Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease von Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B, Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas, Sciacco, Monica, Ronchi, Dario, Comi, Giacomo P, Moggio, Maurizio, Quinzii, Catarina M, DiMauro, Salvatore, Calvo, Sarah E, Mootha, Vamsi K, Klopstock, Thomas, Strom, Tim M, Meitinger, Thomas, Minczuk, Michal, Kunz, Wolfram S, Prokisch, Holger

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Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy von Hallmann, Kerstin, Kudin, Alexei P, Zsurka, Gábor, Kornblum, Cornelia, Reimann, Jens, Stüve, Burkhard, Waltz, Stephan, Hattingen, Elke, Thiele, Holger, Nürnberg, Peter, Rüb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald, Kunz, Wolfram S

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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease von Lenk, Guy M., Szymanska, Krystyna, Debska-Vielhaber, Grazyna, Rydzanicz, Malgorzata, Walczak, Anna, Bekiesinska-Figatowska, Monika, Vielhaber, Stefan, Hallmann, Kerstin, Stawinski, Piotr, Buehring, Sonja, Hsu, David A., Kunz, Wolfram S., Meisler, Miriam H., Ploski, Rafal

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Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype von Zsurka, Gábor, Appel, Maximilian L T, Nastaly, Maximilian, Hallmann, Kerstin, Hansen, Niels, Nass, Daniel, Baumgartner, Tobias, Surges, Rainer, Hartmann, Gunther, Bartok, Eva, Kunz, Wolfram S

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Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans von Zsurka, Gábor, Kudina, Tatiana, Peeva, Viktoriya, Hallmann, Kerstin, Elger, Christian E, Khrapko, Konstantin, Kunz, Wolfram S

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CLCN2 variants in idiopathic generalized epilepsy von Propping, Peter, Fahlke, Christoph, Friedl, Waltraut, Schulz, Herbert, Alekov, Alexi, Lerche, Holger, Sander, Thomas, Kleefuß-Lie, Ailing, Maljevic, Snezana, Rebstock, Johannes, Ramirez, Alfredo, Cichon, Sven, Horvath, Steve, Rau, Birgit, Dullinger, Jörn S, Haverkamp, Fritz, Giese, Bernd, Elger, Christian E, Warnstedt, Maike, Beyenburg, Stefan, Hallmann, Kerstin, Hebeisen, Simon, Poser, Barbara, Kubisch, Christian, Haug, Karsten, Janz, Dieter, Müller-Newen, Gerhard

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Cytosolic, but not matrix, calcium is essential for adjustment of mitochondrial pyruvate supply von Szibor, Marten, Gizatullina, Zemfira, Gainutdinov, Timur, Endres, Thomas, Debska-Vielhaber, Grazyna, Kunz, Matthias, Karavasili, Niki, Hallmann, Kerstin, Schreiber, Frank, Bamberger, Alexandra, Schwarzer, Michael, Doenst, Torsten, Heinze, Hans-Jochen, Lessmann, Volkmar, Vielhaber, Stefan, Kunz, Wolfram S., Gellerich, Frank N.

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Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine von Nakajima, Masahiro, Kou, Ikuyo, Ohashi, Hirofumi, Ikegawa, Shiro

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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy von Hallmann, Kerstin, Zsurka, Gábor, Moskau-Hartmann, Susanna, Kirschner, Janbernd, Korinthenberg, Rudolf, Ruppert, Ann-Kathrin, Ozdemir, Ozkan, Weber, Yvonne, Becker, Felicitas, Lerche, Holger, Elger, Christian E, Thiele, Holger, Nürnberg, Peter, Sander, Thomas, Kunz, Wolfram S

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Digitale Collagen als Medium ästhetischer Interaktion: Einblicke in einen Workshop des NFKB-Forschungsclusters Interaktion und Partizipation in der Kulturellen Bildung von Hallmann, Kerstin, Hofmann, Fabian, Knauer, Jessica, Lembcke-Thiel, Astrid, Preuß, Kristine, Rosskopf, Claudia, Schmidt-Wetzel, Miriam

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Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits von von Wrede, Randi, Schidlowski, Martin, Huppertz, Hans-Jürgen, Rüber, Theodor, Ivo, Anja, Baumgartner, Tobias, Hallmann, Kerstin, Zsurka, Gábor, Helmstaedter, Christoph, Surges, Rainer, Kunz, Wolfram S

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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies von Alekov, Alexi K, Rau, Birgit, Hebeisen, Simon, Propping, Peter, Haverkamp, Fritz, Janz, Dieter, Fahlke, Christoph, Maljevic, Snezana, Beyenburg, Stefan, Haug, Karsten, Dullinger, Joern S, Kubisch, Christian, Lerche, Holger, Elger, Christian E, Ramírez, Alfredo, Horvath, Steve, Müller-Newen, Gerhard, Rebstock, Johannes, Heils, Armin, Warnstedt, Maike, Hallmann, Kerstin, Poser, Barbara, Giese, Bernd, Sander, Thomas, Schulz, Herbert

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Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet? von Becker, Felicitas, Schubert, Julian, Weckhuysen, Sarah, Suls, Arvid, Grüninger, Steffen, Korn-Merker, Elisabeth, Hofmann-Peters, Anne, Sperner, Jürgen, Cross, Helen, Hallmann, Kerstin, Elger, Christian E, Kunz, Wolfram S, Madeleyen, René, Lerche, Holger, Weber, Yvonne G

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Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy von Becker, Felicitas, Reid, Christopher A, Hallmann, Kerstin, Tae, Han-Shen, Phillips, A Marie, Teodorescu, Georgeta, Weber, Yvonne G, Kleefuss-Lie, Ailing, Elger, Christian, Perez-Reyes, Edward, Petrou, Steven, Kunz, Wolfram S, Lerche, Holger, Maljevic, Snezana

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POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts von Stewart, Joanna D., Schoeler, Susanne, Sitarz, Kamil S., Horvath, Rita, Hallmann, Kerstin, Pyle, Angela, Yu-Wai-Man, Patrick, Taylor, Robert W., Samuels, David C., Kunz, Wolfram S., Chinnery, Patrick F.

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Digitale Collagen als Medium ästhetischer Interaktion von Kerstin Hallmann, Fabian Hofmann, Jessica Knauer, Astrid Lembcke-Thiel, Kristine Preuß, Claudia Rosskopf, Miriam Schmidt-Wetzel

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Distinct patterns of mitochondrial genome diversity in bonobos von Zsurka, Gábor, Kudina, Tatiana, Peeva, Viktoriya, Hallmann, Kerstin, Elger, Christian E, Khrapko, Konstantin, Kunz, Wolfram S

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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A von Kasperavičiūtė, Dalia, Catarino, Claudia B, Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V S, Hallmann, Kerstin, Hildebrand, Michael S, Dahl, Hans-Henrik M, Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P, Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J, Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K, Eriksson, Kai J, Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M, Stogmann, Elisabeth

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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease von Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B., Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas, Sciacco, Monica, Ronchi, Dario, Comi, Giacomo P., Moggio, Maurizio, Quinzii, Catarina M., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Klopstock, Thomas, Strom, Tim M., Meitinger, Thomas, Minczuk, Michal, Kunz, Wolfram S., Prokisch, Holger

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Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies von Haug, Karsten, Warnstedt, Maike, Alekov, Alexi K, Sander, Thomas, Ramirez, Alfredo, Poser, Barbara, Maljevic, Snezana, Hebeisen, Simon, Kubisch, Christian, Rebstock, Johannes, Horvath, Steve, Hallmann, Kerstin, Dullinger, Joern S, Rau, Birgit, Haverkamp, Fritz, Beyenburg, Stefan, Schulz, Herbert, Janz, Dieter, Giese, Bernd, Miiller-Newen, Gerhard, Propping, Peter, Elger, Christian E, Fahlke, Christoph, Lerche, Holger, Heils, Armin

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