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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare other Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare other Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
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Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact2025 Figshare other Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Céline Léon, Céline Renoux, Malika Balduyck, Cyril Dourthe, Jean‐William Dupuy, Anne‐Aurélie Raymond, +2 more
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Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare other Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more
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Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare other Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more
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Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
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