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Page 1
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M. Bonifert T, et al. Among authors: tonagel f. Brain. 2014 Aug;137(Pt 8):2164-77. doi: 10.1093/brain/awu165. Epub 2014 Jun 25. Brain. 2014. PMID: 24970096 Free PMC article.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G. Charif M, et al. Among authors: tonagel f. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B. Weisschuh N, et al. Among authors: tonagel f. PLoS One. 2021 Jul 9;16(7):e0253987. doi: 10.1371/journal.pone.0253987. eCollection 2021. PLoS One. 2021. PMID: 34242285 Free PMC article.
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Kieninger S, Xiao T, Weisschuh N, Kohl S, Rüther K, Kroisel PM, Brockmann T, Knappe S, Kellner U, Lagrèze W, Mazzola P, Haack TB, Wissinger B, Tonagel F. Kieninger S, et al. Among authors: tonagel f. J Med Genet. 2022 Oct;59(10):1027-1034. doi: 10.1136/jmedgenet-2021-108235. Epub 2022 Jan 28. J Med Genet. 2022. PMID: 35091433 Free PMC article.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: tonagel f. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy.
Seeliger MW, Beck SC, Pereyra-Muñoz N, Dangel S, Tsai JY, Luhmann UF, van de Pavert SA, Wijnholds J, Samardzija M, Wenzel A, Zrenner E, Narfström K, Fahl E, Tanimoto N, Acar N, Tonagel F. Seeliger MW, et al. Among authors: tonagel f. Vision Res. 2005 Dec;45(28):3512-9. doi: 10.1016/j.visres.2005.08.014. Epub 2005 Sep 26. Vision Res. 2005. PMID: 16188288 Free article.
42 results