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

OBJECTIVES: Genetic variant classification is a challenge in rare adult‐onset disorders as in SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including protein mo...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045942/
https://www.ncbi.nlm.nih.gov/pubmed/33739604
http://dx.doi.org/10.1002/acn3.51315

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