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Cell Death & Disease|December 17, 2021
Wet-dry-wet drug screen leads to the synthesis of TS1, a novel compound reversing lung fibrosis through inhibition of myofibroblast differentiationNadja Anneliese Ruth Ring, Maria Concetta Volpe, Tomaž Stepišnik, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
Pediatric Neurology|October 11, 2023
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in ChildrenGiovanna Scorrano, Gianluca D'Onofrio, Andrea Accogli, et al.
Frontiers in Molecular Neuroscience|April 23, 2024
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disordersMichele Iacomino, Nadia Houerbi, Sara Fortuna, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersPaola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.
Brain : a Journal of Neurology|September 11, 2019
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelinationStephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, et al.
American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Nature Communications|July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Christine L Dixon, Hui Guo, et al.
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