing, Sarah Decembrini, Muhammad Imran Khan, Sten Andréasson, Carlo Rivolta, Chrysanthi Tsika, Beryl Royer-Bertrand, Nicola Bedoni, Miltiadis K. Tsilimbaris, Karsten Boldt, Ronald Roepman
Publikováno v:
American Journal of Human Genetics, 99, 770-6
American journal of human genetics, vol. 99, no. 3, pp. 770-776
American Journal of Human Genetics, 99, 3, pp. 770-6
American journal of human genetics, vol. 99, no. 3, pp. 770-776
American Journal of Human Genetics, 99, 3, pp. 770-6
Item does not contain fulltext Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other r