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Frontiers in Medicine|March 30, 2026
West Nile virus neuroinvasive disease and cardiac involvement in critically ill patients in central Italy: a case seriesNardi Tetaj, Maria Grazia Bocci, Giulia Capecchi, et al.
Annals of Clinical and Translational Neurology|September 12, 2021
L1CAM variants cause two distinct imaging phenotypes on fetal MRIAndrea Accogli, Stacy Goergen, Giana Izzo, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, 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.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, Bernt Popp, Esther Güse, et al.
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