Kaiyrzhanov R 1
1. Validation of the Kazakh version of the movement disorder Society-Unified Parkinsons disease rating scale
2. Burden of Parkinson’s disease in Central Asia from 1990 to 2021: findings from the Global Burden of Disease study
3. A Comparative Analysis of the Gut Microbiota in Patients With Parkinson’s Disease Worldwide: A Systematic Review
4. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
5. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
6. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
7. A biobank for Parkinsons disease and atypical parkinsonism in central Asian and Transcaucasian regions
8. A glimpse of the genetics of young-onset Parkinson’s disease in Central Asia
9. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
10. Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
11. GM1-Gangliosidosis Type III Associated Parkinsonism
12. Phenotypic continuum of NFU1-related disorders
13. Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
14. Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism
15. Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) (npj Parkinsons Disease, (2023), 9, 1, (100), 10.1038/s41531-023-00526-9)
16. The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
17. Association of LRRK2 p.A419V with Parkinson’s Disease in East Asians and analysis of age at onset
18. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
19. Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
20. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
21. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
22. TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
23. Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)
24. Diagnostic Algorithm Application in Pediatric Patients with Complex Neurological Phenotypes in South Kazakhstan
25. Integrating Genomics and Deep Phenotyping for Diagnosing Rare Pediatric Neurological Diseases: Potential for Sustainable Healthcare in Resource-Limited Settings
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