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Journal Article
Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I. C., Feichtinger, Rene G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil 
ORCID: 0000-0001-9762-1169, Bjornstad, Alf, Henneke, Lisa, Gaertner, Jutta, Thiele, Holger, Tauchmannova, Katerina ORCID: 0000-0002-3745-8790, Quaghebeur, Gerardine, Houstek, Josef ORCID: 0000-0002-8413-4772, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert ORCID: 0000-0002-8833-2688, Poulton, Joanna ORCID: 0000-0002-2460-5587, Ryan, Michael T., Wittig, Ilka, Henneke, Marco and Taylor, Robert W.
(2018).
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am. J. Hum. Genet., 103 (4).
S. 592 - 602.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Doering, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut ORCID: 0000-0001-6823-9091, Ehrhardt, Laura, Fazeli, Walid ORCID: 0000-0002-9425-5535, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Moller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben ORCID: 0000-0001-7562-8546, Bertsche, Astrid, Bonfert, Michaela, Borggraefe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjorg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kuehne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stuelpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Koelker, Stefan and Syrbe, Steffen
(2020).
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Biomedicines, 8 (11).
BASEL:
MDPI.
ISSN 2227-9059
Gizak, Agnieszka ORCID: 0000-0001-9367-0270, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wisniewski, Janusz, Duda, Przemyslaw ORCID: 0000-0001-5207-4157, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Hoehne, Wolfgang, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Rakus, Dariusz ORCID: 0000-0002-3823-3163, Gaertner, Jutta and Huppke, Peter
(2021).
A novel remitting leukodystrophy associated with a variant in FBP2.
Brain Commun., 3 (2).
OXFORD:
OXFORD UNIV PRESS.
ISSN 2632-1297
Ostendorf, Thomas, Zillinger, Thomas ORCID: 0000-0002-0866-4835, Andryka, Katarzyna, Schlee-Guimaraes, Thais Marina, Schmitz, Saskia, Marx, Samira, Bayrak, Kubra, Linke, Rebecca, Salgert, Sarah, Wegner, Julia, Grasser, Tatjana, Bauersachs, Sonja, Soltesz, Leon, Huebner, Marc P., Nastaly, Maximilian, Coch, Christoph, Kettwig, Matthias, Roehl, Ingo, Henneke, Marco, Hoerauf, Achim, Barchet, Winfried ORCID: 0000-0002-6745-6606, Gaertner, Jutta, Schlee, Martin, Hartmann, Gunther and Bartok, Eva ORCID: 0000-0003-0556-1950
(2020).
Immune Sensing of Synthetic, Bacterial, and Protozoan RNA by Toll-like Receptor 8 Requires Coordinated Processing by RNase T2 and RNase 2.
Immunity, 52 (4).
S. 591 - 612.
CAMBRIDGE:
CELL PRESS.
ISSN 1097-4180