Sue CM - Search Results

1

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG. Cabrera-Serrano M, et al. Among authors: sue cm. Brain. 2015 Apr;138(Pt 4):836-44. doi: 10.1093/brain/awv013. Epub 2015 Feb 12. Brain. 2015. PMID: 25681410

2

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.

Sue CM, Mitchell P, Crimmins DS, Moshegov C, Byrne E, Morris JG. Sue CM, et al. Neurology. 1997 Oct;49(4):1013-7. doi: 10.1212/wnl.49.4.1013. Neurology. 1997. PMID: 9339682

3

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Kumar KR, Ng K, Vandebona H, Davis MR, Sue CM. Kumar KR, et al. Among authors: sue cm. Muscle Nerve. 2010 Mar;41(3):412-5. doi: 10.1002/mus.21610. Muscle Nerve. 2010. PMID: 20120005

4

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.

Kumar KR, Needham M, Mina K, Davis M, Brewer J, Staples C, Ng K, Sue CM, Mastaglia FL. Kumar KR, et al. Among authors: sue cm. Neuromuscul Disord. 2010 May;20(5):330-4. doi: 10.1016/j.nmd.2010.03.002. Epub 2010 Mar 23. Neuromuscul Disord. 2010. PMID: 20335036

5

Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD).

Kumar KR, Liang C, Needham M, Burke D, Sue CM, Ng K. Kumar KR, et al. Among authors: sue cm. Muscle Nerve. 2011 Aug;44(2):191-6. doi: 10.1002/mus.22020. Epub 2011 May 23. Muscle Nerve. 2011. PMID: 21607982

6

POLG mutations in Australian patients with mitochondrial disease.

Woodbridge P, Liang C, Davis RL, Vandebona H, Sue CM. Woodbridge P, et al. Among authors: sue cm. Intern Med J. 2013 Feb;43(2):150-6. doi: 10.1111/j.1445-5994.2012.02847.x. Intern Med J. 2013. PMID: 22647225

7

SPAST mutations in Australian patients with hereditary spastic paraplegia.

Vandebona H, Kerr NP, Liang C, Sue CM. Vandebona H, et al. Among authors: sue cm. Intern Med J. 2012 Dec;42(12):1342-7. doi: 10.1111/j.1445-5994.2012.02941.x. Intern Med J. 2012. PMID: 23252998

8

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

Kumar KR, Blair NF, Vandebona H, Liang C, Ng K, Sharpe DM, Grünewald A, Gölnitz U, Saviouk V, Rolfs A, Klein C, Sue CM. Kumar KR, et al. Among authors: sue cm. J Neurol. 2013 Oct;260(10):2516-22. doi: 10.1007/s00415-013-7008-x. Epub 2013 Jun 28. J Neurol. 2013. PMID: 23812641

9

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.

Davis RL, Liang C, Edema-Hildebrand F, Riley C, Needham M, Sue CM. Davis RL, et al. Among authors: sue cm. Neurology. 2013 Nov 19;81(21):1819-26. doi: 10.1212/01.wnl.0000436068.43384.ef. Epub 2013 Oct 18. Neurology. 2013. PMID: 24142477

10

The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm.

Liang C, Ahmad K, Sue CM. Liang C, et al. Among authors: sue cm. Biochim Biophys Acta. 2014 Apr;1840(4):1360-7. doi: 10.1016/j.bbagen.2013.10.040. Epub 2013 Nov 13. Biochim Biophys Acta. 2014. PMID: 24239706 Free article. Review.

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