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Kishore R. Kumar

Royal North Shore Hospital
Garvan Institute of Medical Research
Kolling Institute of Medical Research

104

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1152

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Editorial: Genetics of Paroxysmal Movement Disorders

2021 Frontiers in Neurology
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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

2021 Acta neuropathologica communications
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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

2021 medRxiv
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Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.

2021 Current Neurology and Neuroscience Reports
- Lydia Saputra
- Kishore R. Kumar
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Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings

2021 Neuromuscular Disorders
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Possible EIF2AK2-associated stress-related neurological decompensation with combined dystonia and striatal lesions

2021 Movement Disorders Clinical Practice
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Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).

2021 Journal of Medical Genetics
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Innovation in business model and finances in pediatrics

2021
- Kishore R. Kumar
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Reply to: Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome

2021 Journal of the Neurological Sciences
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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present.

2021 Journal of Movement Disorders
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