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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
Impedance-Based Phenotypic Readout of Transporter Function: A Case for Glutamate Transporters2022 Frontiers in Pharmacology article Biochemistry, Genetics and Molecular Biology Amino Acid Enzymes and Metabolism Open access
Hubert J. Sijben, Laura Dall’ Acqua, Rongfang Liu, Eirini Christodoulaki, Svenja Onstein, Gernot Wolf, +6 more
9citations -
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism2024 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maike Franziska Dohrn, Güney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, +6 more
3citations
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