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A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J. Echaniz-Laguna A, et al. Among authors: edelweiss e. Ann Neurol. 2020 Aug;88(2):274-282. doi: 10.1002/ana.25771. Epub 2020 Jun 3. Ann Neurol. 2020. PMID: 32386344
BIN1 modulation in vivo rescues dynamin-related myopathy.
Lionello VM, Kretz C, Edelweiss E, Crucifix C, Gómez-Oca R, Messaddeq N, Buono S, Koebel P, Massana Muñoz X, Diedhiou N, Cowling BS, Bitoun M, Laporte J. Lionello VM, et al. Among authors: edelweiss e. Proc Natl Acad Sci U S A. 2022 Mar 1;119(9):e2109576119. doi: 10.1073/pnas.2109576119. Proc Natl Acad Sci U S A. 2022. PMID: 35217605 Free PMC article.
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Gómez-Oca R, Edelweiss E, Djeddi S, Gerbier M, Massana-Muñoz X, Oulad-Abdelghani M, Crucifix C, Spiegelhalter C, Messaddeq N, Poussin-Courmontagne P, Koebel P, Cowling BS, Laporte J. Gómez-Oca R, et al. Among authors: edelweiss e. Nat Commun. 2022 Nov 11;13(1):6849. doi: 10.1038/s41467-022-34490-4. Nat Commun. 2022. PMID: 36369230 Free PMC article.
Identification and characterization of the Onchocerca volvulus Excretory Secretory Product Ov28CRP, a putative GM2 activator protein.
Njume FN, Ghogomu SM, Shey RA, Gainkam LOT, Poelvoorde P, Humblet P, Kamgno J, Robert A, Mutesa L, Lelubre C, Edelweiss E, Poterszman A, Anheuser S, Vanhamme L, Souopgui J. Njume FN, et al. Among authors: edelweiss e. PLoS Negl Trop Dis. 2019 Jul 22;13(7):e0007591. doi: 10.1371/journal.pntd.0007591. eCollection 2019 Jul. PLoS Negl Trop Dis. 2019. PMID: 31329585 Free PMC article.
Structure-based mechanism of cysteinyl leukotriene receptor inhibition by antiasthmatic drugs.
Luginina A, Gusach A, Marin E, Mishin A, Brouillette R, Popov P, Shiriaeva A, Besserer-Offroy É, Longpré JM, Lyapina E, Ishchenko A, Patel N, Polovinkin V, Safronova N, Bogorodskiy A, Edelweiss E, Hu H, Weierstall U, Liu W, Batyuk A, Gordeliy V, Han GW, Sarret P, Katritch V, Borshchevskiy V, Cherezov V. Luginina A, et al. Among authors: edelweiss e. Sci Adv. 2019 Oct 9;5(10):eaax2518. doi: 10.1126/sciadv.aax2518. eCollection 2019 Oct. Sci Adv. 2019. PMID: 31633023 Free PMC article.
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