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Kidney International Reports|June 19, 2026
IgM Hyposialylation Modulates Podocyte Vulnerability in Patients With Idiopathic Nephrotic SyndromeSonia Spinelli, Sofia Gaudiano, Andrea Garbarino, et al.
Kidney International Reports|June 30, 2026
Steroid-Resistant Idiopathic Nephrotic Syndrome Reveals a Distinct Maladaptive Molecular StateSonia Spinelli, Sofia Gaudiano, Andrea Garbarino, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Frontiers in Molecular Neuroscience|April 23, 2024
Allelic heterogeneity and abnormal vesicle recycling in <i>PLAA</i>-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.
Cerebellum (London, England)|February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentAndrea Accogli, Shenzhao Lu, Ilaria Musante, et al.
American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.
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