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  1. 1
    Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

    Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant? by Jakub Sikora, Ivana Jedlickova, Anna Pristoupilova, Viktor Stranecky, Tomas Honzik

    Published 2021-04-01
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  2. 2
    Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

    Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing by Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch

    Published 2020-07-01
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