Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Melanie Kempf"'
Autor:
Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid subst
Externí odkaz:
https://doaj.org/article/8ed648043ce34aba9586e83dd5fbdd7c
Autor:
Melanie Kempf, Susanne Kohl, Krunoslav Stingl, Fadi Nasser, Katarina Stingl, Friederike C. Kortuem
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
PurposeTo determine the structure of the cone photoreceptor mosaic in the macula in eyes with retinitis pigmentosa related to Usher syndrome using adaptive optics fundus (AO) imaging and to correlate these findings with those of the standard clinical
Externí odkaz:
https://doaj.org/article/ed87fabc7a694683b8ebdefc27e9eb64
Autor:
Friederike C. Kortuem, David A. Merle, Milda Reith, Laura Kuehlewein, Ronja Jung, Saskia Holocher, Krunoslav Stingl, Katarina Stingl, Melanie Kempf
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
PurposeTo investigate age-dependent wall to lumen ratio (WLR) reference values for healthy individuals in adaptive optics imaging (AO). WLR serves as an objective, dimensionless parameter for the evaluation of structural changes in vessels caused by
Externí odkaz:
https://doaj.org/article/c7bbd03fdba145fe9f40905ecd1e8595
Autor:
Torsten Straßer, Susanne Kramer, Melanie Kempf, Tobias Peters, Anne Kurtenbach, Eberhart Zrenner
Publikováno v:
Sensors, Vol 19, Iss 22, p 4890 (2019)
The aim of this study was to investigate the use of inexpensive and easy-to-use hydrogel “marble” electrodes for the recording of electrical potentials of the human visual cortex using visual evoked potentials (VEPs) as example. Top hat-shaped ho
Externí odkaz:
https://doaj.org/article/503a10ff4a3c4c1db311a33dd7199cc6
Autor:
Katarina Stingl, Krunoslav Stingl, Hillary Schwartz, Mark W. Reid, Melanie Kempf, Spyridon Dimopoulos, Friederike Kortuem, Mark S. Borchert, Thomas C. Lee, Aaron Nagiel
Publikováno v:
Ophthalmology.
Autor:
Zrenner, Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B. Haack, Nicole Weisschuh, Katarina Stingl, Eberhart
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1218
The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthal
Autor:
Fabian Wozar, Krunoslav Stingl, Ronja Jung, Friederike Kortüm, Bernd Wissinger, Eberhart Zrenner, Felix F L Reichel, Tobias Peters, Fadi Nasser, Carina Kelbsch, Karl U. Bartz-Schmidt, Katarina Stingl, Barbara Wilhelm, Spyridon Dimopoulos, Susanne Kohl, M. Dominik Fischer, Melanie Kempf
Publikováno v:
British Journal of Ophthalmology. 106:831-838
BackgroundVoretigene neparvovec is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. In this study, we report on a novel and objective evaluation of a retinotopic photoreceptor rescue.MethodsSeven eye
Autor:
Friederike C. Kortuem, Melanie Kempf, Laura Kuehlewein, Fadi Nasser, Constanze Kortuem, Michel Paques, Susanne Kohl, Marius Ueffing, Bernd Wissinger, Eberhart Zrenner, Katarina Stingl
Publikováno v:
Acta Ophthalmologica. 100
Autor:
Krunoslav, Stingl, Carel, Hoyng, Melanie, Kempf, Susanne, Kohl, Ronja, Jung, Giulia, Righetti, Laura, Kühlewein, Lisa, Pohl, Friederike, Kortüm, Carina, Kelbsch, Barbara, Wilhelm, Tobias, Peters, Katarina, Stingl
Publikováno v:
Investigative ophthalmologyvisual science. 63(3)
In this study, chromatic pupil campimetry (CPC) was used to map local functional degenerative changes of cones and rods in Stargardt disease (STGD1).19 patients (age 36 ± 8 years; 12 males) with genetically confirmed ABCA4 mutations and a clinical d
Autor:
Philipp Rating, Bernhard H. F. Weber, Fadi Nasser, Eberhart Zrenner, Christine Neuhaus, Melanie Kempf, Anne Kurtenbach, Heidi Stöhr
Publikováno v:
Ophthalmic Research. 63:141-151
Objective: We report on two German siblings diagnosed with congenital hypotrichosis and juvenile macular dystrophy, an extremely rare syndrome affecting both hair growth and visual functions. Methods: A detailed ophthalmological examination was carri