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807 results

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SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators. Nicolas G, et al. Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25. Mol Psychiatry. 2016. PMID: 26303663
How local reference panels improve imputation in French populations.
Herzig AF, Velo-Suárez L; FrEx Consortium; FranceGenRef Consortium; Dina C, Redon R, Deleuze JF, Génin E. Herzig AF, et al. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
Surgical treatment of sacral pressure injury in ambulating patients during the COVID-19 pandemic: A prospective cohort with complications analysis and elaboration of a surgical treatment protocol.
Nicolas G, Ferreira J, Valente D, Abbas L, Saliba M, Milcheski D, Junior AM, Gemperli R. Nicolas G, et al. J Plast Reconstr Aesthet Surg. 2023 Sep 15;92:207-211. doi: 10.1016/j.bjps.2023.09.021. Online ahead of print. J Plast Reconstr Aesthet Surg. 2023. PMID: 38552404
Dosimetry and pharmacokinetics of [177Lu]Lu-satoreotide tetraxetan in patients with progressive neuroendocrine tumours.
Schürrle SB, Eberlein U, Ansquer C, Beauregard JM, Durand-Gasselin L, Grønbæk H, Haug A, Hicks RJ, Lenzo NP, Navalkissoor S, Nicolas GP, Pais B, Volteau M, Wild D, McEwan A, Lassmann M. Schürrle SB, et al. Among authors: nicolas gp. Eur J Nucl Med Mol Imaging. 2024 Mar 26. doi: 10.1007/s00259-024-06682-1. Online ahead of print. Eur J Nucl Med Mol Imaging. 2024. PMID: 38528164
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: nicolas g. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
de Masfrand S, Cogné B, Nizon M, Deb W, Goldenberg A, Lecoquierre F, Nicolas G, Bournez M, Vitobello A, Mau-Them FT, le Guyader G, Bilan F, Bauer P, Zweier C, Piard J, Pasquier L, Bézieau S, Gerard B, Faivre L, Saugier-Veber P, Piton A, Isidor B. de Masfrand S, et al. Among authors: nicolas g. Eur J Med Genet. 2024 Mar 5;69:104932. doi: 10.1016/j.ejmg.2024.104932. Online ahead of print. Eur J Med Genet. 2024. PMID: 38453051 Free article.
First-in-human administration of terbium-161-labelled somatostatin receptor subtype 2 antagonist ([161Tb]Tb-DOTA-LM3) in a patient with a metastatic neuroendocrine tumour of the ileum.
Fricke J, Westerbergh F, McDougall L, Favaretto C, Christ E, Nicolas GP, Geistlich S, Borgna F, Fani M, Bernhardt P, van der Meulen NP, Müller C, Schibli R, Wild D. Fricke J, et al. Among authors: nicolas gp. Eur J Nucl Med Mol Imaging. 2024 Mar 7. doi: 10.1007/s00259-024-06641-w. Online ahead of print. Eur J Nucl Med Mol Imaging. 2024. PMID: 38448550 No abstract available.
807 results