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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
Huemer, Martina ORCID: 0000-0002-0590-678X, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Ben Zeev, Bruria, Chinnery, Patrick F., Dionisi-Vici, Carlo ORCID: 0000-0002-0007-3379, Dobbelaere, Dries, Gokcay, Gulden, Demirkol, Muebeccel, Haeberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew A., Niezen-Koning, Klary E., Plecko, Barbara ORCID: 0000-0002-3203-1325, Parini, Rossella ORCID: 0000-0003-4505-1306, Rokicki, Dariusz ORCID: 0000-0002-9736-2838, Schiff, Manuel ORCID: 0000-0001-8272-232X, Schimmel, Mareike, Sewell, Adrian C., Sperl, Wolfgang, Spiekerkoetter, Ute, Steinmann, Beat, Taddeucci, Grazia, Trejo-Gabriel-Galan, Jose M., Trefz, Friedrich, Tsuji, Megumi, Antonia Vilaseca, Maria, von Kleist-Retzow, Juergen-Christoph, Walker, Valerie, Zeman, Jiri ORCID: 0000-0002-2678-7919, Baumgartner, Matthias R. and Fowler, Brian
(2016).
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J. Inherit. Metab. Dis., 39 (1).
S. 115 - 125.
HOBOKEN:
WILEY.
ISSN 1573-2665