SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?

Autor:	Marsili, Luca, Davis, Jennie L., Espay, Alberto J., Gilthorpe, Jonathan, Williams, Chloe, Kauffman, Marcelo A., Porollo, Aleksey
Předmět:	MOTOR neuron diseases CEREBELLAR ataxia AMYOTROPHIC lateral sclerosis PROTEIN structure SUPEROXIDE dismutase
Zdroj:	Cerebellum; Feb2024, Vol. 23 Issue 1, p205-209, 5p
Abstrakt:	We describe a novel superoxide dismutase (SOD1) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin (Cp) gene, which may have possibly contributed to a multi-factorial phenotype, supported by genetic and protein structure analyses. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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