Moolman-Smook JC - Search Results

1

Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy.

Redwood CS, Moolman-Smook JC, Watkins H. Redwood CS, et al. Cardiovasc Res. 1999 Oct;44(1):20-36. doi: 10.1016/s0008-6363(99)00213-8. Cardiovasc Res. 1999. PMID: 10615387 Review.

2

Cardiac myosin binding protein C: its role in physiology and disease.

Flashman E, Redwood C, Moolman-Smook J, Watkins H. Flashman E, et al. Circ Res. 2004 May 28;94(10):1279-89. doi: 10.1161/01.RES.0000127175.21818.C2. Circ Res. 2004. PMID: 15166115 Review.

3

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.

Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H. Blair E, et al. Circ Res. 2002 Feb 22;90(3):263-9. doi: 10.1161/hh0302.104532. Circ Res. 2002. PMID: 11861413

4

Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.

Moolman-Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, Watkins H. Moolman-Smook J, et al. Circ Res. 2002 Oct 18;91(8):704-11. doi: 10.1161/01.res.0000036750.81083.83. Circ Res. 2002. PMID: 12386147

5

Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle.

Flashman E, Korkie L, Watkins H, Redwood C, Moolman-Smook JC. Flashman E, et al. FEBS Lett. 2008 Feb 6;582(3):434-8. doi: 10.1016/j.febslet.2008.01.004. Epub 2008 Jan 15. FEBS Lett. 2008. PMID: 18201573 Free article.

6

Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

Revera M, van der Merwe L, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC. Revera M, et al. Cardiovasc Res. 2008 Mar 1;77(4):687-94. doi: 10.1093/cvr/cvm075. Epub 2007 Nov 20. Cardiovasc Res. 2008. PMID: 18029407

7

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H. Andersen PS, et al. Hum Mutat. 2009 Mar;30(3):363-70. doi: 10.1002/humu.20862. Hum Mutat. 2009. PMID: 19035361

8

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. Moolman-Smook JC, et al. Am J Hum Genet. 1999 Nov;65(5):1308-20. doi: 10.1086/302623. Am J Hum Genet. 1999. PMID: 10521296 Free PMC article.

9

Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.

Revera M, Van der Merwe L, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC. Revera M, et al. Cardiovasc J Afr. 2007 May-Jun;18(3):146-53. Cardiovasc J Afr. 2007. PMID: 17612745 Free PMC article.

10

Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.

Moolman-Smook JC, Mayosi B, Brink P, Corfield VA. Moolman-Smook JC, et al. J Med Genet. 1998 Mar;35(3):253-4. doi: 10.1136/jmg.35.3.253. J Med Genet. 1998. PMID: 9541115 Free PMC article.

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