Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features

Author:

Lim Jia Lun,Lohmann Katja,Tan Ai Huey,Tay Yi Wen,Ibrahim Khairul Azmi,Abdul Aziz Zariah,Mawardi Ahmad Shahir,Puvanarajah Santhi Datuk,Lim Thien Thien,Looi Irene,Ooi Joshua Chin Ern,Chia Yuen Kang,Muthusamy Kalai Arasu,Bauer Peter,Rolfs Arndt,Klein Christine,Ahmad-Annuar AzlinaORCID,Lim Shen-YangORCID

Funder

Ministry of Higher Education Malaysia

University of Malaya Parkinson's Disease and Movement Disorder Research Program

DFG

Publisher

Springer Science and Business Media LLC

Subject

Biological Psychiatry,Psychiatry and Mental health,Neurology (clinical),Neurology

Reference68 articles.

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2. Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P, Spanish Gaucher’s Disease R (2007) Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. J Hum Genet 52(5):391–396. https://doi.org/10.1007/s10038-007-0135-4

3. Biswas A, Sadhukhan D, Biswas A, Das SK, Banerjee TK, Bal PS, Pal S, Ghosh A, Ray K, Ray J (2021) Identification of GBA mutations among neurodegenerative disease patients from eastern India. Neurosci Lett 751:135816. https://doi.org/10.1016/j.neulet.2021.135816

4. Blauwendraat C, Nalls MA, Singleton AB (2020a) The genetic architecture of Parkinson’s disease. Lancet Neurol 19(2):170–178. https://doi.org/10.1016/S1474-4422(19)30287-X

5. Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston RJB (2020b) Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia. Brain 143(1):234–248. https://doi.org/10.1093/brain/awz350

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