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Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing NG, Lamont PJ, Ravenscroft G. Folland C, et al. Among authors: davis mr. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12846. doi: 10.1111/nan.12846. Epub 2022 Aug 20. Neuropathol Appl Neurobiol. 2022. PMID: 35962550
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. Neuromuscul Disord. 2003 Feb;13(2):151-7. doi: 10.1016/s0960-8966(02)00218-3. Neuromuscul Disord. 2003. PMID: 12565913
Central core disease: clinical, pathological, and genetic features.
Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA. Quinlivan RM, et al. Arch Dis Child. 2003 Dec;88(12):1051-5. doi: 10.1136/adc.88.12.1051. Arch Dis Child. 2003. PMID: 14670767 Free PMC article.
Clinical utility gene card for: Laing distal myopathy.
Lamont P, Wallefeld W, Davis M, Udd B, Laing N. Lamont P, et al. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.190. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150886 Free PMC article. No abstract available.
Clinical utility gene card for: nemaline myopathy.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Nowak KJ, et al. Among authors: davis mr. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.70. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510848 Free PMC article. No abstract available.
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG. Ravenscroft G, et al. Among authors: davis mr. Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3. Neuromuscul Disord. 2013. PMID: 23218673
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ. Clarke NF, et al. Neuromuscul Disord. 2013 May;23(5):432-6. doi: 10.1016/j.nmd.2013.02.009. Epub 2013 Mar 9. Neuromuscul Disord. 2013. PMID: 23478172 Free PMC article.
286 results