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14 results

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Page 1
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle JC, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson's Genetics Program (GP2). Junker J, et al. Among authors: annuar aa. Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. Epub 2024 Jul 30. Mov Disord. 2024. PMID: 39076159 Free PMC article.
Understanding monogenic Parkinson's disease at a global scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle J, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson’s Genetics Program (GP2). Junker J, et al. Among authors: annuar aa. medRxiv [Preprint]. 2024 Apr 9:2024.03.12.24304154. doi: 10.1101/2024.03.12.24304154. medRxiv. 2024. Update in: Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. PMID: 38529492 Free PMC article. Updated. Preprint.
Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.
Ankathil R, Zakaria WNA, Rostenberghe HV, Ibrahim NR, Ramli N, Ismail SM, Mohd Nawi NA, Mat Zin NMZ, Ramli N, Abu Bakar Z, Rasudin NFS, Chia BH, Mohd Adam NA, Mohd Yunus N, Annuar AA, Sulong S, Alwi Z. Ankathil R, et al. Among authors: annuar aa. Malays J Pathol. 2022 Aug;44(2):235-244. Malays J Pathol. 2022. PMID: 36043586 Free article.
Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry.
Lim SY, Tan AH, Foo JN, Tan YJ, Chew EG, Annuar AA, Closas AMD, Pajo A, Lim JL, Tay YW, Nadhirah A, Hor JW, Toh TS, Lit LC, Zulkefli J, Ngim SJ, Lim WK, Morris HR, Tan EK, Ng AS. Lim SY, et al. Among authors: annuar aa. J Mov Disord. 2024 Apr;17(2):213-217. doi: 10.14802/jmd.24009. Epub 2024 Jan 31. J Mov Disord. 2024. PMID: 38291878 Free PMC article.
Genetic analysis of the cytoplasmic dynein subunit families.
Pfister KK, Shah PR, Hummerich H, Russ A, Cotton J, Annuar AA, King SM, Fisher EM. Pfister KK, et al. Among authors: annuar aa. PLoS Genet. 2006 Jan;2(1):e1. doi: 10.1371/journal.pgen.0020001. PLoS Genet. 2006. PMID: 16440056 Free PMC article.
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