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2019
Bender, Daniel ORCID: 0000-0002-2975-4186, Kaczmarek, Alexander Tobias, Santamaria-Araujo, Jose Angel, Stueve, Burkard, Waltz, Stephan, Bartsch, Deniz, Kurian, Leo, Cirak, Sebahattin and Schwarz, Guenter
ORCID: 0000-0002-2118-9338
(2019).
Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
Hum. Mol. Genet., 28 (17).
S. 2885 - 2900.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
2018
Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Koerber, Friederike, Stueve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline ORCID: 0000-0003-1272-0518, Maarouf, Mohammad, Coubes, Philippe and Cif, Laura
(2018).
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.
J. Neurol. Sci., 391.
S. 31 - 40.
AMSTERDAM:
ELSEVIER SCIENCE BV.
ISSN 1878-5883
2016
Hallmann, Kerstin, Kudin, Alexei P., Zsurka, Gabor ORCID: 0000-0002-6379-849X, Kornblum, Cornelia, Reimann, Jens, Stueve, Burkhard, Waltz, Stephan, Hattingen, Elke
ORCID: 0000-0002-8392-9004, Thiele, Holger, Nuernberg, Peter, Rueb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald and Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493
(2016).
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Brain, 139.
S. 338 - 346.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156