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Kishore Raj Kumar
Kishore Raj Kumar
Garvan Institute of Medical Research
Verified email at uni.sydney.edu.au
Title
Cited by
Cited by
Year
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
3202019
Next-generation sequencing and emerging technologies
KR Kumar, MJ Cowley, RL Davis
Seminars in thrombosis and hemostasis 45 (07), 661-673, 2019
2552019
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
2012013
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
1752013
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
1152012
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
SR Chintalaphani, SS Pineda, IW Deveson, KR Kumar
Acta Neuropathologica Communications 9 (1), 98, 2021
1022021
Genetics of Parkinson disease and other movement disorders
KR Kumar, K Lohmann, C Klein
Current opinion in neurology 25 (4), 466-474, 2012
1012012
Genetics of Parkinson's disease
KR Kumar, A Djarmati-Westenberger, A Grünewald
Seminars in neurology 31 (05), 433-440, 2011
942011
Targeting mitochondrial impairment in Parkinson's disease: challenges and opportunities
J Prasuhn, RL Davis, KR Kumar
Frontiers in cell and developmental biology 8, 615461, 2021
932021
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
I Stevanovski, SR Chintalaphani, H Gamaarachchi, JM Ferguson, ...
Science advances 8 (9), eabm5386, 2022
862022
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
832014
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
782020
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
772010
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ...
The American Journal of Human Genetics 110 (1), 105-119, 2023
752023
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ...
Brain 143 (11), 3242-3261, 2020
642020
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
632013
Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force–an update
LM Lange, P Gonzalez‐Latapi, R Rajalingam, MAJ Tijssen, ...
Movement Disorders 37 (5), 905-935, 2022
622022
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, 2516-2522, 2013
622013
Monogenic Parkinson’s disease: genotype, phenotype, pathophysiology, and genetic testing
F Jia, A Fellner, KR Kumar
Genes 13 (3), 471, 2022
592022
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
552015
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