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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 25, 2022
Mechanisms of myostatin and activin A accumulation in chronic kidney diseaseStanislas Bataille, Laetitia Dou, Marc Bartoli, et al.
Cells|July 14, 2016
Antisense-Based Progerin Downregulation in HGPS-Like Patients' CellsKarim Harhouri, Claire Navarro, Camille Baquerre, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 23, 2023
Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulationStanislas Bataille, Nathalie McKay, Laetitia Koppe, et al.
Genes|July 27, 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, et al.
Neurobiology of Disease|January 6, 2022
Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1Rémi Bos, Khalil Rihan, Patrice Quintana, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 1, 2021
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorderKhaoula Rochdi, Mathieu Cerino, Nathalie Da Silva, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 16, 2026
Restoring the interplay between the endoplasmic reticulum and mitochondria by gene therapy improves Charcot-Marie-Tooth type 2A diseaseMarine Tessier, Zeinab Hamze, Nathalie Bonello-Palot, et al.
American Journal of Human Genetics|April 16, 2013
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermiaThassadite Dirami, Baptiste Rode, Mathilde Jollivet, et al.
American Journal of Medical Genetics. Part A|June 30, 2023
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformitiesAbdelkrim Saadi, Claire Navarro, Ozge Ozalp, et al.
The American Journal of Pathology|June 11, 2025
Early endosome disturbance and endolysosomal pathway dysfunction in Duchenne muscular dystrophyJulie Chassagne, Nathalie Da Silva, Ines Akrouf, et al.
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