Kohl S - Search Results

1

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

Spitschan M, Garbazza C, Kohl S, Cajochen C. Spitschan M, et al. Among authors: kohl s. Brain Commun. 2021 Jul 18;3(3):fcab159. doi: 10.1093/braincomms/fcab159. eCollection 2021. Brain Commun. 2021. PMID: 34447932 Free PMC article.

2

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group. Reuter P, et al. Among authors: kohl s. Hum Mutat. 2008 Oct;29(10):1228-36. doi: 10.1002/humu.20790. Hum Mutat. 2008. PMID: 18521937

3

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

Aweidah H, Salameh M, Yahalom C, Blumenfeld A, Macarov M, Weisschuh N, Kohl S, Banin E, Sharon D. Aweidah H, et al. Among authors: kohl s. Mol Vis. 2021 Sep 22;27:588-600. eCollection 2021. Mol Vis. 2021. PMID: 34703197 Free PMC article.

4

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D. Zelinger L, et al. Among authors: kohl s. Ophthalmology. 2015 May;122(5):997-1007. doi: 10.1016/j.ophtha.2014.11.025. Epub 2015 Jan 21. Ophthalmology. 2015. PMID: 25616768

5

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group. Mayer AK, et al. Among authors: kohl s. Hum Mutat. 2017 Nov;38(11):1579-1591. doi: 10.1002/humu.23311. Epub 2017 Aug 28. Hum Mutat. 2017. PMID: 28795510

6

CNGB3 mutations cause severe rod dysfunction.

Maguire J, McKibbin M, Khan K, Kohl S, Ali M, McKeefry D. Maguire J, et al. Among authors: kohl s. Ophthalmic Genet. 2018 Jan-Feb;39(1):108-114. doi: 10.1080/13816810.2017.1368087. Epub 2017 Sep 20. Ophthalmic Genet. 2018. PMID: 28929832

7

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.

Kohl S, Baumann B, Dassie F, Mayer AK, Solaki M, Reuter P, Kühlewein L, Wissinger B, Maffei P. Kohl S, et al. Int J Mol Sci. 2021 Jul 22;22(15):7842. doi: 10.3390/ijms22157842. Int J Mol Sci. 2021. PMID: 34360608 Free PMC article.

8

Rod and cone function in patients with KCNV2 retinopathy.

Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H. Zobor D, et al. Among authors: kohl s. PLoS One. 2012;7(10):e46762. doi: 10.1371/journal.pone.0046762. Epub 2012 Oct 15. PLoS One. 2012. PMID: 23077521 Free PMC article.

9

Achromatopsia: on the doorstep of a possible therapy.

Zobor D, Zobor G, Kohl S. Zobor D, et al. Among authors: kohl s. Ophthalmic Res. 2015;54(2):103-8. doi: 10.1159/000435957. Epub 2015 Aug 21. Ophthalmic Res. 2015. PMID: 26304472 Review.

10

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium. Zobor D, et al. Among authors: kohl s. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. Invest Ophthalmol Vis Sci. 2017. PMID: 28159970

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