Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology von Neuhofer, Christiane M, Prokisch, Holger

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Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum von Schmidt, Julia, Dreha-Kulaczewski, Steffi, Zafeiriou, Maria-Patapia, Schreiber, Marie-Kristin, Wilken, Bernd, Funke, Rudolf, Neuhofer, Christiane M, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Biskup, Saskia, Li, Yun, Zimmermann, Wolfram Hubertus, Kaulfuß, Silke, Yigit, Gökhan, Wollnik, Bernd

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A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia von Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke

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LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum von Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas

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The dynamic exchange of subunits in Complex I is essential for its function in differentiated cells von Wittig, Ilka, Tamez, Paulina Castaneda, Cabrera-Orefice, Alfredo, Heidler, Juliana, Giese, Heiko, Neuhofer, Christiane M., Prokisch, Holger, Brandes, Ralf P.

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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant von Blickhäuser, Beryll, Stenton, Sarah L, Neuhofer, Christiane M, Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A, McFarland, Robert, Fang, Fang, La Morgia, Chiara, Paquay, Stéphanie, Nassogne, Marie Cécile, Ghezzi, Daniele, Lamperti, Costanza, Wortmann, Saskia, Poulton, Jo, Klopstock, Thomas, Prokisch, Holger

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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant von Blickhaeuser, Beryll, Stenton, Sarah L, Neuhofer, Christiane M, Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A, McFarland, Robert, Fang, Fang, La Morgia, Chiara, Paquay, Stephanie, Nassogne, Marie Cecile, Ghezzi, Daniele, Lamperti, Costanza, Wortmann, Saskia, Poulton, Jo, Klopstock, Thomas, Prokisch, Holger

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LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum von Neuhofer, Christiane M, Catarino, Claudia B, Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B, Klopstock, Thomas

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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia von Giordano, Ilaria, Harmuth, Florian, Jacobi, Heike, Paap, Brigitte, Vielhaber, Stefan, Machts, Judith, Schöls, Ludger, Synofzik, Matthis, Sturm, Marc, Tallaksen, Chantal, Wedding, Iselin M, Boesch, Sylvia, Eigentler, Andreas, van de Warrenburg, Bart, van Gaalen, Judith, Kamm, Christoph, Dudesek, Ales, Kang, Jun-Suk, Timmann, Dagmar, Silvestri, Gabriella, Masciullo, Marcella, Klopstock, Thomas, Neuhofer, Christiane, Ganos, Christos, Filla, Alessandro, Bauer, Peter, Tezenas du Montcel, Sophie, Klockgether, Thomas

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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study von Reetz, Kathrin, MD, Dogan, Imis, PhD, Hilgers, Ralf-Dieter, Prof, Giunti, Paola, MD, Mariotti, Caterina, MD, Durr, Alexandra, MD, Boesch, Sylvia, MD, Klopstock, Thomas, MD, de Rivera, Francisco Javier Rodriguez, MD, Schöls, Ludger, Prof, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Rai, Myriam, PhD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof

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Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study von Klopstock, Thomas, Tricta, Fernando, Neumayr, Lynne, Karin, Ivan, Zorzi, Giovanna, Fradette, Caroline, Kmieć, Tomasz, Büchner, Boriana, Steele, Hannah E, Horvath, Rita, Chinnery, Patrick F, Basu, Anna, Küpper, Clemens, Neuhofer, Christiane, Kálmán, Bernadette, Dušek, Petr, Yapici, Zuhal, Wilson, Ian, Zhao, Feng, Zibordi, Federica, Nardocci, Nardo, Aguilar, Christine, Hayflick, Susan J, Spino, Michael, Blamire, Andrew M, Hogarth, Penelope, Vichinsky, Elliott

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility von Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke

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Sema3a plays a role in the pathogenesis of CHARGE syndrome von Ufartes, Roser, Schwenty-Lara, Janina, Freese, Luisa, Neuhofer, Christiane, Möller, Janika, Wehner, Peter, van Ravenswaaij-Arts, Conny M A, Wong, Monica T Y, Schanze, Ina, Tzschach, Andreas, Bartsch, Oliver, Borchers, Annette, Pauli, Silke

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Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration von Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas

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Delineating MT-ATP6-associated disease von Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Shi Yuqing, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schoels, Ludger, Distelmaier, Felix, Stettner, Georg M., Buechner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas

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Delineating MT-ATP6-associated disease. From isolated neuropathy to early onset neurodegeneration von Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D, Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M, Büchner, Boriana, Falk, Marni J, Mayr, Johannes A, Synofzik, Matthis, Abicht, Angela, Haack, Tobias B, Prokisch, Holger, Wortmann, Saskia B, Murayama, Kei, Fang, Fang, Klopstock, Thomas

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Deletion of IκBα Activates RelA to Reduce Acute Pancreatitis in Mice Through Up-regulation of Spi2A von Neuhöfer, Patrick, Liang, Song, Einwächter, Henrik, Schwerdtfeger, Christiane, Wartmann, Thomas, Treiber, Matthias, Zhang, Hong, Schulz, Hans–Ulrich, Dlubatz, Karen, Lesina, Marina, Diakopoulos, Kalliope N, Wörmann, Sonja, Halangk, Walter, Witt, Heiko, Schmid, Roland M, Algül, Hana

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Delineating MT-ATP6-associated disease von Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Shi, Yuqing, Ganetzky, Rebecca D, Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schoels, Ludger, Distelmaier, Felix, Stettner, Georg M, Buechner, Boriana, Falk, Marni J, Mayr, Johannes A, Synofzik, Matthis, Abicht, Angela, Haack, Tobias B, Prokisch, Holger, Wortmann, Saskia B, Murayama, Kei, Fang, Fang, Klopstock, Thomas

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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia von Giordano, Ilaria, Harmuth, Florian, Jacobi, Heike, Paap, Brigitte, Vielhaber, Stefan, Machts, Judith, Schöls, Ludger, Synofzik, Matthis, Sturm, Marc, Tallaksen, Chantal, Wedding, Iselin M, Bösch, Sylvia, Eigentler, Andreas, Warrenburg, Bart van de, Gaalen, Judith van, Kamm, Christoph, Dudesek, Ales, Kang, Jun-Suk, Timmann, Dagmar, Silvestri, Gabriella, Masciullo, Marcella, Klopstock, Thomas, Neuhofer, Christiane, Ganos, Christos, Filla, Alessandro, Bauer, Peter, Montcel, Sophie Tezenas du, Klockgether, Thomas

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