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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Clin Transl Neurol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2021
Pynciau:
Research Articles
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg