Nathalie Da Silva

发表

Recombinant Hepatitis E Viruses Harboring Tags in the ORF1 Protein

D. Moradpour, Dagmara Szkolnicka, Á. Pollán, 2019, Journal of Virology.

Towards plant resistance to viruses using protein-only RNase P

P. Giegé, Nathalie Da Silva, I. Jupin, 2021, Nature Communications.

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.

A. Barakat, S. Gorokhova, M. Krahn, 2021, Clinica chimica acta; international journal of clinical chemistry.

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

F. Puppo, N. Lévy, S. Gorokhova, 2020, bioRxiv.

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

F. Puppo, N. Lévy, S. Gorokhova, 2020, Human mutation.

Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells

N. Lévy, Nathalie Da Silva, A. De Sandre-Giovannoli, 2016, Cells.

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.

P. Tufféry, P. Ray, T. Dirami, 2013, American journal of human genetics.

Hepatitis E virus RNA‐dependent RNA polymerase is involved in RNA replication and infectious particle production

F. Cantrelle, D. Moradpour, X. Hanoulle, 2021, Hepatology.

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

N. Philip, N. Lévy, F. Leturcq, 2022, Genes.

A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases

C. Robert, A. Mégarbané, N. Lévy, 2020, Clinical genetics.

First characterization of congenital myasthenic syndrome type 5 in North Africa

A. Barakat, S. Gorokhova, M. Krahn, 2021, Molecular Biology Reports.

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

R. Wevers, N. Lévy, E. Morava, 2015, European Journal of Human Genetics.

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

A. Munnich, D. Lessel, C. Kubisch, 2023, American journal of medical genetics. Part A.

Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation.

S. Poitevin, J. Aniort, S. Burtey, 2023, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mechanisms of myostatin and activin A accumulation in chronic kidney disease.

S. Poitevin, J. Aniort, S. Burtey, 2022, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.