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Orphanet Journal of Rare Diseases|September 13, 2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatmentIsabelle Desguerre, Rémi Barrois, Frédérique Audic, et al.
Acta Neuropathologica Communications|July 3, 2026
Phenotype-specific muscle proteomic profiling in titinopathiesAurélien Perrin, Marie-Rocio Casenave-Camgaston, Baptiste Rabillard, 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 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
European Heart Journal|March 6, 2026
Laminopathies: natural history and risk prediction of heart failurePhilippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.
Circulation|June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in LaminopathiesKarim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
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