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Journal Article
Hosseinibarkooie, Seyyedmohsen, Peters, Miriam, Torres-Benito, Laura, Rastetter, Raphael H., Hupperich, Kristina, Hoffmann, Andrea, Mendoza-Ferreira, Natalia, Kaczmarek, Anna, Janzen, Eva, Milbradt, Janine, Lamkemeyer, Tobias, Rigo, Frank, Bennett, C. Frank, Guschlbauer, Christoph, Bueschges, Ansgar, Hammerschmidt, Matthias, Riessland, Markus 
ORCID: 0000-0003-2592-5045, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Clemen, Christoph S. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2016).
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Am. J. Hum. Genet., 99 (3).
S. 647 - 666.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Mendoza-Ferreira, Natalia, Coutelier, Marie ORCID: 0000-0002-0261-7210, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Loehr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus ORCID: 0000-0003-2592-5045, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni ORCID: 0000-0001-9368-8657 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2018).
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Neurol.-Genet., 4 (1).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839
van Dijk, Fleur S., Zillikens, M. Carola, Micha, Dimitra ORCID: 0000-0001-7890-4411, Riessland, Markus ORCID: 0000-0003-2592-5045, Marcelis, Carlo L. M., de Die-Smulders, Christine E., Milbradt, Janine, Franken, Anton A., Harsevoort, Arjan J., Lichtenbelt, Klaske D., Pruijs, Hans E., Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M., Bakker, Astrid D., Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J., Verkerk, Annemieke J. M. H., Uitterlinden, Andre G., Maugeri, Alessandra, Sistermans, Erik A., Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Simon, Marleen E. H. and Pals, Gerard ORCID: 0000-0003-4091-7115
(2013).
PLS3 Mutations in X-Linked Osteoporosis with Fractures.
N. Engl. J. Med., 369 (16).
S. 1529 - 1537.
WALTHAM:
MASSACHUSETTS MEDICAL SOC.
ISSN 1533-4406