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Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.
Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, Touchard G, Goujon JM, Lacombe C, Lozeron P, Adams D, Lacroix C, Maisonobe T, Planté-Bordeneuve V, Vrana JA, Theis JD, Giorgetti S, Porcari R, Ricagno S, Bolognesi M, Stoppini M, Delpech M, Pepys MB, Hawkins PN, Bellotti V. Valleix S, et al. Among authors: nedelec b. N Engl J Med. 2012 Jun 14;366(24):2276-83. doi: 10.1056/NEJMoa1201356. N Engl J Med. 2012. PMID: 22693999 Free article.
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.
Valleix S, Verona G, Jourde-Chiche N, Nédelec B, Mangione PP, Bridoux F, Mangé A, Dogan A, Goujon JM, Lhomme M, Dauteuille C, Chabert M, Porcari R, Waudby CA, Relini A, Talmud PJ, Kovrov O, Olivecrona G, Stoppini M, Christodoulou J, Hawkins PN, Grateau G, Delpech M, Kontush A, Gillmore JD, Kalopissis AD, Bellotti V. Valleix S, et al. Among authors: nedelec b. Nat Commun. 2016 Jan 21;7:10353. doi: 10.1038/ncomms10353. Nat Commun. 2016. PMID: 26790392 Free PMC article.
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.
Garnier C, Briki F, Nedelec B, Le Pogamp P, Dogan A, Rioux-Leclercq N, Goude R, Beugnet C, Martin L, Delpech M, Bridoux F, Grateau G, Doucet J, Derreumaux P, Valleix S. Garnier C, et al. Among authors: nedelec b. Blood. 2017 Dec 21;130(25):2799-2807. doi: 10.1182/blood-2017-07-796185. Epub 2017 Oct 31. Blood. 2017. PMID: 29089309 Free PMC article.
83 results