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A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P. Mamoune A, et al. Among authors: romero n. PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25392908 Free PMC article.
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
Claeys KG, Pellissier JF, Garcia-Bragado F, Weis J, Urtizberea A, Poza JJ, Cobo AM, Stoltenburg G, Figarella-Branger D, Willems PJ, Depuydt CE, Kleiner W, Pouget J, Piraud M, Brochier G, Romero NB, Fardeau M, Goebel HH, Bönnemann CG, Voit T, Eymard B, Laforêt P. Claeys KG, et al. Neuromuscul Disord. 2010 Nov;20(11):701-8. doi: 10.1016/j.nmd.2010.06.006. Epub 2010 Jul 15. Neuromuscul Disord. 2010. PMID: 20637616
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. J Inherit Metab Dis. 2012 Nov;35(6):1119-28. doi: 10.1007/s10545-012-9461-6. Epub 2012 Apr 6. J Inherit Metab Dis. 2012. PMID: 22481384
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.
Michot C, Mamoune A, Vamecq J, Viou MT, Hsieh LS, Testet E, Lainé J, Hubert L, Dessein AF, Fontaine M, Ottolenghi C, Fouillen L, Nadra K, Blanc E, Bastin J, Candon S, Pende M, Munnich A, Smahi A, Djouadi F, Carman GM, Romero N, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: romero n. Biochim Biophys Acta. 2013 Dec;1832(12):2103-14. doi: 10.1016/j.bbadis.2013.07.021. Epub 2013 Aug 6. Biochim Biophys Acta. 2013. PMID: 23928362 Free PMC article.
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB. Malfatti E, et al. Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44. Acta Neuropathol Commun. 2014. PMID: 24725366 Free PMC article.
Acute rhabdomyolysis and inflammation.
Hamel Y, Mamoune A, Mauvais FX, Habarou F, Lallement L, Romero NB, Ottolenghi C, de Lonlay P. Hamel Y, et al. J Inherit Metab Dis. 2015 Jul;38(4):621-8. doi: 10.1007/s10545-015-9827-7. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778939 Review.
574 results