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Bernd Wissinger
Bernd Wissinger
未知所在单位机构
在 uni-tuebingen.de 的电子邮件经过验证
标题
引用次数
引用次数
年份
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander, M Votruba, UEA Pesch, DL Thiselton, S Mayer, A Moore, ...
Nature genetics 26 (2), 211-215, 2000
15762000
OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes
P Amati-Bonneau, ML Valentino, P Reynier, ME Gallardo, B Bornstein, ...
Brain 131 (2), 338-351, 2008
5732008
RNA editing in plant mitochondria
R Hiesel, B Wissinger, W Schuster, A Brennicke
Science 246 (4937), 1632-1634, 1989
4911989
Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
S Kohl, T Marx, I Giddings, H Jägle, SG Jacobson, E Apfelstedt-Sylla, ...
Nature genetics 19 (3), 257-259, 1998
4181998
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
AI den Hollander, JR Heckenlively, LI van den Born, YJM de Kok, ...
The American Journal of Human Genetics 69 (1), 198-203, 2001
4152001
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
C Zanna, A Ghelli, AM Porcelli, M Karbowski, RJ Youle, S Schimpf, ...
Brain 131 (2), 352-367, 2008
4092008
Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to …
S Kohl, B Baumann, M Broghammer, H Jägle, P Sieving, U Kellner, ...
Human molecular genetics 9 (14), 2107-2116, 2000
3622000
CNGA3 mutations in hereditary cone photoreceptor disorders
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ...
The American Journal of Human Genetics 69 (4), 722-737, 2001
3612001
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
CM Pusch, C Zeitz, O Brandau, K Pesch, H Achatz, S Feil, C Scharfe, ...
Nature genetics 26 (3), 324-327, 2000
3102000
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy
MV Alavi, S Bette, S Schimpf, F Schuettauf, U Schraermeyer, HF Wehrl, ...
Brain 130 (4), 1029-1042, 2007
3042007
Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia
S Kohl, B Baumann, T Rosenberg, U Kellner, B Lorenz, M Vadala, ...
The American Journal of Human Genetics 71 (2), 422-425, 2002
2942002
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
N Glöckle, S Kohl, J Mohr, T Scheurenbrand, A Sprecher, N Weisschuh, ...
European journal of human genetics 22 (1), 99-104, 2014
2892014
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
S Kohl, B Varsanyi, GA Antunes, B Baumann, CB Hoyng, H Jägle, ...
European Journal of Human Genetics 13 (3), 302-308, 2005
2772005
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...
The American Journal of Human Genetics 85 (5), 720-729, 2009
2732009
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
AR Janecke, DA Thompson, G Utermann, C Becker, CA Hübner, ...
Nature genetics 36 (8), 850-854, 2004
2662004
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma
JNC Bailey, SJ Loomis, JH Kang, RR Allingham, P Gharahkhani, CC Khor, ...
Nature genetics 48 (2), 189-194, 2016
2622016
A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics
D Nguyen, MV Alavi, KY Kim, T Kang, RT Scott, YH Noh, JD Lindsey, ...
Cell death & disease 2 (12), e240-e240, 2011
2412011
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
UEA Pesch, B Leo-Kottler, S Mayer, B Jurklies, U Kellner, ...
Human Molecular Genetics 10 (13), 1359-1368, 2001
2232001
Trans splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans-splicing group II intron sequences
B Wissinger, W Schuster, A Brennicke
Cell 65 (3), 473-482, 1991
2231991
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ...
Nature genetics 47 (7), 757-765, 2015
2202015
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