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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: munnich a. 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.
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. Among authors: munnich a. 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
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: munnich a. Hum Mutat. 2010 Jul;31(7):E1564-73. doi: 10.1002/humu.21282. Hum Mutat. 2010. PMID: 20583302 Free article.
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Hanein S, Garcia M, Fares-Taie L, Serre V, De Keyzer Y, Delaveau T, Perrault I, Delphin N, Gerber S, Schmitt A, Masse JM, Munnich A, Kaplan J, Devaux F, Rozet JM. Hanein S, et al. Among authors: munnich a. Biochim Biophys Acta. 2013 Jun;1830(6):3719-33. doi: 10.1016/j.bbagen.2013.02.025. Epub 2013 Mar 13. Biochim Biophys Acta. 2013. PMID: 23500070
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. Among authors: munnich a. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941
1,064 results