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- 2019
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Tidskriftsartikel (refereegranskat)
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- Marsili, Luca, et al.
(författare)
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SOD1-related cerebellar ataxia and motor neuron disease : Cp variant as functional modifier?
- 2024
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Ingår i: Cerebellum. - : Springer Nature. - 1473-4222 .- 1473-4230. ; 23, s. 205-209
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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