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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
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
Huppke, Peter, Wegener, Eike, Gilley, Jonathan, Angeletti, Carlo, Kurth, Ingo, Drenth, Joost P. H., Stadelmann, Christine ORCID: 0000-0003-1766-5458, Barrantes-Freer, Alonso, Brueck, Wolfgang, Thiele, Holger, Nuernberg, Peter, Gaertner, Jutta, Orsomando, Giuseppe ORCID: 0000-0001-6640-097X and Coleman, Michael P.
(2019).
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.
Exp. Neurol., 320.
SAN DIEGO:
ACADEMIC PRESS INC ELSEVIER SCIENCE.
ISSN 1090-2430
Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kuehn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mueller, Michael and Gaertner, Jutta (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723
Luebben, Anna, V, Bender, Daniel ORCID: 0000-0002-2975-4186, Becker, Stefan, Crowther, Lisa M., Erven, Ilka ORCID: 0000-0002-1095-6861, Hofmann, Kay, Soeding, Johannes, Klemp, Henry ORCID: 0000-0002-3147-3017, Bellotti, Cristina ORCID: 0000-0002-3999-2807, Stauble, Andreas, Qiu, Tian, Kathayat, Rahul S., Dickinson, Bryan C., Gaertner, Jutta, Sheldrick, George M., Kraetzner, Ralph and Steinfeld, Robert
(2022).
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.
Sci. Adv., 8 (15).
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 2375-2548
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
Weissbach, Susann, Reinert, Marie-Christine, Altmueller, Janine, Kraetzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nuernberg, Peter and Gaertner, Jutta (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med. Genet. A, 173 (10). S. 2803 - 2808. HOBOKEN: WILEY. ISSN 1552-4833