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Page 1
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: valente em. medRxiv [Preprint]. 2024 Apr 9:2024.03.12.24304154. doi: 10.1101/2024.03.12.24304154. medRxiv. 2024. PMID: 38529492 Free PMC article. Preprint.
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, Klein C; Global Parkinson’s Genetic Program (GP2). Lange LM, et al. Among authors: valente em. NPJ Parkinsons Dis. 2023 Jun 27;9(1):100. doi: 10.1038/s41531-023-00526-9. NPJ Parkinsons Dis. 2023. PMID: 37369645 Free PMC article.
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, Klein C; Global Parkinson’s Genetic Program (GP2). Lange LM, et al. Among authors: valente em. NPJ Parkinsons Dis. 2023 Sep 13;9(1):133. doi: 10.1038/s41531-023-00560-7. NPJ Parkinsons Dis. 2023. PMID: 37704671 Free PMC article. No abstract available.
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Förster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grünewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kühn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler EM, Valente EM, Valzania F, Volkmann J, Zittel S, Brüggemann N, Kasten M, Rolfs A, Klein C; LIPAD Study Group. Usnich T, et al. Among authors: valente em. Front Neurol. 2021 Aug 9;12:710572. doi: 10.3389/fneur.2021.710572. eCollection 2021. Front Neurol. 2021. PMID: 34475849 Free PMC article.
The commercial genetic testing landscape for Parkinson's disease.
Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. Cook L, et al. Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19. Parkinsonism Relat Disord. 2021. PMID: 34696975 Free PMC article.
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors.
Liu H, Dehestani M, Blauwendraat C, Makarious MB, Leonard H, Kim JJ, Schulte C, Noyce A, Jacobs BM, Foote I, Sharma M; International Parkinson's Disease Genomics Consortium; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease Consortium; Nalls M, Singleton A, Gasser T, Bandres-Ciga S. Liu H, et al. Ann Neurol. 2022 Aug;92(2):270-278. doi: 10.1002/ana.26416. Epub 2022 Jun 24. Ann Neurol. 2022. PMID: 35599344 Free PMC article.
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium.
Grover S, Kumar Sreelatha AA, Pihlstrom L, Domenighetti C, Schulte C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Mohamed O, Portugal B, Landoulsi Z, May P, Bobbili D, Edsall C, Bartusch F, Hanussek M, Krüger J, Hernandez DG, Blauwendraat C, Mellick GD, Zimprich A, Pirker W, Tan M, Rogaeva E, Lang A, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Burbulla LF, Matsuo H, Kawamura Y, Hattori N, Nishioka K, Chung SJ, Kim YJ, Pavelka L, van de Warrenburg BPC, Bloem BR, Singleton AB, Aasly J, Toft M, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Hellberg C, Clarke CE, Morrison KE, Krainc D, Farrer MJ, Kruger R, Elbaz A, Gasser T, Sharma M; and the Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. Grover S, et al. Among authors: valente em. Neurology. 2022 Aug 16;99(7):e698-e710. doi: 10.1212/WNL.0000000000200699. Epub 2022 May 26. Neurology. 2022. PMID: 35970579 Free PMC article.
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Borsche M, et al. Among authors: valente em. Brain. 2020 Oct 1;143(10):3041-3051. doi: 10.1093/brain/awaa246. Brain. 2020. PMID: 33029617 Free PMC article.
361 results