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European Journal of Neurology|August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral NeuropathyPauline Jaubert, Camille Loret, Tanya Stojkovic, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.Journal of Medical Genetics|March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyCyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.European Heart Journal|March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry dataRaphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the RORB-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Pageof 5