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'Behr syndrome' with OPA1 compound heterozygote mutations.
Published in:
2015
By:
- Carelli, Valerio;
- Sabatelli, Mario;
- Carrozzo, Rosalba;
- Rizza, Teresa;
- Schimpf, Simone;
- Wissinger, Bernd;
- Zanna, Claudia;
- Rugolo, Michela;
- La Morgia, Chiara;
- Caporali, Leonardo;
- Carbonelli, Michele;
- Barboni, Piero;
- Tonon, Caterina;
- Lodi, Raffaele;
- Bertini, Enrico
Publication type:
Letter
‘Behr syndrome’ with OPA1 compound heterozygote mutations.
Published in:
2015
By:
- Carelli, Valerio;
- Sabatelli, Mario;
- Carrozzo, Rosalba;
- Rizza, Teresa;
- Schimpf, Simone;
- Wissinger, Bernd;
- Zanna, Claudia;
- Rugolo, Michela;
- La Morgia, Chiara;
- Caporali, Leonardo;
- Carbonelli, Michele;
- Barboni, Piero;
- Tonon, Caterina;
- Lodi, Raffaele;
- Bertini, Enrico
Publication type:
Letter to the Editor
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
Published in:
Human Genetics, 2006, v. 118, n. 6, p. 767, doi. 10.1007/s00439-005-0096-7
By:
- Schimpf, Simone;
- Schaich, Simone;
- Wissinger, Bernd
Publication type:
Article
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Published in:
PLoS ONE, 2021, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0253987
By:
- Weisschuh, Nicole;
- Schimpf-Linzenbold, Simone;
- Mazzola, Pascale;
- Kieninger, Sinja;
- Xiao, Ting;
- Kellner, Ulrich;
- Neuhann, Teresa;
- Kelbsch, Carina;
- Tonagel, Felix;
- Wilhelm, Helmut;
- Kohl, Susanne;
- Wissinger, Bernd
Publication type:
Article
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0795-x
By:
- Kloth, Katja;
- Synofzik, Matthis;
- Kernstock, Christoph;
- Schimpf-Linzenbold, Simone;
- Schuettauf, Frank;
- Neu, Axel;
- Wissinger, Bernd;
- Weisschuh, Nicole
Publication type:
Article
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 352, doi. 10.1093/brain/awm335
By:
- Claudia Zanna;
- Anna Ghelli;
- Anna Maria Porcelli;
- Mariusz Karbowski;
- Richard J. Youle;
- Simone Schimpf;
- Bernd Wissinger;
- Marcello Pinti;
- Andrea Cossarizza;
- Sara Vidoni;
- Maria Lucia Valentino;
- Michela Rugolo;
- Valerio Carelli
Publication type:
Article
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Published in:
2007
By:
- Alavi MV;
- Better 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, Marcel V;
- Bette, Stefanie;
- Schimpf, Simone;
- Schuettauf, Frank;
- Schraermeyer, Ulrich;
- Wehrl, Hans F
Publication type:
journal article
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 4, p. 1029
By:
- Marcel V. Alavi;
- Stefanie Bette;
- Simone Schimpf;
- Frank Schuettauf;
- Ulrich Schraermeyer;
- Hans F. Wehrl;
- Lukas Ruttiger;
- Susanne C. Beck;
- Felix Tonagel;
- Bernd J. Pichler;
- Marlies Knipper;
- Thomas Peters;
- Juergen Laufs;
- Bernd Wissinger
Publication type:
Article
Deficit of in vivo mitochondrial ATP production in OPA1‐related dominant optic atrophy.
Published in:
Annals of Neurology, 2004, v. 56, n. 5, p. 719
By:
- Raffaele Lodi;
- Caterina Tonon;
- Maria Lucia Valentino;
- Stefano Iotti;
- Valeria Clementi;
- Emil Malucelli;
- Piero Barboni;
- Lora Longanesi;
- Simone Schimpf;
- Bernd Wissinger;
- Agostino Baruzzi;
- Bruno Barbiroli;
- Valerio Carelli
Publication type:
Article
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73557-4
By:
- Neumann, Marie Anne-Catherine;
- Grossmann, Dajana;
- Schimpf-Linzenbold, Simone;
- Dayan, Dana;
- Stingl, Katarina;
- Ben-Menachem, Reut;
- Pines, Ophry;
- Massart, François;
- Delcambre, Sylvie;
- Ghelfi, Jenny;
- Bohler, Jill;
- Strom, Tim;
- Kessel, Amit;
- Azem, Abdussalam;
- Schöls, Ludger;
- Grünewald, Anne;
- Wissinger, Bernd;
- Krüger, Rejko
Publication type:
Article
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071
By:
- Carelli, Valerio;
- Schimpf, Simone;
- Fuhrmann, Nico;
- Valentino, Maria Lucia;
- Zanna, Claudia;
- Iommarini, Luisa;
- Papke, Monika;
- Schaich, Simone;
- Tippmann, Sabine;
- Baumann, Britta;
- Barboni, Piero;
- Longanesi, Lora;
- Rugolo, Michela;
- Ghelli, Anna;
- Alavi, Marcel V.;
- Youle, Richard J.;
- Bucchi, Laura;
- Carroccia, Rosanna;
- Giannoccaro, Maria Pia;
- Tonon, Caterina
Publication type:
Article
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Published in:
Acta Ophthalmologica (1755375X), 2022, v. 100, n. 3, p. e847, doi. 10.1111/aos.14958
By:
- Nowomiejska, Katarzyna;
- Nasser, Fadi;
- Stingl, Katarina;
- Schimpf‐Linzenbold, Simone;
- Biskup, Saskia;
- Brzozowska, Agnieszka;
- Rejdak, Robert;
- Kohl, Susanne;
- Zrenner, Eberhart
Publication type:
Article
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.
Published in:
Molecular Neurodegeneration, 2010, v. 5, p. 25, doi. 10.1186/1750-1326-5-25
By:
- Fuhrmann, Nico;
- Schimpf, Simone;
- Kamenisch, York;
- Leo-Kottler, Beate;
- Alexander, Christiane;
- Auburger, Georg;
- Zrenner, Eberhart;
- Wissinger, Bernd;
- Alavi, Marcel V.
Publication type:
Article
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Published in:
Human Mutation, 2008, v. 29, n. 1, p. 106, doi. 10.1002/humu.20607
By:
- Schimpf, Simone;
- Fuhrmann, Nico;
- Schaich, Simone;
- Wissinger, Bernd
Publication type:
Article
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.
Published in:
Genes, 2017, v. 8, n. 10, p. 283, doi. 10.3390/genes8100283
By:
- Llavona, Pablo;
- Pinelli, Michele;
- Mutarelli, Margherita;
- Marwah, Veer Singh;
- Schimpf-Linzenbold, Simone;
- Thaler, Sebastian;
- Yoeruek, Efdal;
- Vetter, Jan;
- Kohl, Susanne;
- Wissinger, Bernd
Publication type:
Article

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