KK
Kishore Raj Kumar
The University of Sydney
Research areas: Neuroscience · Cellular and Molecular Neuroscience · Hereditary Neurological Disorders · Genetic Neurodegenerative Diseases · Neurological disorders and treatments
0000-0003-3482-6962
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Publications (170)
- Association of LRRK2 p.A419V with Parkinson’s Disease in East Asians and analysis of age at onset Save
- From disease to syndrome: the evolution of Parkinson’s as a heterogeneous entity Save
- Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology Save
- Insights from a cross-sectional population-based study of 10,929 Australians living with Parkinson's disease: risk factors, comorbidities, and sex differences Save
- MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights Save
- Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants Save
- Two-year decline in performance on the Cerebellar Cognitive Affective Syndrome Scale in spinocerebellar ataxias Save
- ‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy Save
- Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease Save
- A diagnostic challenge: Spinocerebellar ataxia type 6 presenting with dystonia and parkinsonism Save
- A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia Save
- A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity Save
- Automated Online Speech Analytics Reveal Language and Affective Changes in Parkinson’s Disease Save
- Barriers to clinical genetic testing in movement disorders Save
- Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease Save
- Cerebral venous sinus thrombosis after intrathecal administration of nusinersen Save
- Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities Save
- Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities Save
- Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort Save
- Designing and Validating a Hereditary Spastic Paraplegia-Specific Quality of Life Rating Scale (HSPQoL) Save