Wissinger B - Search Results

1

'Behr syndrome' with OPA1 compound heterozygote mutations.

Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E. Carelli V, et al. Among authors: wissinger b. Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. Brain. 2015. PMID: 25146916 Free PMC article. No abstract available.

2

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, Carelli V. Lodi R, et al. Among authors: wissinger b. Ann Neurol. 2004 Nov;56(5):719-23. doi: 10.1002/ana.20278. Ann Neurol. 2004. PMID: 15505825

3

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.

Schimpf S, Schaich S, Wissinger B. Schimpf S, et al. Among authors: wissinger b. Hum Genet. 2006 Feb;118(6):767-71. doi: 10.1007/s00439-005-0096-7. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323009

4

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.

Dadgar S, Hagens O, Dadgar SR, Haghighi EN, Schimpf S, Wissinger B, Garshasbi M. Dadgar S, et al. Among authors: wissinger b. Exp Eye Res. 2006 Sep;83(3):702-6. doi: 10.1016/j.exer.2006.03.004. Epub 2006 May 12. Exp Eye Res. 2006. PMID: 16698014

5

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

Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B. Alavi MV, et al. Among authors: wissinger b. Brain. 2007 Apr;130(Pt 4):1029-42. doi: 10.1093/brain/awm005. Epub 2007 Feb 21. Brain. 2007. PMID: 17314202

6

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.

Schimpf S, Fuhrmann N, Schaich S, Wissinger B. Schimpf S, et al. Among authors: wissinger b. Hum Mutat. 2008 Jan;29(1):106-12. doi: 10.1002/humu.20607. Hum Mutat. 2008. PMID: 17722006

7

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. Amati-Bonneau P, et al. Among authors: wissinger b. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub 2007 Dec 24. Brain. 2008. PMID: 18158317 Free article.

8

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

Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B, Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V. Zanna C, et al. Among authors: wissinger b. Brain. 2008 Feb;131(Pt 2):352-67. doi: 10.1093/brain/awm335. Brain. 2008. PMID: 18222991

9

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy.

Alavi MV, Fuhrmann N, Nguyen HP, Yu-Wai-Man P, Heiduschka P, Chinnery PF, Wissinger B. Alavi MV, et al. Among authors: wissinger b. Exp Neurol. 2009 Dec;220(2):404-9. doi: 10.1016/j.expneurol.2009.09.026. Epub 2009 Oct 6. Exp Neurol. 2009. PMID: 19815013

10

Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy.

Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi MV. Heiduschka P, et al. Among authors: wissinger b. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1424-31. doi: 10.1167/iovs.09-3606. Epub 2009 Oct 15. Invest Ophthalmol Vis Sci. 2010. PMID: 19834041

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