Laing NG - Search Results

1

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: laing ng. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12846. doi: 10.1111/nan.12846. Epub 2022 Aug 20. Neuropathol Appl Neurobiol. 2022. PMID: 35962550

2

Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

Laing NG, Layton MG, Johnsen RD, Chandler DC, Mears ME, Goldblatt J, Kakulas BA. Laing NG, et al. Am J Med Genet. 1992 Mar 1;42(5):688-92. doi: 10.1002/ajmg.1320420512. Am J Med Genet. 1992. PMID: 1632439

3

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.

Wilton SD, Johnsen RD, Pedretti JR, Laing NG. Wilton SD, et al. Among authors: laing ng. Am J Med Genet. 1993 Jun 15;46(5):563-9. doi: 10.1002/ajmg.1320460521. Am J Med Genet. 1993. PMID: 8322822

4

Normal expression of adhalin and merosin in ovine congenital progressive muscular dystrophy.

Johnsen RD, Laing NG, Huxtable CR, Kakulas BA. Johnsen RD, et al. Among authors: laing ng. Aust Vet J. 1997 Mar;75(3):215-6. doi: 10.1111/j.1751-0813.1997.tb10070.x. Aust Vet J. 1997. PMID: 9088516 No abstract available.

5

The contribution of molecular genetics in the diagnosis and management of neuromuscular disorders.

Kakulas BA, Laing NG, Johnsen RD. Kakulas BA, et al. Among authors: laing ng. Scand J Rehabil Med Suppl. 1999;39:5-22. doi: 10.1080/003655098443850. Scand J Rehabil Med Suppl. 1999. PMID: 10370969 Review.

6

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

7

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG. Nowak KJ, et al. Among authors: laing ng. Neuromuscul Disord. 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2. Neuromuscul Disord. 2000. PMID: 10714584

8

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

9

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

Lamont PJ, Thorburn DR, Fabian V, Vajsar J, Hawkins C, Saada Reisch A, Durling H, Laing NG, Nevo Y. Lamont PJ, et al. Among authors: laing ng. Neuropediatrics. 2004 Oct;35(5):302-6. doi: 10.1055/s-2004-821243. Neuropediatrics. 2004. PMID: 15534765

10

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG. Lamont PJ, et al. Among authors: laing ng. J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. doi: 10.1136/jnnp.2005.073825. Epub 2005 Aug 15. J Neurol Neurosurg Psychiatry. 2006. PMID: 16103042 Free PMC article.

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