Bernd Wissinger

Overview

Best Publications

• OPA1, encoding a dynamin-related GTPase is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

  C Alexander;M Votruba;U.E.A Pesch;D.L Thiselton

  1604
  Citations

• OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes

  Patrizia Amati-Bonneau;Maria Lucia Valentino;Pascal Reynier;Maria Esther Gallardo

  586
  Citations

• RNA Editing in Plant Mitochondria

  Rudolf Hiesel;Bernd Wissinger;Wolfgang Schuster;Axel Brennicke

  524
  Citations

• OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.

  Claudia Zanna;Anna Ghelli;Anna Maria Porcelli;Mariusz Karbowski

  418
  Citations

• Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

  Anneke I. den Hollander;John R. Heckenlively;L. Ingeborgh van den Born;Yvette J.M. de Kok

  408
  Citations

• Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

  Susanne Kohl;Tim Marx;Ian Giddings;Herbert Jägle

  402
  Citations

• CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

  Bernd Wissinger;Daphne Gamer;Herbert Jägle;Roberto Giorda

  355
  Citations

• A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

  Marcel V Alavi;Stefanie Bette;Simone Schimpf;Frank Schuettauf

  318
  Citations

• The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

  Carsten M. Pusch;Christina Zeitz;Oliver Brandau;Katrin Pesch

  297
  Citations

• Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

  Susanne Kohl;Britta Baumann;Martina Broghammer;Herbert Jägle

  294
  Citations

• Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

  Susanne Kohl;Britta Baumann;Thomas Rosenberg;Ulrich Kellner

  293
  Citations

• Trans splicing in oenothera mitochondria: nad1 mRNAs are edited in exon and trans-splicing group II intron sequences

  Bernd Wissinger;Wolfgang Schuster;Axel Brennicke

  283
  Citations

• Genome-wide association analysis identifies TXNRD2 , ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

  Jessica N.Cooke Bailey;Stephanie J. Loomis;Jae H. Kang;R. Rand Allingham

  281
  Citations

• Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

  Nicola Glöckle;Susanne Kohl;Julia Mohr;Tim Scheurenbrand

  279
  Citations

• Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

  Andreas R Janecke;Debra A Thompson;Gerd Utermann;Christian Becker

  274
  Citations

• TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

  Isabelle Audo;Susanne Kohl;Bart P. Leroy;Francis L. Munier

  270
  Citations

• OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

  Ulrike E.A. Pesch;Beate Leo-Kottler;Simone Mayer;Bernhard Jurklies

  269
  Citations

• CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

  Susanne Kohl;Balazs Varsanyi;Balazs Varsanyi;Gesine Abadin Antunes;Britta Baumann

  268
  Citations

• A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics.

  Nguyen D;Alavi Mv;Kim Ky;Kang T

  241
  Citations

• Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

  Christina Zeitz;Barbara Kloeckener-Gruissem;Ursula Forster;Susanne Kohl

  232
  Citations