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Frontiers in Neurology|March 21, 2024
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoringEleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
Annals of Clinical and Translational Neurology|March 17, 2026
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain EdemaQuinty Bisseling, Mark D Parker, Sven Kerst, et al.
Journal of Inherited Metabolic Disease|February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked AdrenoleukodystrophyTroy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.
International Journal of Neonatal Screening|October 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot StudyEleonora Bonaventura, Fabio Bruschi, Luisella Alberti, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Pediatric Neurology|August 14, 2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease SeverityCostanza Varesio, Davide Politano, Laura Adang, et al.
Molecular Genetics and Metabolism|May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
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