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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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2021
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Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8045942/
https://ncbi.nlm.nih.gov/pubmed/33739604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51315
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