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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: lardennois c. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.
Lagoutte-Renosi J, Ségalas-Milazzo I, Crahes M, Renosi F, Menu-Bouaouiche L, Torre S, Lardennois C, Rio M, Marret S, Brasse-Lagnel C, Laquerrière A, Bekri S. Lagoutte-Renosi J, et al. Among authors: lardennois c. JIMD Rep. 2015 Oct 17;28:1-10. doi: 10.1007/8904_2015_499. Online ahead of print. JIMD Rep. 2015. PMID: 26475292 Free PMC article.
Congenital rubella with bilateral cataract detected at 5 weeks.
Lardennois C, Radi-Bencteux S, Trestard L, Marret S, Grangeot-Keros L, Buffet-Janvresse C. Lardennois C, et al. Acta Paediatr. 2004 Nov;93(11):1550. doi: 10.1080/08035250410033907. Acta Paediatr. 2004. PMID: 15513590 No abstract available.
Prenatal revelation of Niemann-Pick disease type C in siblings.
Moreno R, Lardennois C, Drouin-Garraud V, Verspyck E, Marret S, Laquerrière A. Moreno R, et al. Among authors: lardennois c. Acta Paediatr. 2008 Aug;97(8):1136-9. doi: 10.1111/j.1651-2227.2008.00829.x. Epub 2008 Jun 28. Acta Paediatr. 2008. PMID: 18554276
Fetal and neonatal cerebral infarcts.
Marret S, Lardennois C, Mercier A, Radi S, Michel C, Vanhulle C, Charollais A, Gressens P. Marret S, et al. Among authors: lardennois c. Biol Neonate. 2001;79(3-4):236-40. doi: 10.1159/000047098. Biol Neonate. 2001. PMID: 11275658 Review.
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