CNGA3 mutations in two United Arab Emirates families with achromatopsia

por Ahuja, Yachna, Kohl, Susanne, Traboulsi, Elias I.
Publicado 2008

Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family

por Pach, Johanna, Kohl, Susanne, Gekeler, Florian, Zobor, Ditta
Publicado 2013

Sleep and circadian phenotype in people without cone-mediated vision: a case series of five CNGB3 and two CNGA3 patients

por Spitschan, Manuel, Garbazza, Corrado, Kohl, Susanne, Cajochen, Christian
Publicado 2021

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

por Reuter, Peggy, Walter, Magdalena, Kohl, Susanne, Weisschuh, Nicole
Publicado 2023

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

por Buena-Atienza, Elena, Nasser, Fadi, Kohl, Susanne, Wissinger, Bernd
Publicado 2018

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

por Zobor, Ditta, Brühwiler, Britta, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Publicado 2023

An early onset cone dystrophy due to CEP290 mutation: a case report

por Binder, Anastasia, Kohl, Susanne, Grasshoff, Ute, Schäferhoff, Karin, Stingl, Katarina
Publicado 2023

Rod and Cone Function in Patients with KCNV2 Retinopathy

por Zobor, Ditta, Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart, Jägle, Herbert
Publicado 2012

Genetic and Clinical Characterization of Danish Achromatopsia Patients

por Andersen, Mette Kjøbæk Gundestrup, Bertelsen, Mette, Grønskov, Karen, Kohl, Susanne, Kessel, Line
Publicado 2023

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations

por Samanta, Ananya, Stingl, Katarina, Kohl, Susanne, Ries, Jessica, Linnert, Joshua, Nagel-Wolfrum, Kerstin
Publicado 2019

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

por Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Publicado 2021

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

por De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne
Publicado 2022

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

por Matet, Alexandre, Kohl, Susanne, Baumann, Britta, Antonio, Aline, Mohand-Said, Saddek, Sahel, José-Alain, Audo, Isabelle
Publicado 2018

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence

por Sumaroka, Alexander, Cideciyan, Artur V., Sheplock, Rebecca, Wu, Vivian, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G.
Publicado 2020

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

por Kortüm, Friederike, Kieninger, Sinja, Mazzola, Pascale, Kohl, Susanne, Wissinger, Bernd, Prokisch, Holger, Stingl, Katarina, Weisschuh, Nicole
Publicado 2021

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

por Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Publicado 2014

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

por Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P. M., Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Publicado 2018

The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling

por Schäfer, Jessica, Wenck, Nicole, Janik, Katharina, Linnert, Joshua, Stingl, Katarina, Kohl, Susanne, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe
Publicado 2023

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

por Aweidah, Hamzah, Salameh, Manar, Yahalom, Claudia, Blumenfeld, Anat, Macarov, Michal, Weisschuh, Nicole, Kohl, Susanne, Banin, Eyal, Sharon, Dror
Publicado 2021

Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions

por Righetti, Giulia, Kempf, Melanie, Braun, Christoph, Jung, Ronja, Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart, Stingl, Katarina, Stingl, Krunoslav
Publicado 2021