Schimpf S - Search Results

1

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. Hum Mutat. 2008 Jan;29(1):106-12. doi: 10.1002/humu.20607. Hum Mutat. 2008. PMID: 17722006

2

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. Hum Genet. 2006 Feb;118(6):767-71. doi: 10.1007/s00439-005-0096-7. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323009

3

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: schimpf s. Brain. 2007 Apr;130(Pt 4):1029-42. doi: 10.1093/brain/awm005. Epub 2007 Feb 21. Brain. 2007. PMID: 17314202

4

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Fuhrmann N, Schimpf S, Kamenisch Y, Leo-Kottler B, Alexander C, Auburger G, Zrenner E, Wissinger B, Alavi MV. Fuhrmann N, et al. Among authors: schimpf s. Mol Neurodegener. 2010 Jun 14;5:25. doi: 10.1186/1750-1326-5-25. Mol Neurodegener. 2010. PMID: 20546606 Free PMC article.

5

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B. Carelli V, et al. Among authors: schimpf s. Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349918

6

'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: schimpf s. 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.

7

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: schimpf s. Ann Neurol. 2004 Nov;56(5):719-23. doi: 10.1002/ana.20278. Ann Neurol. 2004. PMID: 15505825

8

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: schimpf s. 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

9

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.

Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri A, Sadun F, Zeviani M, Sadun AA, Schimpf S, Wissinger B, Carelli V. Barboni P, et al. Among authors: schimpf s. Ophthalmology. 2010 Aug;117(8):1547-53. doi: 10.1016/j.ophtha.2009.12.042. Epub 2010 Apr 24. Ophthalmology. 2010. PMID: 20417568

10

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: schimpf s. Brain. 2008 Feb;131(Pt 2):352-67. doi: 10.1093/brain/awm335. Brain. 2008. PMID: 18222991

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