Projektdetails
| Status | Abgeschlossen |
|---|---|
| Tatsächlicher Beginn/ -es Ende | 1/02/12 → 1/02/15 |
Publikationen
- 3 Originalarbeit
-
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
Hempel, M., Kremer, L. S., Tsiakas, K., Alhaddad, B., Haack, T. B., Löbel, U., Feichtinger, R. (Co-Autor/-in), Sperl, W. (Co-Autor/-in), Prokisch, H., Mayr, J. A. (Letztautor/-in) & Santer, R., 2017, in: MITOCHONDRION. 37, S. 55-61Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung
22 Quellenangaben (Web of Science) -
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
Koch, J. (Erstautor/-in), Feichtinger, R. (Co-Autor/-in), Freisinger, P., Pies, M., Schrödl, F. (Co-Autor/-in), Iuso, A., Sperl, W. (Co-Autor/-in), Mayr, J. A. (Co-Autor/-in), Prokisch, H. & Haack, T. B., 2016, in: JOURNAL OF MEDICAL GENETICS . 53, 4, S. 270-278Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung
96 Quellenangaben (Web of Science) -
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Kennedy, H., Haack, T. B., Hartill, V., Mataković, L., Baumgartner, E. R., Potter, H., Mackay, R., Alston, C. L., O"Sullivan, S., McFarland, R., Connolly, G., Gannon, C., King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C. M., Sage, M., Höfken, T. & Alhaddad, B. &15 mehr, , 2016, in: AMERICAN JOURNAL OF HUMAN GENETICS . 99, 3, S. 674-682Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung
51 Quellenangaben (Web of Science)