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De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.
Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, Beuvin M, Viou M, Manéré L, Claeys KG, Fardeau M, Lunardi J, Voit T, Romero NB. Hernandez-Lain A, et al. Among authors: romero nb. Eur J Med Genet. 2011 Jan-Feb;54(1):29-33. doi: 10.1016/j.ejmg.2010.09.009. Epub 2010 Oct 1. Eur J Med Genet. 2011. PMID: 20888934
Morphological studies of skeletal muscle in lactic acidosis.
Romero NB, Lombès A, Touati G, Rigal O, Frachon P, Cheval MA, Giraud M, Possekel S, Fardeau M, Ogier de Baulny H. Romero NB, et al. J Inherit Metab Dis. 1996;19(4):528-34. doi: 10.1007/BF01799113. J Inherit Metab Dis. 1996. PMID: 8884576 Review.
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Jeanpierre M, Carrié A, Piccolo F, Leturcq F, Azibi K, De Toma C, Beldjord C, Merlini L, Voit T, Romero N, Sunada Y, Tomé FM, Fardeau M, Campbell KP, Kaplan JC. Jeanpierre M, et al. Neuromuscul Disord. 1996 Dec;6(6):463-5. doi: 10.1016/s0960-8966(96)00394-x. Neuromuscul Disord. 1996. PMID: 9027856 Review. No abstract available.
307 results