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1

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

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

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 82 KB

english, 2004

2

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

Simone Schimpf, Nico Fuhrmann, Simone Schaich, Bernd Wissinger

Journal:

Year:

2008

Language:

english

File:

PDF, 311 KB

english, 2008

3

Solving a 50 year mystery of a missingOPA1mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

Nico Fuhrmann, Simone Schimpf, York Kamenisch, Beate Leo-Kottler, Christiane Alexander, Georg Auburger, Eberhart Zrenner, Bernd Wissinger, Marcel V Alavi

Journal:

Molecular Neurodegeneration

Year:

2010

Language:

english

File:

PDF, 1.43 MB

english, 2010

4

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of theOPA1gene

Simone Schimpf, Simone Schaich, Bernd Wissinger

Journal:

Year:

2006

Language:

english

File:

PDF, 352 KB

english, 2006

5

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

Sharareh Dadgar, Olivier Hagens, Seyed Razi Dadgar, Ehsan Nobakht Haghighi, Simone Schimpf, Bernd Wissinger, Masoud Garshasbi

Journal:

Experimental Eye Research

Year:

2006

Language:

english

File:

PDF, 381 KB

english, 2006

6

The significance of chemical, isotopic, and detrital components in three coeval stalagmites from the superhumid southernmost Andes (53°S) as high-resolution palaeo-climate proxies

Daniel Schimpf, Rolf Kilian, Andreas Kronz, Klaus Simon, Christoph Spötl, Gerhard Wörner, Michael Deininger, Augusto Mangini

Journal:

Quaternary Science Reviews

Year:

2011

Language:

english

File:

PDF, 2.79 MB

english, 2011

7

The value of CMV IgG avidity and immunoblot for timing the onset of primary CMV infection in pregnancy

Enders, Gisela, Daiminger, Anja, Bäder, Ursula, Exler, Simone, Schimpf, Yvonne, Enders, Martin

Journal:

Journal of Clinical Virology

Year:

2013

Language:

english

File:

PDF, 450 KB

english, 2013

8

Defective Mitochondrial Adenosine Triphosphate Production in Skeletal Muscle From Patients With Dominant Optic Atrophy Due to OPA1 Mutations

Lodi, Raffaele, Tonon, Caterina, Valentino, Maria Lucia, Manners, David, Testa, Claudia, Malucelli, Emil, La Morgia, Chiara, Barboni, Piero, Carbonelli, Michele, Schimpf, Simone, Wissinger, Bernd, Zev

Journal:

Archives of Neurology

Year:

2011

Language:

english

File:

PDF, 398 KB

english, 2011

9

Bestandserhaltung. „Sauer macht nicht immer lustig“

Baraniecka, Beata, Schimpf, Simon

Journal:

Bibliotheksdienst

Year:

2010

Language:

german

File:

PDF, 62 KB

german, 2010

10

P-135: Dickson Charge Pumps Made of Indium-Gallium-Zinc-Oxide Thin-Film Transistors on Foil-Substrates

Schimpf, Simon, Baur, Holger, Fruehauf, Norbert

Journal:

SID Symposium Digest of Technical Papers

Year:

2017

Language:

english

File:

PDF, 388 KB

english, 2017

11

User roles and team structures in a crowdsourcing community for international development – a social network perspective

Fuger, Simon, Schimpf, Robert, Füller, Johann, Hutter, Katja

Journal:

Information Technology for Development

Year:

2017

Language:

english

File:

PDF, 3.37 MB

english, 2017

12

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

Llavona, Pablo, Pinelli, Michele, Mutarelli, Margherita, Marwah, Veer Singh, Schimpf-Linzenbold, Simone, Thaler, Sebastian, Yoeruek, Efdal, Vetter, Jan, Kohl, Susanne, Wissinger, Bernd

Journal:

Year:

2017

Language:

english

File:

PDF, 2.05 MB

english, 2017

13

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 5.36 MB

english, 2019

14

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole

Journal:

BMC Medical Genetics

Year:

2019

File:

PDF, 5.36 MB

2019

15

Extreme biomimetics: Preservation of molecular detail in centimeter-scale samples of biological meshes laid down by sponges

Petrenko, Iaroslav, Summers, Adam P., Simon, Paul, Żółtowska-Aksamitowska, Sonia, Motylenko, Mykhailo, Schimpf, Christian, Rafaja, David, Roth, Friedrich, Kummer, Kurt, Brendler, Erica, Pokrovsky, Ole

Journal:

Science Advances

Year:

2019

Language:

english

File:

PDF, 1.51 MB

english, 2019

16

Extreme biomimetics: Preservation of molecular detail in centimeter-scale samples of biological meshes laid down by sponges

Petrenko, Iaroslav, Summers, Adam P., Simon, Paul, Żółtowska-Aksamitowska, Sonia, Motylenko, Mykhailo, Schimpf, Christian, Rafaja, David, Roth, Friedrich, Kummer, Kurt, Brendler, Erica, Pokrovsky, Ole

Journal:

Science Advances

Year:

2019

File:

PDF, 1.51 MB

2019

17

Highly indistinguishable single photons from incoherently excited quantum dots

Reindl, Marcus, Weber, Jonas H., Huber, Daniel, Schimpf, Christian, Covre da Silva, Saimon F., Portalupi, Simone L., Trotta, Rinaldo, Michler, Peter, Rastelli, Armando

Journal:

Physical Review B

Year:

2019

File:

PDF, 1.09 MB

2019

18

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Neumann, Marie Anne-Catherine, Grossmann, Dajana, Schimpf-Linzenbold, Simone, Dayan, Dana, Stingl, Katarina, Ben-Menachem, Reut, Pines, Ophry, Massart, FranÃ§ois, Delcambre, Sylvie, Ghelfi, Jenny, Boh

Journal:

Scientific Reports

Year:

2020

File:

PDF, 5.80 MB

2020