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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Trinh J, Lüth T, Schaake S, Laabs BH, Schlüter K, Laβ J, Pozojevic J, Tse R, König I, Jamora RD, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Kaiser FJ, Depienne C, Pearson CE, Westenberger A, Klein C. Trinh J, et al. Brain. 2023 Mar 1;146(3):1075-1082. doi: 10.1093/brain/awac160. Brain. 2023. PMID: 35481544 Free PMC article.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Among authors: trinh j. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 Free PMC article.
Utility and implications of exome sequencing in early-onset Parkinson's disease.
Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC); Klein C. Trinh J, et al. Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10. Mov Disord. 2019. PMID: 30537300 Free PMC article.
How Do I Confirm that a New Mutation is Pathogenic?
Trinh J, Tadic V, Klein C. Trinh J, et al. Mov Disord Clin Pract. 2018 Mar 23;5(2):229. doi: 10.1002/mdc3.12600. eCollection 2018 Mar-Apr. Mov Disord Clin Pract. 2018. PMID: 30868102 Free PMC article.
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
Germer EL, Imhoff S, Vilariño-Güell C, Kasten M, Seibler P, Brüggemann N; International Parkinson’s Disease Genomics Consortium; Klein C, Trinh J. Germer EL, et al. Among authors: trinh j. Front Neurol. 2019 Dec 13;10:1284. doi: 10.3389/fneur.2019.01284. eCollection 2019. Front Neurol. 2019. PMID: 31920912 Free PMC article.
186 results