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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: lory p. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683120 Free PMC article.
Voltage-gated calcium channels in genetic diseases.
Bidaud I, Mezghrani A, Swayne LA, Monteil A, Lory P. Bidaud I, et al. Among authors: lory p. Biochim Biophys Acta. 2006 Nov;1763(11):1169-74. doi: 10.1016/j.bbamcr.2006.08.049. Epub 2006 Sep 5. Biochim Biophys Acta. 2006. PMID: 17034879 Free article. Review.
[Calcium channelopathies: the current challenges].
Lory P, Bidaud I, Mezghrani A, Monteil A. Lory P, et al. Med Sci (Paris). 2006 Dec;22(12):1028-31. doi: 10.1051/medsci/200622121028. Med Sci (Paris). 2006. PMID: 17156720 Free article. French. No abstract available.
131 results