Dr Kishore Kumar

Clinical Senior Lecturer
Medicine, Northern Clinical School

Member of the Brain and Mind Centre


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Current research students

Project title Research student
Clinical Studies in Hereditary Spastic Paraplegia Sue-faye SIOW

Selected grants

2016

  • Transforming the Diagnostic Paradigm for Hereditary Spastic Paraplegia using Whole Genome Sequencing; Kumar K; Sydney Medical School/Kickstart Grant.

Selected publications

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Journals

  • Kumar, K., Wali, G., Davis, R., Mallawaarachchi, A., Palmer, E., Gayevskiy, V., Minoche, A., Veivers, D., Dinger, M., Mackay-Sim, A., et al (2018). Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms. Molecular Genetics and Metabolism Reports, 16, 46-51. [More Information]
  • Siow, S., Kumar, K. (2017). New gene implicated in early-onset generalized dystonia: Lysine-specific methyltransferase 2B (KMT2B). Movement Disorders, 32(3), 395. [More Information]
  • Vulinovic, F., Schaake, S., Domingo, A., Kumar, K., Defazio, G., Mir, P., Simonyan, K., Ozelius, L., Bruggemann, N., Chung, S., et al (2017). Screening study of TUBB4A in isolated dystonia. Parkinsonism and Related Disorders, 41, 118-120. [More Information]
  • Massey, J., Kumar, K., Ng, K., Yun, J., Fernando, S. (2017). Skeletal myositis as the sole feature of relapsing drug reaction with eosinophilia and systemic symptoms syndrome. Annals of Allergy, Asthma, & Immunology, 118(6), 726-748. [More Information]
  • Kumar, K., Wali, G., Kamate, M., Wali, G., Minoche, A., Puttick, C., Pinese, M., Gayevskiy, V., Dinger, M., Roscioli, T., Sue, C., et al (2016). Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. Neurogenetics, 17(4), 265-270. [More Information]
  • Geevasinga, N., Menon, P., Sue, C., Kumar, K., Ng, K., Yiannikas, C., Kiernan, M., Vucic, S. (2015). Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia. European Journal of Neurology, 22(5), 826-831. [More Information]
  • Kumar, K. (2015). Mutations in Hippocalcin and Autosomal Recessive Dystonia: A Role for Perturbed Calcium Signaling. Movement Disorders, 30(7), 911-911. [More Information]
  • Kumar, K., Vulinovic, F., Lohmann, K., Park, J., Schaake, S., Sue, C., Klein, C. (2015). Mutations in TUBB4A and spastic paraplegia. Movement Disorders, 30(13), 1857-1858. [More Information]
  • Kresojevic, N., Jankovic, M., Petrovic, I., Kumar, K., Dragasevic, N., Dobricic, V., Novakovic, I., Svetel, M., Klein, C., Pekmezovic, T., et al (2015). Presenting symptoms of GBA-related Parkinson's disease. Parkinsonism and Related Disorders, 21(7), 804-807. [More Information]
  • Kumar, K. (2015). Targeting glucocerebrosidase: Reduced enzymatic activity and Parkinson's disease. Movement Disorders, 30(12), 1620-1620. [More Information]
  • Ahmad, K., Kumar, K. (2014). "Peering at the tip of the nose" As a sign of thalamic haemorrhage. Neuro-Ophthalmology, 38(1), 21-23. [More Information]
  • Hafner, J., Kumar, K., Mulligan, S., Ng, K. (2014). Multifocal central nervous system demyelination and Lhermitte's phenomenon secondary to combination chemotherapy for chronic lymphocytic leukaemia. Journal of the Neurological Sciences, 338(1-2), 218-219. [More Information]
  • Kumar, K., Lohmann, K., Masuho, I., Miyamoto, R., Ferbert, A., Lohnau, T., Kasten, M., Hagenah, J., Bruggemann, N., Sue, C., et al (2014). Mutations in GNAL: A Novel Cause of Craniocervical Dystonia. JAMA Neurology, 71(4), 490-494. [More Information]
  • Arif, B., Kumar, K., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A., et al (2013). A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping. JAMA Neurology, 70(6), 783-787. [More Information]
  • Ng, K., Kumar, K., Sue, C., Burke, D. (2013). Axonal excitability during ischemia in MELAS. Muscle and Nerve, 47(5), 762-765. [More Information]
  • Kumar, K., Ramirez, A., Gobel, A., Kresojevic, N., Svetel, M., Lohmann, K., Sue, C., Rolfs, A., Mazzulli, J., Alcalay, R., et al (2013). Glucocerebrosidase mutations in a Serbian Parkinson's disease population. European Journal of Neurology, 20(2), 402-405. [More Information]
  • Kumar, K., Blair, N., Vandebona, H., Liang, C., Ng, K., Sharpe, D., Grünewald, A., Gölnitz, U., Saviouk, V., Rolfs, A., Sue, C., et al (2013). Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. Journal of Neurology, 260(10), 2516-2522. [More Information]
  • Lohmann, K., Wilcox, R., Winkler, S., Ramirez, A., Rakovic, A., Park, J., Arns, B., Lohnau, T., Groen, J., Kasten, M., Kumar, K., Sue, C., et al (2013). Whispering Dysphonia (DYT4 dystonia) Is Caused by a Mutation in the TUBB4 Gene. Annals of Neurology, 73(4), 537-545. [More Information]
  • Kasten, M., Kertelge, L., Tadic, V., Bruggemann, N., Schmidt, A., Van der Vegt, J., Siebner, H., Buhmann, C., Lencer, R., Kumar, K., et al (2012). Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease. Movement Disorders, 27(6), 754-759. [More Information]
  • Kumar, K., Weissbach, A., Heldmann, M., Kasten, M., Tunc, S., Sue, C., Svetel, M., Kostic, V., Segura-Aguilar, J., Ramirez, A., et al (2012). Frequency of the D620N mutation in VPS35 in Parkinson disease. JAMA Neurology, 69(10), 1360-1364. [More Information]
  • Kumar, K., Lohmann, K., Klein, C. (2012). Genetics of Parkinson disease and other movement disorders. Current Opinion In Neurology, 25(4), 466-474. [More Information]
  • Kumar, K., Sue, C., Burke, D., Ng, K. (2012). Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation - A neurophysiological study using excitability techniques. Clinical Neurophysiology, 123(7), 1454-1459. [More Information]
  • Schmidt, A., Kumar, K., Redyk, K., Grunewald, A., Leben, M., Munchau, A., Sue, C., Hagenah, J., Hartmann, H., Lohmann, K., et al (2012). Two Faces of the Same Coin: Benign Familial Infantile Seizures and Paroxysmal Kinesigenic Dyskinesia Caused by PRRT2 Mutations. JAMA Neurology, 69(5), 668-670. [More Information]
  • Ng, K., Kumar, K., Brew, B., Burke, D. (2011). Axonal excitability in viral polyneuropathy and nucleoside neuropathy in HIV patients. Journal of Neurology, Neurosurgery and Psychiatry, 82(9), 978-980. [More Information]
  • Kumar, K., Liang, C., Needham, M., Burke, D., Sue, C., Ng, K. (2011). Axonal hyperpolarization in inclusion-body myopathy, paget disease of the bone, and frontotemporal dementia (IBMPFD). Muscle and Nerve, 44(2), 191-196. [More Information]
  • Kumar, K., Djarmati, A., Grunewald, A. (2011). Genetics of Parkinson's disease. Seminars in Neurology, 31(5), 433-440. [More Information]
  • Kumar, K., Ng, K., Vandebona, H., Davis, M., Sue, C. (2010). A novel CLCN1 mutation (G1652A) causing a mild phenotype of Thomsen disease. Muscle and Nerve, 41(3), 412-415. [More Information]
  • Ng, K., Kumar, K., Brew, B., Burke, D. (2010). Axonal excitability in viral polyneuropathy and nucleoside neuropathy in HIV patients. Journal of Neurology, Neurosurgery and Psychiatry, doi:10.1136/jnnp.2009.203091, 1-3. [More Information]
  • Kumar, K., Needham, M., Mina, K., Davis, M., Brewer, J., Staples, C., Ng, K., Sue, C., Mastaglia, F. (2010). Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. Neuromuscular Disorders, 20(5), 330-334. [More Information]

2018

  • Kumar, K., Wali, G., Davis, R., Mallawaarachchi, A., Palmer, E., Gayevskiy, V., Minoche, A., Veivers, D., Dinger, M., Mackay-Sim, A., et al (2018). Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms. Molecular Genetics and Metabolism Reports, 16, 46-51. [More Information]

2017

  • Siow, S., Kumar, K. (2017). New gene implicated in early-onset generalized dystonia: Lysine-specific methyltransferase 2B (KMT2B). Movement Disorders, 32(3), 395. [More Information]
  • Vulinovic, F., Schaake, S., Domingo, A., Kumar, K., Defazio, G., Mir, P., Simonyan, K., Ozelius, L., Bruggemann, N., Chung, S., et al (2017). Screening study of TUBB4A in isolated dystonia. Parkinsonism and Related Disorders, 41, 118-120. [More Information]
  • Massey, J., Kumar, K., Ng, K., Yun, J., Fernando, S. (2017). Skeletal myositis as the sole feature of relapsing drug reaction with eosinophilia and systemic symptoms syndrome. Annals of Allergy, Asthma, & Immunology, 118(6), 726-748. [More Information]

2016

  • Kumar, K., Wali, G., Kamate, M., Wali, G., Minoche, A., Puttick, C., Pinese, M., Gayevskiy, V., Dinger, M., Roscioli, T., Sue, C., et al (2016). Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. Neurogenetics, 17(4), 265-270. [More Information]

2015

  • Geevasinga, N., Menon, P., Sue, C., Kumar, K., Ng, K., Yiannikas, C., Kiernan, M., Vucic, S. (2015). Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia. European Journal of Neurology, 22(5), 826-831. [More Information]
  • Kumar, K. (2015). Mutations in Hippocalcin and Autosomal Recessive Dystonia: A Role for Perturbed Calcium Signaling. Movement Disorders, 30(7), 911-911. [More Information]
  • Kumar, K., Vulinovic, F., Lohmann, K., Park, J., Schaake, S., Sue, C., Klein, C. (2015). Mutations in TUBB4A and spastic paraplegia. Movement Disorders, 30(13), 1857-1858. [More Information]
  • Kresojevic, N., Jankovic, M., Petrovic, I., Kumar, K., Dragasevic, N., Dobricic, V., Novakovic, I., Svetel, M., Klein, C., Pekmezovic, T., et al (2015). Presenting symptoms of GBA-related Parkinson's disease. Parkinsonism and Related Disorders, 21(7), 804-807. [More Information]
  • Kumar, K. (2015). Targeting glucocerebrosidase: Reduced enzymatic activity and Parkinson's disease. Movement Disorders, 30(12), 1620-1620. [More Information]

2014

  • Ahmad, K., Kumar, K. (2014). "Peering at the tip of the nose" As a sign of thalamic haemorrhage. Neuro-Ophthalmology, 38(1), 21-23. [More Information]
  • Hafner, J., Kumar, K., Mulligan, S., Ng, K. (2014). Multifocal central nervous system demyelination and Lhermitte's phenomenon secondary to combination chemotherapy for chronic lymphocytic leukaemia. Journal of the Neurological Sciences, 338(1-2), 218-219. [More Information]
  • Kumar, K., Lohmann, K., Masuho, I., Miyamoto, R., Ferbert, A., Lohnau, T., Kasten, M., Hagenah, J., Bruggemann, N., Sue, C., et al (2014). Mutations in GNAL: A Novel Cause of Craniocervical Dystonia. JAMA Neurology, 71(4), 490-494. [More Information]

2013

  • Arif, B., Kumar, K., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A., et al (2013). A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping. JAMA Neurology, 70(6), 783-787. [More Information]
  • Ng, K., Kumar, K., Sue, C., Burke, D. (2013). Axonal excitability during ischemia in MELAS. Muscle and Nerve, 47(5), 762-765. [More Information]
  • Kumar, K., Ramirez, A., Gobel, A., Kresojevic, N., Svetel, M., Lohmann, K., Sue, C., Rolfs, A., Mazzulli, J., Alcalay, R., et al (2013). Glucocerebrosidase mutations in a Serbian Parkinson's disease population. European Journal of Neurology, 20(2), 402-405. [More Information]
  • Kumar, K., Blair, N., Vandebona, H., Liang, C., Ng, K., Sharpe, D., Grünewald, A., Gölnitz, U., Saviouk, V., Rolfs, A., Sue, C., et al (2013). Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. Journal of Neurology, 260(10), 2516-2522. [More Information]
  • Lohmann, K., Wilcox, R., Winkler, S., Ramirez, A., Rakovic, A., Park, J., Arns, B., Lohnau, T., Groen, J., Kasten, M., Kumar, K., Sue, C., et al (2013). Whispering Dysphonia (DYT4 dystonia) Is Caused by a Mutation in the TUBB4 Gene. Annals of Neurology, 73(4), 537-545. [More Information]

2012

  • Kasten, M., Kertelge, L., Tadic, V., Bruggemann, N., Schmidt, A., Van der Vegt, J., Siebner, H., Buhmann, C., Lencer, R., Kumar, K., et al (2012). Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease. Movement Disorders, 27(6), 754-759. [More Information]
  • Kumar, K., Weissbach, A., Heldmann, M., Kasten, M., Tunc, S., Sue, C., Svetel, M., Kostic, V., Segura-Aguilar, J., Ramirez, A., et al (2012). Frequency of the D620N mutation in VPS35 in Parkinson disease. JAMA Neurology, 69(10), 1360-1364. [More Information]
  • Kumar, K., Lohmann, K., Klein, C. (2012). Genetics of Parkinson disease and other movement disorders. Current Opinion In Neurology, 25(4), 466-474. [More Information]
  • Kumar, K., Sue, C., Burke, D., Ng, K. (2012). Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation - A neurophysiological study using excitability techniques. Clinical Neurophysiology, 123(7), 1454-1459. [More Information]
  • Schmidt, A., Kumar, K., Redyk, K., Grunewald, A., Leben, M., Munchau, A., Sue, C., Hagenah, J., Hartmann, H., Lohmann, K., et al (2012). Two Faces of the Same Coin: Benign Familial Infantile Seizures and Paroxysmal Kinesigenic Dyskinesia Caused by PRRT2 Mutations. JAMA Neurology, 69(5), 668-670. [More Information]

2011

  • Ng, K., Kumar, K., Brew, B., Burke, D. (2011). Axonal excitability in viral polyneuropathy and nucleoside neuropathy in HIV patients. Journal of Neurology, Neurosurgery and Psychiatry, 82(9), 978-980. [More Information]
  • Kumar, K., Liang, C., Needham, M., Burke, D., Sue, C., Ng, K. (2011). Axonal hyperpolarization in inclusion-body myopathy, paget disease of the bone, and frontotemporal dementia (IBMPFD). Muscle and Nerve, 44(2), 191-196. [More Information]
  • Kumar, K., Djarmati, A., Grunewald, A. (2011). Genetics of Parkinson's disease. Seminars in Neurology, 31(5), 433-440. [More Information]

2010

  • Kumar, K., Ng, K., Vandebona, H., Davis, M., Sue, C. (2010). A novel CLCN1 mutation (G1652A) causing a mild phenotype of Thomsen disease. Muscle and Nerve, 41(3), 412-415. [More Information]
  • Ng, K., Kumar, K., Brew, B., Burke, D. (2010). Axonal excitability in viral polyneuropathy and nucleoside neuropathy in HIV patients. Journal of Neurology, Neurosurgery and Psychiatry, doi:10.1136/jnnp.2009.203091, 1-3. [More Information]
  • Kumar, K., Needham, M., Mina, K., Davis, M., Brewer, J., Staples, C., Ng, K., Sue, C., Mastaglia, F. (2010). Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. Neuromuscular Disorders, 20(5), 330-334. [More Information]

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