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Items: 11

1.

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.

Duff RM, Shearwood AM, Ermer J, Rossetti G, Gooding R, Richman TR, Balasubramaniam S, Thorburn DR, Rackham O, Lamont PJ, Filipovska A.

Mitochondrion. 2015 Nov;25:113-9. doi: 10.1016/j.mito.2015.10.008. Epub 2015 Oct 30.

2.

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

Ong RW, AlSaman A, Selcen D, Arabshahi A, Yau KS, Ravenscroft G, Duff RM, Atkinson V, Allcock RJ, Laing NG.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1058-60. doi: 10.1136/jnnp-2014-307608. Epub 2014 Mar 7. No abstract available.

PMID:
24610938
3.

A molecular comparison of microbial communities in bronchiectasis and cystic fibrosis.

Duff RM, Simmonds NJ, Davies JC, Wilson R, Alton EW, Pantelidis P, Cox MJ, Cookson WO, Bilton D, Moffatt MF.

Eur Respir J. 2013 Apr;41(4):991-3. doi: 10.1183/09031936.00052712. No abstract available.

4.

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.

Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.

PMID:
23218673
5.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG.

Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.

6.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG.

Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Erratum in: Am J Hum Genet. 2011 Jan 7;88(1):122.

7.

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

Laing NG, Ceuterick-de Groote C, Dye DE, Liyanage K, Duff RM, Dubois B, Robberecht W, Sciot R, Martin JJ, Goebel HH.

Neurology. 2005 Feb 8;64(3):527-9.

PMID:
15699387
8.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG.

Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20.

9.

Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy.

Fletcher S, Ly T, Duff RM, McC Howell J, Wilton SD.

Neuromuscul Disord. 2001 Apr;11(3):239-43.

PMID:
11297938
10.

Effect of soil loading on dermal absorption efficiency from contaminated soils.

Duff RM, Kissel JC.

J Toxicol Environ Health. 1996 May;48(1):93-106.

PMID:
8637061
11.

Air pellet gun injury.

Waters D, Broghammer B, Duff RM.

Iowa Med. 1995 Aug;85(8):331-2. No abstract available.

PMID:
7558746

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