Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
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Published in Brain (London, England : 1878) (29.04.2022)
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Published in European journal of human genetics : EJHG (01.02.2023)
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De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila
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Published in Human molecular genetics (29.09.2022)
Published in Human molecular genetics (29.09.2022)
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Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing
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Published in Brain communications (01.01.2021)
Published in Brain communications (01.01.2021)
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