Corbett A - Search Results

1

Myotonic dystrophy and the heart: A systematic review of evaluation and management.

Lau JK, Sy RW, Corbett A, Kritharides L. Lau JK, et al. Among authors: corbett a. Int J Cardiol. 2015 Apr 1;184:600-608. doi: 10.1016/j.ijcard.2015.03.069. Epub 2015 Mar 5. Int J Cardiol. 2015. PMID: 25769007 Review.

2

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Riley LG, Waddell LB, Ghaoui R, Evesson FJ, Cummings BB, Bryen SJ, Joshi H, Wang MX, Brammah S, Kritharides L, Corbett A, MacArthur DG, Cooper ST. Riley LG, et al. Among authors: corbett a. Eur J Hum Genet. 2019 Aug;27(8):1267-1273. doi: 10.1038/s41431-019-0393-6. Epub 2019 Apr 25. Eur J Hum Genet. 2019. PMID: 31024060 Free PMC article.

3

Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature.

Sasson SC, Corbett A, McLachlan AJ, Chen R, Adelstein SA, Riminton S, Limaye S. Sasson SC, et al. Among authors: corbett a. J Med Case Rep. 2019 Nov 20;13(1):338. doi: 10.1186/s13256-019-2285-3. J Med Case Rep. 2019. PMID: 31744540 Free PMC article. Review.

4

Sarcolemmal excitability in the myotonic dystrophies.

Boland-Freitas R, Lee J, Howells J, Liang C, Corbett A, Nicholson G, Ng K. Boland-Freitas R, et al. Among authors: corbett a. Muscle Nerve. 2018 Apr;57(4):595-602. doi: 10.1002/mus.25962. Epub 2017 Sep 30. Muscle Nerve. 2018. PMID: 28881011

5

Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.

Jia FF, Drew AP, Nicholson GA, Corbett A, Kumar KR. Jia FF, et al. Among authors: corbett a. Neuromuscul Disord. 2021 Nov;31(11):1101-1112. doi: 10.1016/j.nmd.2021.09.010. Epub 2021 Oct 2. Neuromuscul Disord. 2021. PMID: 34711481 Review.

6

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: corbett a. Neurology. 2012 Apr 17;78(16):1258-63. doi: 10.1212/WNL.0b013e318250d839. Epub 2012 Apr 4. Neurology. 2012. PMID: 22491857

7

Protein metabolism in Duchenne muscular dystrophy, monoclonal and mixed skeletal muscle cultures.

Corbett AJ. Corbett AJ. Clin Exp Neurol. 1987;24:214-9. Clin Exp Neurol. 1987. PMID: 3268348

8

Is it Pompe Disease? Australian diagnostic considerations.

Tchan M, Henderson R, Kornberg A, Kairaitis K, Fuller M, Davis M, Ellaway C, Reardon K, Corbett A, Needham M, McKelvie P. Tchan M, et al. Among authors: corbett a. Neuromuscul Disord. 2020 May;30(5):389-399. doi: 10.1016/j.nmd.2020.03.007. Epub 2020 Apr 16. Neuromuscul Disord. 2020. PMID: 32418839

9

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF. Ghaoui R, et al. Among authors: corbett a. JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274. JAMA Neurol. 2015. PMID: 26436962

10

Familial colloid cyst of the third ventricle.

Aggarwal A, Corbett A, Graham J. Aggarwal A, et al. Among authors: corbett a. J Clin Neurosci. 1999 Nov;6(6):520-2. doi: 10.1016/s0967-5868(99)90016-4. J Clin Neurosci. 1999. PMID: 18639196

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