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Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM, Noguchi S. Lee JM, et al. Among authors: noguchi s. Int J Mol Sci. 2016 Nov 22;17(11):1952. doi: 10.3390/ijms17111952. Int J Mol Sci. 2016. PMID: 27879676 Free PMC article. Review.
Congenital fiber type disproportion myopathy caused by LMNA mutations.
Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK. Kajino S, et al. Among authors: noguchi s. J Neurol Sci. 2014 May 15;340(1-2):94-8. doi: 10.1016/j.jns.2014.02.036. Epub 2014 Mar 5. J Neurol Sci. 2014. PMID: 24642510
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I. Endo Y, et al. Among authors: noguchi s. Hum Mol Genet. 2015 Feb 1;24(3):637-48. doi: 10.1093/hmg/ddu477. Epub 2014 Sep 16. Hum Mol Genet. 2015. PMID: 25227914
Muscle from a 20-week-old myotubular myopathy fetus is not myotubular.
Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I. Hamanaka K, et al. Among authors: noguchi s. Neuromuscul Disord. 2016 Mar;26(3):234-5. doi: 10.1016/j.nmd.2015.11.010. Epub 2015 Dec 3. Neuromuscul Disord. 2016. PMID: 26898940 No abstract available.
1,914 results