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27 items matching your search terms.
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing
Jia, F.; Fellner, A.; Kumar, K. R.
Genes (Basel) 13 (3) 2022 10.3390/genes13030471
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings
Jia, F. F.; Drew, A. P.; Nicholson, G. A.; Corbett, A.; Kumar, K. R.
Neuromuscul Disord 31 (11) :1101-1112, 2021 10.1016/j.nmd.2021.09.010
Editorial: Genetics of Paroxysmal Movement Disorders
De Rosa, A.; Balint, B.; Kumar, K. R.
Frontiers in Neurology 12 :752000, 2021 10.3389/fneur.2021.752000
Reply to: Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome
Phua, C. S.; Kumar, K. R.; Levy, S.
JOURNAL OF THE NEUROLOGICAL SCIENCES 425 :117469, 2021 10.1016/j.jns.2021.117469
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
Chintalaphani, S. R.; Pineda, S. S.; Deveson, I. W.; Kumar, K. R.
Acta Neuropathologica Communications 9 (1) :98, 2021 10.1186/s40478-021-01201-x
Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
Qiu, J.; Kumar, K. R.; Watson, E.; Ahmad, K.; Sue, C. M.; Hayes, M. W.
Journal of Movement Disorders 14 (2) :157-160, 2021 10.14802/jmd.20159
Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia
Saputra, L.; Kumar, K. R.
Current Neurology and Neuroscience Reports 21 (4) :15, 2021 10.1007/s11910-021-01099-x
OpenAccess publication Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
Tisch, S.; Kumar, K. R.
Frontiers in Neurology 11 :630391, 2021 10.3389/fneur.2020.630391
Targeting Mitochondrial Impairment in Parkinson's Disease: Challenges and Opportunities
Prasuhn, J.; Davis, R. L.; Kumar, K. R.
Frontiers in Cell and Developmental Biology 8 :615461, 2021 10.3389/fcell.2020.615461
Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia
Phua, C. S.; Kumar, K. R.; Levy, S.
JOURNAL OF THE NEUROLOGICAL SCIENCES 419 :117167, 2020 10.1016/j.jns.2020.117167
A novel homozygous KY variant causing a complex neurological disorder
Arif, B.; Rasheed, A.; Kumar, K.R.; Fatima, A.; Abbas, G.; Wohler, E.; Sobriera, N.; Lohmann, K.; Naz, S.
European Journal of Medical Genetics 63 (11) :104031, 2020 https://doi.org/10.1016/j.ejmg.2020.104031
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Steel, D.; Zech, M.; Zhao, C.; Barwick, K. E. S.; Burke, D.; Demailly, D.; Kumar, K. R.; Zorzi, G.; Nardocci, N.; Kaiyrzhanov, R.; Wagner, M.; Iuso, A.; Berutti, R.; Skorvanek, M.; Necpal, J.; Davis, R.; Wiethoff, S.; Mankad, K.; Sudhakar, S.; Ferrini, A.; Sharma, S.; Kamsteeg, E. J.; Tijssen, M. A.; Verschuuren, C.; van Egmond, M. E.; Flowers, J. M.; McEntagart, M.; Tucci, A.; Coubes, P.; Bustos, B. I.; Gonzalez-Latapi, P.; Tisch, S.; Darveniza, P.; Gorman, K. M.; Peall, K. J.; Botzel, K.; Koch, J. C.; Kmiec, T.; Plecko, B.; Boesch, S.; Haslinger, B.; Jech, R.; Garavaglia, B.; Wood, N.; Houlden, H.; Gissen, P.; Lubbe, S. J.; Sue, C. M.; Cif, L.; Mencacci, N. E.; Anderson, G.; Kurian, M. A.; Winkelmann, J.; Genomics England Research, Consortium
ANNALS OF NEUROLOGY 88 (5) :867-877, 2020 10.1002/ana.25879
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome
Kumar, K. R.; Cortese, A.; Tomlinson, S. E.; Efthymiou, S.; Ellis, M.; Zhu, D.; Stoll, M.; Dominik, N.; Tisch, S.; Tchan, M.; Wu, K. H. C.; Devery, S.; Spring, P. J.; Hawke, S.; Cremer, P.; Ng, K.; Reilly, M. M.; Nicholson, G. A.; Houlden, H.; Kennerson, M.
BRAIN 143 (10) :e82, 2020 10.1093/brain/awaa244
Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells
Wali, G.; Kumar, K. R.; Liyanage, E.; Davis, R. L.; Mackay-Sim, A.; Sue, C. M.
Frontiers in Neuroscience 14 :820, 2020 10.3389/fnins.2020.00820
Next-Generation Sequencing and Emerging Technologies
Kumar, K. R.; Cowley, M. J.; Davis, R. L.
SEMINARS IN THROMBOSIS AND HEMOSTASIS 45 (7) :661-673, 2019 10.1055/s-0039-1688446
Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review
Siow, S. F.; Cameron Smail, R.; Ng, K.; Kumar, K. R.; Sue, C. M.
Frontiers in Neurology 10 (967) :967, 2019 10.3389/fneur.2019.00967