Laing NG - Search Results

1

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG. Ravenscroft G, et al. Among authors: laing ng. Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub 2016 Sep 19. Neuromuscul Disord. 2016. PMID: 27751653

2

A splice-site mutation causing ovine McArdle's disease.

Tan P, Allen JG, Wilton SD, Akkari PA, Huxtable CR, Laing NG. Tan P, et al. Among authors: laing ng. Neuromuscul Disord. 1997 Jul;7(5):336-42. doi: 10.1016/s0960-8966(97)00062-x. Neuromuscul Disord. 1997. PMID: 9267848

3

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.

Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, Wallgren-Pettersson C, Laing NG. Tan P, et al. Among authors: laing ng. Neuromuscul Disord. 1999 Dec;9(8):573-9. doi: 10.1016/s0960-8966(99)00053-x. Neuromuscul Disord. 1999. PMID: 10619715

4

Early onset chromosome 14-linked distal myopathy (Laing).

Mastaglia FL, Phillips BA, Cala LA, Meredith C, Egli S, Akkari PA, Laing NG. Mastaglia FL, et al. Among authors: laing ng. Neuromuscul Disord. 2002 May;12(4):350-7. doi: 10.1016/s0960-8966(01)00287-5. Neuromuscul Disord. 2002. PMID: 12062252

5

The spectrum of pathology in central core disease.

Sewry CA, Müller C, Davis M, Dwyer JS, Dove J, Evans G, Schröder R, Fürst D, Helliwell T, Laing N, Quinlivan RC. Sewry CA, et al. Neuromuscul Disord. 2002 Dec;12(10):930-8. doi: 10.1016/s0960-8966(02)00135-9. Neuromuscul Disord. 2002. PMID: 12467748

6

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: laing ng. Neuromuscul Disord. 2003 Feb;13(2):151-7. doi: 10.1016/s0960-8966(02)00218-3. Neuromuscul Disord. 2003. PMID: 12565913

7

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

8

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F. Jungbluth H, et al. Among authors: laing ng. Neuromuscul Disord. 2004 Dec;14(12):785-90. doi: 10.1016/j.nmd.2004.08.006. Neuromuscul Disord. 2004. PMID: 15564033

9

Effectiveness of posthumous molecular diagnosis from a kept baby tooth.

Leonard H, Davis MR, Turbett GR, Laing NG, Bower C, Ravine D. Leonard H, et al. Among authors: laing ng. Lancet. 2005 Oct 29-Nov 4;366(9496):1584. doi: 10.1016/S0140-6736(05)67631-3. Lancet. 2005. PMID: 16257347 No abstract available.

10

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

Dye DE, Azzarelli B, Goebel HH, Laing NG. Dye DE, et al. Among authors: laing ng. Neuromuscul Disord. 2006 Jun;16(6):357-60. doi: 10.1016/j.nmd.2006.03.011. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684601

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