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Annals of Neurology|September 11, 2023
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?Martina Ricci, Gianpaolo Cicala, Anna Capasso, et al.Frontiers in Neurology|January 21, 2026
Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort studySilvia Lanfranconi, Elisa Scola, Deborah Novelli, et al.American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.Brain Communications|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcomeEleonora Manzoni, Sara Carli, Pauline Gaignard, et al.Science Translational Medicine|April 3, 2024
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle diseaseSandra Donkervoort, Martijn van de Locht, Dario Ronchi, et al.Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.Stroke|June 2, 2016
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS RegistryAnna Bersano, Hugh Stephen Markus, Silvana Quaglini, 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.Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.American Journal of Human Genetics|May 23, 2025
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathyMichele Nicastro, Alexa M C Vermeer, Pieter G Postema, et al.Pageof 12