Kishore Raj Kumar
Kishore Raj Kumar
Garvan Institute of Medical Research
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Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
K Lohmann, RA Wilcox, S Winkler, A Ramirez, A Rakovic, JS Park, B Arns, ...
Annals of neurology 73 (4), 537-545, 2013
Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort
B Mollenhauer, E Trautmann, F Sixel-Döring, T Wicke, J Ebentheuer, ...
Neurology 81 (14), 1226-1234, 2013
New insights into the complex role of mitochondria in Parkinson’s disease
A Grünewald, KR Kumar, CM Sue
Progress in neurobiology 177, 73-93, 2019
Frequency of the D620N mutation in VPS35 in Parkinson disease
KR Kumar, A Weissbach, M Heldmann, M Kasten, S Tunc, CM Sue, ...
Archives of neurology 69 (10), 1360-1364, 2012
Genetics of Parkinson disease and other movement disorders
KR Kumar, K Lohmann, C Klein
Current opinion in neurology 25 (4), 466-474, 2012
Genetics of Parkinson's disease
KR Kumar, A Djarmati-Westenberger, A Grünewald
Seminars in neurology 31 (05), 433-440, 2011
Mutations in GNAL: a novel cause of craniocervical dystonia
KR Kumar, K Lohmann, I Masuho, R Miyamoto, A Ferbert, T Lohnau, ...
JAMA neurology 71 (4), 490-494, 2014
Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: novel clinical and genetic findings
KR Kumar, M Needham, K Mina, M Davis, J Brewer, C Staples, K Ng, ...
Neuromuscular Disorders 20 (5), 330-334, 2010
Next-generation sequencing and emerging technologies
KR Kumar, MJ Cowley, RL Davis
Seminars in thrombosis and hemostasis 45 (07), 661-673, 2019
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
KR Kumar, NF Blair, H Vandebona, C Liang, K Ng, DM Sharpe, ...
Journal of neurology 260 (10), 2516-2522, 2013
Glucocerebrosidase mutations in a Serbian Parkinson's disease population
KR Kumar, A Ramirez, A Göbel, N Kresojević, M Svetel, K Lohmann, ...
European journal of neurology 20 (2), 402-405, 2013
Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia
N Geevasinga, P Menon, CM Sue, KR Kumar, K Ng, C Yiannikas, ...
European journal of neurology 22 (5), 826-e58, 2015
Depression and quality of life in monogenic compared to idiopathic, early‐onset Parkinson's disease
M Kasten, L Kertelge, V Tadic, N Brüggemann, A Schmidt, J van der Vegt, ...
Movement Disorders 27 (6), 754-759, 2012
Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations
A Schmidt, KR Kumar, K Redyk, A Grünewald, M Leben, A Münchau, ...
Archives of neurology 69 (5), 668-670, 2012
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
KR Kumar, GM Wali, M Kamate, G Wali, AE Minoche, C Puttick, M Pinese, ...
Neurogenetics 17 (4), 265-270, 2016
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping
B Arif, KR Kumar, P Seibler, F Vulinovic, A Fatima, S Winkler, G Nürnberg, ...
JAMA neurology 70 (6), 783-787, 2013
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
KR Kumar, RL Davis, MC Tchan, GM Wali, N Mahant, K Ng, K Kotschet, ...
Parkinsonism & related disorders 69, 111-118, 2019
Presenting symptoms of GBA-related Parkinson's disease
N Kresojević, M Janković, I Petrović, KR Kumar, N Dragašević, V Dobričić, ...
Parkinsonism & related disorders 21 (7), 804-807, 2015
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ...
Annals of neurology 88 (5), 867-877, 2020
Transient changes on brain magnetic resonance imaging in a patient with Sturge-Weber syndrome presenting with hemiparesis
KR Kumar, K Hon, D Schultz, MJ Agzarian, DN Jones, D Thyagarajan
The neurologist 15 (6), 351-354, 2009
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