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Year Number of Results
2002 1
2003 2
2004 2
2005 1
2006 1
2007 1
2011 1
2012 1
2013 1
2014 2
2015 2
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2017 4
2018 7
2019 3
2020 5
2021 9
2022 7
2023 9
2024 2

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Page 1
[SORD-related hereditary neuropathies].
Fernández-Eulate G, Bruneel A, Stojkovic T. Fernández-Eulate G, et al. Among authors: bruneel a. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:30-31. doi: 10.1051/medsci/2021188. Epub 2021 Dec 8. Med Sci (Paris). 2021. PMID: 34878391 Free article. French.
CDG biochemical screening: Where do we stand?
Bruneel A, Cholet S, Tran NT, Mai TD, Fenaille F. Bruneel A, et al. Biochim Biophys Acta Gen Subj. 2020 Oct;1864(10):129652. doi: 10.1016/j.bbagen.2020.129652. Epub 2020 Jun 5. Biochim Biophys Acta Gen Subj. 2020. PMID: 32512173 Review.
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F. Kauskot A, et al. Among authors: bruneel a. J Thromb Haemost. 2023 Nov;21(11):3268-3278. doi: 10.1016/j.jtha.2023.05.007. Epub 2023 May 18. J Thromb Haemost. 2023. PMID: 37207862
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N, Fernández-Eulate G, Pegat A, Théaudin M, Guieu R, Ripellino P, Devedjian M, Mace P, Masingue M, Léonard-Louis S, Petiot P, Roche P, Bernard E, Bouhour F, Good JM, Verschueren A, Grapperon AM, Salort E, Grosset A, Chanson JB, Nadaj-Pakleza A, Bédat-Millet AL, Choumert A, Barnier A, Hamdi G, Lesca G, Prieur F, Bruneel A, Latour P, Stojkovic T, Attarian S, Bonello-Palot N. Pons N, et al. Among authors: bruneel a. Eur J Neurol. 2023 Jul;30(7):2001-2011. doi: 10.1111/ene.15793. Epub 2023 Apr 4. Eur J Neurol. 2023. PMID: 36943151
High CDT without clinical context: Beware of the variant.
Lebredonchel E, Raynor A, Bruneel A, Peoc'h K, Klein A. Lebredonchel E, et al. Among authors: bruneel a. Clin Chim Acta. 2023 Apr 1;544:117333. doi: 10.1016/j.cca.2023.117333. Epub 2023 Apr 6. Clin Chim Acta. 2023. PMID: 37030568
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T. Čechová A, et al. Among authors: bruneel a. J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21. J Inherit Metab Dis. 2020. PMID: 32266963 Free PMC article. Review.
Increased carbohydrate deficient transferrin: Whisky or candy?
Giguet B, Bruneel A, Vuillaumier Barrot S, Moirand R, Bardou Jacquet E. Giguet B, et al. Among authors: bruneel a. JHEP Rep. 2022 Apr 20;4(7):100494. doi: 10.1016/j.jhepr.2022.100494. eCollection 2022 Jul. JHEP Rep. 2022. PMID: 35647502 Free PMC article. No abstract available.
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F. Durin Z, et al. Among authors: bruneel a. Transl Res. 2024 Apr;266:57-67. doi: 10.1016/j.trsl.2023.11.005. Epub 2023 Nov 25. Transl Res. 2024. PMID: 38013006 Free article.
54 results