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Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M. Davidson G, et al. Among authors: davis m. J Neurol. 2012 Aug;259(8):1673-85. doi: 10.1007/s00415-011-6397-y. J Neurol. 2012. PMID: 22302274 Free PMC article.
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME. Feely SM, et al. Among authors: davis m. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508331 Free PMC article.
Variable phenotypes are associated with PMP22 missense mutations.
Russo M, Laurá M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM. Russo M, et al. Among authors: davis mb. Neuromuscul Disord. 2011 Feb;21(2):106-14. doi: 10.1016/j.nmd.2010.11.011. Epub 2010 Dec 30. Neuromuscul Disord. 2011. PMID: 21194947
Spinocerebellar ataxia type 11.
Giunti P, Houlden H, Gardner-Thorpe C, Worth PF, Johnson J, Hilton DA, Revesz T, Davis MB, Wood NW. Giunti P, et al. Among authors: davis mb. Handb Clin Neurol. 2012;103:521-34. doi: 10.1016/B978-0-444-51892-7.00033-4. Handb Clin Neurol. 2012. PMID: 21827911 Review. No abstract available.
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG. Fialho D, et al. Among authors: davis mb. Brain. 2007 Dec;130(Pt 12):3265-74. doi: 10.1093/brain/awm248. Epub 2007 Oct 11. Brain. 2007. PMID: 17932099
9,597 results