RK
Rauan Kaiyrzhanov
National center for neurosurgery, Main Military Clinical Hospital of the Ministry of Defence, University College London, UCL Institute of Neurology, University College London
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Parkinson's Disease Mechanisms and Treatments
0000-0003-1640-4010
Employment
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National center for neurosurgery Chief manager of scientific research department2017 - Present
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Main Military Clinical Hospital of the Ministry of Defence Psychiatrist2008 - 2016
Education
- 2018 - 2023
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UCL Institute of Neurology, University College London Msc2015 - 2016
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Semey kalasy memlekettik meditsina universiteti BSc2001 - 2007
Projects & Funding
Projects & funding information is unavailable.
Publications (30)
- DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies Save
- Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy Save
- Diagnostic Algorithm Application in Pediatric Patients with Complex Neurological Phenotypes in South Kazakhstan Save
- Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy Save
- A Comparative Analysis of the Gut Microbiota in Patients With Parkinson’s Disease Worldwide: A Systematic Review Save
- МОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКИЕ ПРИЧИНЫ ЭПИЛЕПТИЧЕСКИХ ЭНЦЕФАЛОПАТИЙ, НЕЙРОДЕГЕНЕРАТИВНЫХ ЗАБОЛЕВАНИЙ И КОМПЛЕКСНЫХ НЕВРОЛОГИЧЕСКИХ ФЕНОТИПОВ У ДЕТЕЙ В ТУРКЕСТАНСКОМ РЕГИОНЕ Save
- The Use of Amantadine in a Patient with Pneumonia and Parkinson’s Disease: A Case Report Save
- Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment Save
- Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia Save
- Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy Save
- Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia Save
- Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders Save
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders Save
- Phenotypic continuum of NFU1‐related disorders Save
- Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement Save
- GGPS1‐associated muscular dystrophy with and without hearing loss Save
- Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder Save
- Biallelic loss of EMC10 leads to mild to severe intellectual disability Save
- Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy Save
- Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course Save