Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

Introduction Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. Methods W...

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Vydáno v:	Journal of neurology Ročník 269; číslo 3; s. 1476 - 1484
Hlavní autoři:	De Michele, Giovanna, Galatolo, Daniele, Galosi, Serena, Mignarri, Andrea, Silvestri, Gabriella, Casali, Carlo, Leuzzi, Vincenzo, Ricca, Ivana, Barghigiani, Melissa, Tessa, Alessandra, Cioffi, Ettore, Caputi, Caterina, Riso, Vittorio, Dotti, Maria Teresa, Saccà, Francesco, De Michele, Giuseppe, Cocozza, Sirio, Filla, Alessandro, Santorelli, Filippo M.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2022 Springer Nature B.V
Témata:	Ataxia Cerebellar ataxia Cerebellum Female Genotype & phenotype Hereditary spastic paraplegia Heterozygote Humans Kinases Medicine Medicine & Public Health Mutation Neurology Neuroradiology Neurosciences Next-generation sequencing Original Communication Patients Phenotype Phenotypes Protein kinase C Protein Kinase C - genetics Purkinje cells Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics NGS targeted resequencing panel Novel mutations Spinocerebellar ataxia type 14 Broadened phenotype PRKCG
ISSN:	0340-5354, 1432-1459, 1432-1459
On-line přístup:	Získat plný text
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