Zobrazeno 1 - 3
of 3
pro vyhledávání: '"genetics [Protein Kinase C]"'
Autor:
Schmitz‐Hübsch, Tanja, Lux, Silke, Bauer, Peter, Brandt, Alexander U., Schlapakow, Elena, Greschus, Susanne, Scheel, Michael, Gärtner, Hanna, Kirlangic, Mehmet E., Gras, Vincent, Timmann, Dagmar, Synofzik, Matthis, Giorgetti, Alejandro, Carloni, Paolo, Shah, Jon N., Schöls, Ludger, Kopp, Ute, Bußenius, Lisa, Oberwahrenbrock, Timm, Zimmermann, Hanna, Pfueller, Caspar, Kadas, Ella‐Maria, Rönnefarth, Maria, Grosch, Anne‐Sophie, Endres, Matthias, Amunts, Katrin, Paul, Friedemann, Doss, Sarah, Minnerop, Martina
Publikováno v:
Annals of Clinical and Translational Neurology 8(4), 774-789 (2021). doi:10.1002/acn3.51315
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 774-789 (2021)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 774-789 (2021)
Annals of Clinical and Translational Neurology 8(4), 774-789 (2021). doi:10.1002/acn3.51315
Published by Wiley, Chichester [u.a.]
Published by Wiley, Chichester [u.a.]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb1da0a7686049a979a9dd7289510e2
http://hdl.handle.net/11562/1064676
http://hdl.handle.net/11562/1064676
Autor:
Tobias Bäumer, Odette Schunke, Simone Zittel, Alexander Münchau, Martina Minnerop, Thomas Klockgether, Christian Gerloff, Peter Bauer, Christina Heinbokel, Christine Zühlke, Christos Ganos
Publikováno v:
The Cerebellum 13(1), 89-96 (2013). doi:10.1007/s12311-013-0522-7
Spinocerebellar ataxia type 14 (SCA14) is an autosomal-dominant ataxia caused by point mutations of the Protein Kinase C Gamma gene. In addition to slowly progressive cerebellar ataxia, it is characterised by dystonia and myoclonus. With scant neurop