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Our Publications

Publications involving CAT patients from 2018 can be seen in the following papers:

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia. Kaiyrzhanov et al, 2024

https://www.nature.com/articles/s41588-024-02016-x 

A biobank for Parkinson's disease and atypical parkinsonism in central Asian and Transcaucasian regions. 

Central Asian and Transcaucasian Parkinson's Disease Consortium et al, 2024

https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(24)00313-2/fulltext

 

Validation of the Kazakh Version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale

Abdraimova et al, 2023 

https://www.sciencedirect.com/science/article/pii/S259011252400001X 

Parkinson's Disease in Kazakhstan: Clinico-Demographic Description of a Large Cohort. Kaiyrzhanov et al, 2023

https://pubmed.ncbi.nlm.nih.gov/32144996/ 

GM1-Gangliosidosis Type III Associated Parkinsonism. Kaiyrzhanov et al, 2023

https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mdc3.13289 

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Kaiyrzhanov et al, 2023

https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awad380/7407365 

 

 

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Engel et al, 2023 

https://pubmed.ncbi.nlm.nih.gov/37344571/   

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Saida et al, 2023 

https://pubmed.ncbi.nlm.nih.gov/36318270/ 

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Kaiyrzhanov et al, 2023

https://pubmed.ncbi.nlm.nih.gov/36055214/ 

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Dana Marafi et al, 2022 

https://pubmed.ncbi.nlm.nih.gov/34605855/  

 
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Marcello Scala et al, 2022 

https://pubmed.ncbi.nlm.nih.gov/34989426/  

 

Phenotypic continuum of NFU1-related disorders. Kaiyrzhanov et al, 2022  

https://pubmed.ncbi.nlm.nih.gov/36256512/  

 
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Christensen et al, 2022  

https://pubmed.ncbi.nlm.nih.gov/35616059/  

 

Biallelic loss of EMC10 leads to mild to severe intellectual disability. Kaiyrzhanov et al, 2022  

https://pubmed.ncbi.nlm.nih.gov/35684946/  

 

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range. Salayev et al, 2022  

https://pubmed.ncbi.nlm.nih.gov/36122674/  

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Poole et al, 2021 

https://onlinelibrary.wiley.com/doi/full/10.1002/ana.26063 

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Elodie M Richard et al, 2021 

https://pubmed.ncbi.nlm.nih.gov/34626583/ 

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Tremblay-Laganiere et al, 2021 

https://pubmed.ncbi.nlm.nih.gov/33156547/ 

 
A glimpse of the genetics of young-onset Parkinson's disease in Central Asia. Kaiyrzhanov et al, 2021  

https://pubmed.ncbi.nlm.nih.gov/33818904/  

 

 
LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan. Kaiyrzhanov et al, 2020 

https://pubmed.ncbi.nlm.nih.gov/32148752/  

 

Parkinson's Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care. Kaiyrzhanov et al, 2019 

https://pubmed.ncbi.nlm.nih.gov/31485304/ 

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