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Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.
Neurology|August 5, 2024
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian NetworkSara Bortolani, Marco Savarese, Gaetano Vattemi, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Ebiomedicine|August 27, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, et al.
JAMA Neurology|November 29, 2024
Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASILGido Gravesteijn, Julie W Rutten, Minne N Cerfontaine, et al.
Human Molecular Genetics|July 21, 2022
Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.
European Journal of Human Genetics : EJHG|March 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individualsQuentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
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