Search Results - "FUHRMANN, Nico"

Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics by Alavi, Marcel V, Fuhrmann, Nico

“…Mitochondrial quality control is fundamental to all neurodegenerative diseases, including the most prominent ones, Alzheimer's Disease and Parkinsonism. It is…”
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Polygenic adaptation from standing genetic variation allows rapid ecotype formation by Fuhrmann, Nico, Prakash, Celine, Kaiser, Tobias S

“…Adaptive ecotype formation can be the first step to speciation, but the genetic underpinnings of this process are poorly understood. Marine midges of the genus…”
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A Dipteran's Novel Sucker Punch: Evolution of Arthropod Atypical Venom with a Neurotoxic Component in Robber Flies (Asilidae, Diptera) by Drukewitz, Stephan Holger, Fuhrmann, Nico, Undheim, Eivind A B, Blanke, Alexander, Giribaldi, Julien, Mary, Rosanna, Laconde, Guillaume, Dutertre, Sébastien, von Reumont, Björn Marcus

“…Predatory robber flies (Diptera, Asilidae) have been suspected to be venomous due to their ability to overpower well-defended prey. However, details of their…”
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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 by Fuhrmann, Nico, Schimpf, Simone, Kamenisch, York, Leo-Kottler, Beate, Alexander, Christiane, Auburger, Georg, Zrenner, Eberhart, Wissinger, Bernd, Alavi, Marcel V

“…Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies…”
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Chromosome-Level Genome Assembly of the Viviparous Eelpout Zoarces viviparus by Fuhrmann, Nico, Brasseur, Marie V, Bakowski, Christina E, Podsiadlowski, Lars, Prost, Stefan, Krehenwinkel, Henrik, Mayer, Christoph

“…Abstract The viviparous eelpout Zoarces viviparus is a common fish across the North Atlantic and has successfully colonized habitats across environmental…”
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Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease by Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nürnberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde, Karakaya, Mert

“…Hereditary lower motor neuron diseases (LMND) other than 5q‐spinal muscular atrophy (5q‐SMA) can be classified according to affected muscle groups. Proximal…”
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A dipteran's sucker punch: Diverse venom composition of the robber flies by Drukewitz, Stephan Holger, Fuhrmann, Nico, Blanke, Alexander, Undheim, Eivind, von Reumont, Björn Marcus

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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation by Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hölker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan, Wirth, Brunhilde

“…Distal hereditary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetically heterogeneous diseases…”
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Electrophysiological and Histologic Assessment of Retinal Ganglion Cell Fate in a Mouse Model for OPA1-Associated Autosomal Dominant Optic Atrophy by Heiduschka, Peter, Schnichels, Sven, Fuhrmann, Nico, Hofmeister, Sabine, Schraermeyer, Ulrich, Wissinger, Bernd, Alavi, Marcel V

“…The main disease features of autosomal dominant optic atrophy (ADOA) are a bilateral reduction of visual acuity, cecocentral scotoma, and frequently…”
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Comparison of the ABC and ACMG systems for variant classification by Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J, Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L, Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M, Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M, Haanpää, Maria K, Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I, Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T, Laner, Andreas

“…The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases…”
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Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons by Schimpf, Simone, Fuhrmann, Nico, Schaich, Simone, Wissinger, Bernd

“…Autosomal dominant optic atrophy (adOA) is most commonly caused by mutations in the OPA1 gene. There is a considerable allelic heterogeneity among…”
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Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy by Alavi, Marcel V., Fuhrmann, Nico, Nguyen, Huu Phuc, Yu-Wai-Man, Patrick, Heiduschka, Peter, Chinnery, Patrick F., Wissinger, Bernd

“…The ubiquitously expressed gene OPA1 is the main disease causing gene for autosomal dominant optic atrophy (ADOA). These patients present with bilateral…”
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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16 by 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

“…Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3 genes, both encoding for…”
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