Waddell LB - Search Results

1

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF. Waddell LB, et al. Neuromuscul Disord. 2011 Nov;21(11):776-81. doi: 10.1016/j.nmd.2011.05.007. Epub 2011 Jun 17. Neuromuscul Disord. 2011. PMID: 21683594 Free PMC article.

2

Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Clarke NF, et al. Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3. Neuromuscul Disord. 2009. PMID: 19345583

3

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Waddell LB, et al. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15. Neuromuscul Disord. 2010. PMID: 20554445

4

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN. Clarke NF, et al. Among authors: waddell lb. Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278. Hum Mutat. 2010. PMID: 20583297

5

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, Cooper ST. Waddell LB, et al. J Neuropathol Exp Neurol. 2011 Apr;70(4):302-13. doi: 10.1097/NEN.0b013e31821350b0. J Neuropathol Exp Neurol. 2011. PMID: 21412170 Free PMC article.

6

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

Yiu EM, Klausegger A, Waddell LB, Grasern N, Lloyd L, Tran K, North KN, Bauer JW, McKelvie P, Chow CW, Ryan MM, Murrell DF. Yiu EM, et al. Among authors: waddell lb. Muscle Nerve. 2011 Jul;44(1):135-41. doi: 10.1002/mus.22076. Muscle Nerve. 2011. PMID: 21674528

7

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF. Waddell LB, et al. Muscle Nerve. 2011 Aug;44(2):280-2. doi: 10.1002/mus.22118. Muscle Nerve. 2011. PMID: 21755510

8

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Penttilä S, et al. Among authors: waddell lb. Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7. Neurology. 2012. PMID: 22402862

9

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.

Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D, Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF. Menezes MP, et al. Among authors: waddell lb. Neurology. 2012 Apr 17;78(16):1258-63. doi: 10.1212/WNL.0b013e318250d839. Epub 2012 Apr 4. Neurology. 2012. PMID: 22491857

10

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Tasca G, Odgerel Z, Monforte M, Aurino S, Clarke NF, Waddell LB, Udd B, Ricci E, Goldfarb LG. Tasca G, et al. Among authors: waddell lb. Muscle Nerve. 2012 Aug;46(2):275-82. doi: 10.1002/mus.23349. Muscle Nerve. 2012. PMID: 22806379 Free PMC article.

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