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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
Szczepanowsk, Karolina, Senft, Katharina, Heidler, Juliana, Herholz, Marija, Kukat, Alexandra, Hoehne, Michaela Nicole, Hofsetz, Eduard ORCID: 0000-0001-5830-4566, Becker, Christina, Kaspar, Sophie
ORCID: 0000-0002-0844-6432, Giese, Heiko, Zwicker, Klaus, Guerrero-Castillo, Sergio
ORCID: 0000-0002-6630-0562, Baumann, Linda, Kauppila, Johanna, Rumyantseva, Anastasia, Mueller, Stefan, Frese, Christian K., Brandt, Ulrich
ORCID: 0000-0003-1869-6811, Riemer, Jan, Wittig, Ilka and Trifunovic, Aleksandra
(2020).
A salvage pathway maintains highly functional respiratory complex I.
Nat. Commun., 11 (1).
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Winter, Lilli ORCID: 0000-0002-6368-1160, Wittig, Ilka, Peeva, Viktoriya, Eggers, Britta
ORCID: 0000-0002-6553-4631, Heidler, Juliana, Chevessier, Frederic, Kley, Rudolf A., Barkovits, Katalin, Strecker, Valentina, Berwanger, Carolin, Herrmann, Harald, Marcus, Katrin, Kornblum, Cornelia, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Schroeder, Rolf and Clemen, Christoph S.
(2016).
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Acta Neuropathol., 132 (3).
S. 453 - 474.
NEW YORK:
SPRINGER.
ISSN 1432-0533