 | Up a level |
2020
Solomon-Degefa, Herimela, Gebauer, Jan M., Jeffries, Cy M., Freiburg, Carolin D., Meckelburg, Patrick, Bird, Louise E., Baumann, Ulrich, Svergun, Dmitri I., Owens, Raymond J., Werner, Jorn M., Behrmann, Elmar, Paulsson, Mats and Wagener, Raimund (2020). Structure of a collagen VI alpha 3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations. J. Biol. Chem., 295 (36). S. 12755 - 12772. ROCKVILLE: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X
2019
Bolduc, Veronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan 
ORCID: 0000-0001-8440-3074, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valerie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric ORCID: 0000-0002-4064-1844, Wilton, Steve D., Lamande, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco and Bonnemann, Carsten G.
(2019).
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight, 4 (6).
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 2379-3708
Solomon-Degefa, Herimela (2019). Structural and functional characterisation of collagen VI: Implications in the development of myopathies. Thesis Abstract, Universität zu Köln.