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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR, Laing NG. Davis MR, et al. Among authors: walsh p. Neuromuscul Disord. 2003 Feb;13(2):151-7. doi: 10.1016/s0960-8966(02)00218-3. Neuromuscul Disord. 2003. PMID: 12565913
Intraneural perineurioma.
Lee HY, Manasseh RG, Edis RH, Page R, Keith-Rokosh J, Walsh P, Song S, Laycock A, Griffiths L, Fabian VA. Lee HY, et al. Among authors: walsh p. J Clin Neurosci. 2009 Dec;16(12):1633-6. doi: 10.1016/j.jocn.2009.02.013. Epub 2009 Sep 17. J Clin Neurosci. 2009. PMID: 19766004
Neuropathological homology in true Galloway-Mowat syndrome.
Keith J, Fabian VA, Walsh P, Sinniah R, Robitaille Y. Keith J, et al. Among authors: walsh p. J Child Neurol. 2011 Apr;26(4):510-7. doi: 10.1177/0883073810383982. Epub 2011 Jan 13. J Child Neurol. 2011. PMID: 21233460
2,246 results