Kumar KR - Search Results

1

Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present.

Qiu J, Kumar KR, Watson E, Ahmad K, Sue CM, Hayes MW. Qiu J, et al. Among authors: kumar kr. J Mov Disord. 2021 May;14(2):157-160. doi: 10.14802/jmd.20159. Epub 2021 May 26. J Mov Disord. 2021. PMID: 34062649 Free PMC 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

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

4

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

5

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

6

Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations.

Schmidt A, Kumar KR, Redyk K, Grünewald A, Leben M, Münchau A, Sue CM, Hagenah J, Hartmann H, Lohmann K, Christen HJ, Klein C. Schmidt A, et al. Among authors: kumar kr. Arch Neurol. 2012 May;69(5):668-70. doi: 10.1001/archneurol.2012.187. Arch Neurol. 2012. PMID: 22782515 No abstract available.

7

Frequency of the D620N mutation in VPS35 in Parkinson disease.

Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostić VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K. Kumar KR, et al. Arch Neurol. 2012 Oct;69(10):1360-4. doi: 10.1001/archneurol.2011.3367. Arch Neurol. 2012. PMID: 22801713

8

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

9

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.

10

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. J Neurol. 2013 Oct;260(10):2516-22. doi: 10.1007/s00415-013-7008-x. Epub 2013 Jun 28. J Neurol. 2013. PMID: 23812641

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