Houlden H 1
1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
3. A biobank for Parkinsons disease and atypical parkinsonism in central Asian and Transcaucasian regions
4. A glimpse of the genetics of young-onset Parkinson’s disease in Central Asia
5. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
6. Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
7. GM1-Gangliosidosis Type III Associated Parkinsonism
8. Phenotypic continuum of NFU1-related disorders
9. Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
10. Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism
11. 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)
12. The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
13. Association of LRRK2 p.A419V with Parkinson’s Disease in East Asians and analysis of age at onset
14. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
15. Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
16. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
17. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
18. TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
19. Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)
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