Search Results - "Reith, Milda"

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability by Reith, Milda, Zeltner, Lena, Schäferhoff, Karin, Witt, Dennis, Zuleger, Theresia, Haack, Tobias B, Bornemann, Antje, Alber, Michael, Ruf, Susanne, Schoels, Ludger, Stingl, Katarina, Weisschuh, Nicole

“…Variants in can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy. The mutation spectrum includes mainly missense and stop…”
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Defining reference values of arterioles in healthy individuals for studies with adaptive optics imaging by Kortuem, Friederike C, Merle, David A, Reith, Milda, Kuehlewein, Laura, Jung, Ronja, Holocher, Saskia, Stingl, Krunoslav, Stingl, Katarina, Kempf, Melanie

“…To investigate age-dependent wall to lumen ratio (WLR) reference values for healthy individuals in adaptive optics imaging (AO). WLR serves as an objective,…”
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Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype by Priglinger, Claudia S., Rudolph, Günter, Schmid, Irene, Mazzola, Pascale, Haack, Tobias B., Reith, Milda, Stingl, Katarina, Weisschuh, Nicole

“…Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not…”
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Therapy with voretigene neparvovec. How to measure success? by Stingl, Krunoslav, Kempf, Melanie, Jung, Ronja, Kortüm, Friederike, Righetti, Giulia, Reith, Milda, Dimopoulos, Spyridon, Ott, Saskia, Kohl, Susanne, Stingl, Katarina

“…Retinal gene supplementation therapy such as the first approved one, voretigene neparvovec, delivers a functioning copy of the missing gene enabling the…”
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Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa by Kelbsch, Carina, Kempf, Melanie, Jung, Ronja, Kortüm, Friederike, Reith, Milda, Kuehlewein, Laura, Kohl, Susanne, Strasser, Torsten, Peters, Tobias, Wilhelm, Helmut, Wilhelm, Barbara, Stingl, Krunoslav, Stingl, Katarina

“…Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod and cone function measured by chromatic…”
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A morphometric analysis of the retinal arterioles with adaptive optics imaging in RPE65‐associated retinal dystrophy after treatment with voretigene neparvovec by Kortuem, Friederike C., Kempf, Melanie, Merle, David A., Kuehlewein, Laura, Pohl, Lisa, Reith, Milda, Jung, Ronja, Ott, Saskia, Stingl, Krunoslav, Stingl, Katarina

“…Purpose To investigate the changes in retinal arterial architecture after treatment with voretigene neparvovec in patients with retinal dystrophy caused by…”
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Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia by Jung, Ronja, Kempf, Melanie, Pohl, Lisa, Kortüm, Friederike, Reith, Milda, Kelbsch, Carina, Kohl, Susanne, Wilhelm, Helmut, Wilhelm, Barbara, Stingl, Katarina, Stingl, Krunoslav

“…Recently, we proposed a method to assess cell-specific retinal functions based on the frequency-dependent responses to sinusoidal transcorneal…”
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases by Weisschuh, Nicole, Mazzola, Pascale, Zuleger, Theresia, Schaeferhoff, Karin, Kühlewein, Laura, Kortüm, Friederike, Witt, Dennis, Liebmann, Alexandra, Falb, Ruth, Pohl, Lisa, Reith, Milda, Stühn, Lara G, Bertrand, Miriam, Müller, Amelie, Casadei, Nicolas, Kelemen, Olga, Kelbsch, Carina, Kernstock, Christoph, Richter, Paul, Sadler, Francoise, Demidov, German, Schütz, Leon, Admard, Jakob, Sturm, Marc, Grasshoff, Ute, Tonagel, Felix, Heinrich, Tilman, Nasser, Fadi, Wissinger, Bernd, Ossowski, Stephan, Kohl, Susanne, Riess, Olaf, Stingl, Katarina, Haack, Tobias B

“…Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses…”
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Comparison of Full-Field Stimulus Threshold Measurements in Patients With Retinitis Pigmentosa and Healthy Subjects With Dilated and Nondilated Pupil by Reith, Milda, Stingl, Katarina, Kühlewein, Laura, Kempf, Melanie, Stingl, Krunoslav, Langrova, Hana

“…The common protocol of full-field stimulus threshold (FST) testing recommends pupil dilation. The aim of this study is to investigate the difference between…”
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An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa by Merle, David Adrian, Kohl, Susanne, Reith, Milda, Schäferhoff, Karin, Zuleger, Theresia, Stühn, Lara, Stingl, Krunoslav, Kempf, Melanie, Kühlewein, Laura, Grasshoff, Ute, Stingl, Katarina

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A case of AZOOR under immunomodulatory treatment by Merle, David A, Wolfram, Lasse, Nasyrov, Emil, Reith, Milda, Kowalski, Martin, Kempf, Melanie, Strudel, Lisa, Doycheva, Deshka, Deuter, Christoph, Stingl, Katarina, Kühlewein, Laura

“…To describe the clinical course and treatment response of a case of Acute Zonal Occult Outer Retinopathy (AZOOR). This is an observational case report. The…”
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