Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies von Nowomiejska, Katarzyna, Nasser, Fadi, Stingl, Katarina, Schimpf‐Linzenbold, Simone, Biskup, Saskia, Brzozowska, Agnieszka, Rejdak, Robert, Kohl, Susanne, Zrenner, Eberhart

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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants von 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

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OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size von Barboni, Piero, MD, Carbonelli, Michele, MD, Savini, Giacomo, MD, Foscarini, Beatrice, MD, Parisi, Vincenzo, MD, Valentino, Maria L., MD, Carta, Arturo, MD, Negri, Annamaria De, MD, Sadun, Federico, MD, Zeviani, Massimo, MD, PhD, Sadun, Alfredo A., MD, PhD, Schimpf, Simone, PhD, Wissinger, Bernd, PhD, Carelli, Valerio, MD, PhD

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Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports von Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole

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Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy von Lodi, Raffaele, Tonon, Caterina, Valentino, Maria Lucia, Iotti, Stefano, Clementi, Valeria, Malucelli, Emil, Barboni, Piero, Longanesi, Lora, Schimpf, Simone, Wissinger, Bernd, Baruzzi, Agostino, Barbiroli, Bruno, Carelli, Valerio

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

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OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion von Zanna, Claudia, Ghelli, Anna, Porcelli, Anna Maria, Karbowski, Mariusz, Youle, Richard J., Schimpf, Simone, Wissinger, Bernd, Pinti, Marcello, Cossarizza, Andrea, Vidoni, Sara, Valentino, Maria Lucia, Rugolo, Michela, Carelli, Valerio

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'Behr syndrome' with OPA1 compound heterozygote mutations von 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

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A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy von Alavi, Marcel V., Bette, Stefanie, Schimpf, Simone, Schuettauf, Frank, Schraermeyer, Ulrich, Wehrl, Hans F., Ruttiger, Lukas, Beck, Susanne C., Tonagel, Felix, Pichler, Bernd J., Knipper, Marlies, Peters, Thomas, Laufs, Juergen, Wissinger, Bernd

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

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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16 von CARELLI, Valerio, SCHIMPF, Simone, BARBONI, Piero, LONGANESI, Lora, RUGOLO, Michela, GHELLI, Anna, ALAVI, Marcel V, YOULE, Richard J, BUCCHI, Laura, CARROCCIA, Rosanna, PIA GIANNOCCARO, Maria, TONON, Caterina, FUHRMANN, Nico, LODI, Raffaele, CENACCHI, Giovanna, MONTAGNA, Pasquale, LIGUORI, Rocco, WISSINGER, Bernd, VALENTINO, Maria Lucia, ZANNA, Claudia, LOMMARINI, Luisa, PAPKE, Monika, SCHAICH, Simone, TIPPMANN, Sabine, BAUMANN, Britta

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

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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 von SCHIMPF, Simone, SCHAICH, Simone, WISSINGER, Ernd

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A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network von Grau, Tanja, Burbulla, Lena F, Engl, Gertraud, Delettre, Cécile, Delprat, Benjamin, Oexle, Konrad, Leo-Kottler, Beate, Roscioli, Tony, Krüger, Rejko, Rapaport, Doron, Wissinger, Bernd, Schimpf-Linzenbold, Simone

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Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases von Llavona, Pablo, Pinelli, Michele, Mutarelli, Margherita, Marwah, Veer Singh, Schimpf-Linzenbold, Simone, Thaler, Sebastian, Yoeruek, Efdal, Vetter, Jan, Kohl, Susanne, Wissinger, Bernd

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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy von Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy

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

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OPAI mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Commentary von ZEVIANI, Massimo, ZANNA, Claudia, VIDONI, Sara, VALENTINO, Maria Lucia, RUGOLO, Michela, CARELLI, Valerio, GHELLI, Anna, PORCELLI, Anna Maria, KARBOWSKI, Mariusz, YOULE, Richard J, SCHIMPF, Simone, WISSINGER, Bernd, PINTI, Marcello, COSSARIZZA, Andrea

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A splice site mutation in the murine Opal gene features pathology of autosomal dominant optic atrophy von ALAVI, Marcel V, BETTE, Stefanie, KNIPPER, Marlies, PETERS, Thomas, LAUFS, Juergen, WISSINGER, Bernd, SCHIMPF, Simone, SCHUETTAUF, Frank, SCHRAERMEYER, Ulrich, WEHRL, Hans F, RUTTIGER, Lukas, BECK, Susanne C, TONAGEL, Felix, PICHLER, Bernd J

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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy von Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, European ION Group, Lenaers, Guy

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