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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2008 1
2009 1
2010 3
2011 3
2012 3
2013 5
2014 3
2015 2
2016 2
2017 3
2019 2
2020 1
2021 3
2022 1
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28 results
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Page 1
Structure-Based Understanding of ABCA3 Variants.
Onnée M, Fanen P, Callebaut I, de Becdelièvre A. Onnée M, et al. Among authors: de becdelievre a. Int J Mol Sci. 2021 Sep 24;22(19):10282. doi: 10.3390/ijms221910282. Int J Mol Sci. 2021. PMID: 34638622 Free PMC article.
SCN10A variants associated with congenital Harlequin Syndrome.
Halle A, De Becdelievre A, Funalot B, Labrèze C, Morice-Picard F, Boralevi F. Halle A, et al. Among authors: de becdelievre a. Br J Dermatol. 2022 Jan 10. doi: 10.1111/bjd.21011. Online ahead of print. Br J Dermatol. 2022. PMID: 35007332 No abstract available.
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T. Deconinck N, et al. Among authors: de becdelievre a. J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46. doi: 10.1136/jnnp-2013-307245. Epub 2014 Dec 22. J Neurol Neurosurg Psychiatry. 2015. PMID: 25535305
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
Richard P, Trollet C, Stojkovic T, de Becdelievre A, Perie S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Richard P, et al. Among authors: de becdelievre a. Neurology. 2017 Jan 24;88(4):359-365. doi: 10.1212/WNL.0000000000003554. Epub 2016 Dec 23. Neurology. 2017. PMID: 28011929 Free PMC article.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Villar-Quiles RN, et al. Among authors: de becdelievre a. J Neuromuscul Dis. 2021;8(4):633-645. doi: 10.3233/JND-200577. J Neuromuscul Dis. 2021. PMID: 33749658
Interstitial lung disease reveals 48,XXYY syndrome in a child.
Gros M, Aissat A, Perez-Martin S, Abou Taam R, Funalot B, Fanen P, Epaud R, de Becdelievre A. Gros M, et al. Among authors: de becdelievre a. Acta Paediatr. 2020 May;109(5):1060-1061. doi: 10.1111/apa.15090. Epub 2019 Dec 4. Acta Paediatr. 2020. PMID: 31721284 No abstract available.
Diaphragmatic dysfunction in Collagen VI myopathies.
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B. Quijano-Roy S, et al. Among authors: de becdelievre a. Neuromuscul Disord. 2014 Feb;24(2):125-33. doi: 10.1016/j.nmd.2013.11.002. Epub 2013 Nov 16. Neuromuscul Disord. 2014. PMID: 24314752
COMMD1-mediated ubiquitination regulates CFTR trafficking.
Drévillon L, Tanguy G, Hinzpeter A, Arous N, de Becdelièvre A, Aissat A, Tarze A, Goossens M, Fanen P. Drévillon L, et al. Among authors: de becdelievre a. PLoS One. 2011 Mar 31;6(3):e18334. doi: 10.1371/journal.pone.0018334. PLoS One. 2011. PMID: 21483833 Free PMC article.
28 results