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Muscle & Nerve|July 1, 2026
AGRN-, LRP4-, MUSK-Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological MechanismsRocio-Nur Villar-Quiles, Damien Sternberg, Marie-Christine Nougues, et al.
Neuromuscular Disorders : NMD|February 13, 2023
Respiratory function and sleep in children with myotonic dystrophy type 1Marie Cheminelle, Marie-Christine Nougues, Arnaud Isapof, et al.
Journal of Neuromuscular Diseases|August 20, 2025
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophyJoel Iff, Isabelle Desguerre, Yunjuan Liu, et al.
Frontiers in Pediatrics|January 9, 2023
Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1Sophie Boursange, Marco Araneda, Caroline Stalens, et al.
Scientific Reports|August 28, 2023
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndromeMarion Masingue, Olivia Cattaneo, Nicolas Wolff, et al.
Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.
Movement Disorders Clinical Practice|April 7, 2025
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/HyperekplexiaDiane Pina, Agathe Roubertie, Marie-Aude Spitz, et al.
Neurology. Genetics|March 4, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesStéphanie Bauché, Alain Sureau, Damien Sternberg, et al.
Clinical Genetics|July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM proteinMinna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
Frontiers in Pediatrics|March 6, 2020
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' ReportsMarie Hully, Christine Barnerias, Delphine Chabalier, et al.
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