Department Of Neuromuscular Diseases 1

1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
3. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
4. Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
5. Association of LRRK2 p.A419V with Parkinson’s Disease in East Asians and analysis of age at onset
6. Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
7. TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
8. Integrating Genomics and Deep Phenotyping for Diagnosing Rare Pediatric Neurological Diseases: Potential for Sustainable Healthcare in Resource-Limited Settings
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