Kumar KR - Search Results

1

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM. Kumar KR, et al. Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7. Parkinsonism Relat Disord. 2019. PMID: 31731261 Free article.

2

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. Muscle Nerve. 2010 Mar;41(3):412-5. doi: 10.1002/mus.21610. Muscle Nerve. 2010. PMID: 20120005

3

Reduced facial nerve hyperexcitability from contralateral cerebral stroke in hemifacial spasm.

Kumar KR, Ng K. Kumar KR, et al. Mov Disord. 2010 Jul 15;25(9):1310-2. doi: 10.1002/mds.23094. Mov Disord. 2010. PMID: 20310047 No abstract available.

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. 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

Don't hold your breath: anoxic convulsions from coupled hyperventilation-underwater breath-holding.

Kumar KR, Ng K. Kumar KR, et al. Med J Aust. 2010 Jun 7;192(11):663-4. doi: 10.5694/j.1326-5377.2010.tb03673.x. Med J Aust. 2010. PMID: 20528722 No abstract available.

6

Axonal excitability in viral polyneuropathy and nucleoside neuropathy in HIV patients.

Ng K, Kumar K, Brew B, Burke D. Ng K, et al. J Neurol Neurosurg Psychiatry. 2011 Sep;82(9):978-80. doi: 10.1136/jnnp.2009.203091. Epub 2010 Jul 16. J Neurol Neurosurg Psychiatry. 2011. PMID: 20639386

7

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. Muscle Nerve. 2011 Aug;44(2):191-6. doi: 10.1002/mus.22020. Epub 2011 May 23. Muscle Nerve. 2011. PMID: 21607982

8

Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques.

Kumar KR, Sue CM, Burke D, Ng K. Kumar KR, et al. Clin Neurophysiol. 2012 Jul;123(7):1454-9. doi: 10.1016/j.clinph.2011.11.080. Epub 2011 Dec 21. Clin Neurophysiol. 2012. PMID: 22192498

9

Axonal excitability during ischemia in MELAS.

Ng K, Kumar KR, Sue C, Burke D. Ng K, et al. Among authors: kumar kr. Muscle Nerve. 2013 May;47(5):762-5. doi: 10.1002/mus.23733. Epub 2013 Mar 29. Muscle Nerve. 2013. PMID: 23553640

10

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Lohmann K, et al. Among authors: kumar kr. Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17. Ann Neurol. 2013. PMID: 23595291 Free PMC article.

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