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Medecine Sciences : M/S|December 8, 2021
[JAG2-related muscular dystrophy: When differential diagnosis matters]Rocio Nur Villar-Quiles, Norma B Romero, Stojkovic Tanya
International Journal of Molecular Sciences|July 2, 2021
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular DiseasesJustine Meunier, Rocio-Nur Villar-Quiles, Isabelle Duband-Goulet, et al.
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|June 27, 2020
Confounding clinical presentation and different disease progression in CMT4B1Raquel Guimarães-Costa, Rocio-Nur Villar-Quiles, Philippe Latour, et al.
Journal of Neuromuscular Diseases|September 15, 2025
A novel <i>XPNPEP3</i> gene variant manifesting as rhabdomyolysis and exercise intoleranceKatia Staedler, Juliette Nectoux, Corinne Metay, et al.
The Clinical Teacher|January 10, 2025
Improving Examination Skills in Neuromuscular Disorders Through an Educational VideoRocio Nur Villar-Quiles, Jebrane Bouaoud, Jean Philippe Foy, et al.
Journal of Neuromuscular Diseases|February 25, 2026
Congenital core myopathy linked to <i>SOX5</i>: Expanding the phenotypical spectrum of Lamb-Shaffer syndromeKatia Staedler, Anna Gerasimenko, Caroline Nava, et al.
Neuromuscular Disorders : NMD|July 10, 2021
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT diseaseRocio-Nur Villar-Quiles, Van Thuy Le, Sarah Leonard-Louis, et al.
Journal of Neuromuscular Diseases|November 14, 2022
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMDTanya Stojkovic, Marion Masingue, Corinne Métay, et al.
Redox Biology|March 29, 2019
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistanceErsilia Varone, Diego Pozzer, Simona Di Modica, et al.
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