Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder

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
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Adult Male genetics [Protein Kinase C] physiopathology [Spinocerebellar Ataxias] Neurosciences. Biological psychiatry. Neuropsychiatry Cross-Sectional Studies Disease Progression Humans Spinocerebellar Ataxias diagnosis [Spinocerebellar Ataxias] Female Neurology. Diseases of the nervous system ddc:610 genetics [Spinocerebellar Ataxias] Prospective Studies Age of Onset Function and Dysfunction of the Nervous System RC346-429 600 Technik Medizin angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit Research Articles Protein Kinase C RC321-571 Research Article
Zdroj:	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)
DOI:	10.1002/acn3.51315
Popis:	Annals of Clinical and Translational Neurology 8(4), 774-789 (2021). doi:10.1002/acn3.51315 Published by Wiley, Chichester [u.a.]
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb1da0a7686049a979a9dd7289510e2 http://hdl.handle.net/11562/1064676 Zobrazit plný text záznamu