Da Silva N - Search Results

1

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

Abaji M, Gorokhova S, Da Silva N, Busa T, Grelet M, Missirian C, Sigaudy S, Philip N, Leturcq F, Lévy N, Krahn M, Bartoli M. Abaji M, et al. Among authors: da silva n. Genes (Basel). 2022 Jul 19;13(7):1277. doi: 10.3390/genes13071277. Genes (Basel). 2022. PMID: 35886062 Free PMC article.

2

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

Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: da silva n. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.

3

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.

Harhouri K, Navarro C, Baquerre C, Da Silva N, Bartoli C, Casey F, Mawuse GK, Doubaj Y, Lévy N, De Sandre-Giovannoli A. Harhouri K, et al. Among authors: da silva n. Cells. 2016 Jul 11;5(3):31. doi: 10.3390/cells5030031. Cells. 2016. PMID: 27409638 Free PMC article.

4

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

Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. Dionnet E, et al. Among authors: da silva n. Hum Mutat. 2020 Oct;41(10):1797-1810. doi: 10.1002/humu.24083. Epub 2020 Jul 27. Hum Mutat. 2020. PMID: 32668095

5

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

Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy N, Megarbané A, Delague V, Bartoli M. Salvi A, et al. Among authors: da silva n. Clin Genet. 2021 Jul;100(1):84-89. doi: 10.1111/cge.13959. Epub 2021 Mar 29. Clin Genet. 2021. PMID: 33733462

6

First characterization of congenital myasthenic syndrome type 5 in North Africa.

Khaoula R, Cerino M, Da Silva N, Delague V, Nahili H, Kriouile Y, Gorokhova S, Bartoli M, Saïle R, Barakat A, Krahn M. Khaoula R, et al. Among authors: da silva n. Mol Biol Rep. 2021 Oct;48(10):6999-7006. doi: 10.1007/s11033-021-06530-7. Epub 2021 Sep 22. Mol Biol Rep. 2021. PMID: 34553317 Free article.

7

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

Rochdi K, Cerino M, Da Silva N, Delague V, Bouzidi A, Nahili H, Zouiri G, Kriouile Y, Gorokhova S, Bartoli M, Saïle R, Barakat A, Krahn M. Rochdi K, et al. Among authors: da silva n. Clin Chim Acta. 2022 Jan 1;524:51-58. doi: 10.1016/j.cca.2021.11.020. Epub 2021 Nov 28. Clin Chim Acta. 2022. PMID: 34852264

8

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.

Bos R, Rihan K, Quintana P, El-Bazzal L, Bernard-Marissal N, Da Silva N, Jabbour R, Mégarbané A, Bartoli M, Brocard F, Delague V. Bos R, et al. Among authors: da silva n. Neurobiol Dis. 2022 Mar;164:105609. doi: 10.1016/j.nbd.2021.105609. Epub 2022 Jan 3. Neurobiol Dis. 2022. PMID: 34990802 Free article.

9

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

Bataille S, Dou L, Bartoli M, Sallée M, Aniort J, Ferkak B, Chermiti R, McKay N, Da Silva N, Burtey S, Poitevin S. Bataille S, et al. Among authors: da silva n. Nephrol Dial Transplant. 2022 Jun 23;37(7):1249-1260. doi: 10.1093/ndt/gfac136. Nephrol Dial Transplant. 2022. PMID: 35333341

10

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.

Ballouhey O, Chapoton M, Alary B, Courrier S, Da Silva N, Krahn M, Lévy N, Weisleder N, Bartoli M. Ballouhey O, et al. Among authors: da silva n. Biomedicines. 2023 May 13;11(5):1438. doi: 10.3390/biomedicines11051438. Biomedicines. 2023. PMID: 37239109 Free PMC article.

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