Publications by authors named "Simone Schimpf"

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'Behr syndrome' with OPA1 compound heterozygote mutations.
Valerio Carelli, Mario Sabatelli, Rosalba Carrozzo, Teresa Rizza, Simone Schimpf

Brain· January 2015

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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Valerio Carelli, Simone Schimpf, Nico Fuhrmann, Maria Lucia Valentino, Claudia Zanna

Hum Mol Genet· May 2011

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Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Raffaele Lodi, Caterina Tonon, Maria Lucia Valentino, David Manners, Claudia Testa, Simone Schimpf

Arch Neurol· January 2011

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OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
Piero Barboni, Michele Carbonelli, Giacomo Savini, Beatrice Foscarini, Vincenzo Parisi, Simone Schimpf

Ophthalmology· August 2010

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Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.
Nico Fuhrmann, Simone Schimpf, York Kamenisch, Beate Leo-Kottler, Christiane Alexander

Mol Neurodegener· June 2010

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OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
Claudia Zanna, Anna Ghelli, Anna Maria Porcelli, Mariusz Karbowski, Richard J Youle, Simone Schimpf

Brain· February 2008

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Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Simone Schimpf, Nico Fuhrmann, Simone Schaich, Bernd Wissinger

Hum Mutat· January 2008

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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, Ulrich Schraermeyer

Brain· April 2007

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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

Exp Eye Res· September 2006

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Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
Simone Schimpf, Simone Schaich, Bernd Wissinger

Hum Genet· February 2006

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Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
Raffaele Lodi, Caterina Tonon, Maria Lucia Valentino, Stefano Iotti, Valeria Clementi, Simone Schimpf

Ann Neurol· November 2004

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