Kumar KR - Search Results

1

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.

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

Genetics of Parkinson's disease.

Kumar KR, Djarmati-Westenberger A, Grünewald A. Kumar KR, et al. Semin Neurol. 2011 Nov;31(5):433-40. doi: 10.1055/s-0031-1299782. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266881 Review.

7

Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease.

Kasten M, Kertelge L, Tadic V, Brüggemann N, Schmidt A, van der Vegt J, Siebner H, Buhmann C, Lencer R, Kumar KR, Lohmann K, Hagenah J, Klein C. Kasten M, et al. Among authors: kumar kr. Mov Disord. 2012 May;27(6):754-9. doi: 10.1002/mds.24999. Epub 2012 May 1. Mov Disord. 2012. PMID: 22550041

8

Commentary for "Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy".

Kumar KR, Klein C. Kumar KR, et al. Mov Disord. 2014 Jun;29(7):E1-2. doi: 10.1002/mds.25089. Epub 2012 Jul 2. Mov Disord. 2014. PMID: 22753322 No abstract available.

9

Genetics of Parkinson disease and other movement disorders.

Kumar KR, Lohmann K, Klein C. Kumar KR, et al. Curr Opin Neurol. 2012 Aug;25(4):466-74. doi: 10.1097/WCO.0b013e3283547627. Curr Opin Neurol. 2012. PMID: 22772876 Review.

10

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

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