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Scientific Reports|December 12, 2025
Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variantMiroslaw Bik-Multanowski, Sylwia Bobis-Wozowicz, Marcin Piejko, et al.Frontiers in Immunology|May 10, 2024
Extracellular vesicles secreted by 3D tumor organoids are enriched for immune regulatory signaling biomolecules compared to conventional 2D glioblastoma cell systemsMartina Schuster, Frank K Braun, Dapi Meng-Lin Chiang, et al.Cerebral Cortex (New York, N.Y. : 1991)|March 28, 2023
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotypeEllen Knierim, Johannes Vogt, Michael Kintscher, et al.Molecular Pharmacology|May 6, 2008
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel poreJean-Charles Hoda, Wenli Gu, Marc Friedli, et al.Archives of Neurology|November 19, 2003
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardationYong-Won Cho, Gholam K Motamedi, Iris Laufenberg, et al.Annals of Neurology|March 30, 2004
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathySamuel F Berkovic, Sarah E Heron, Lucio Giordano, et al.Intensive Care Medicine Experimental|September 3, 2021
Progranulin signaling in sepsis, community-acquired bacterial pneumonia and COVID-19: a comparative, observational studyFlorian Brandes, Melanie Borrmann, Dominik Buschmann, et al.Oncotarget|January 24, 2022
Seventh BHD international symposium: recent scientific and clinical advancementMark R Woodford, Avgi Andreou, Masaya Baba, et al.Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.Pageof 8