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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: mata if. medRxiv [Preprint]. 2024 Apr 9:2024.03.12.24304154. doi: 10.1101/2024.03.12.24304154. medRxiv. 2024. PMID: 38529492 Free PMC article. Preprint.
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.
Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.
Schumacher-Schuh AF, Bieger A, Okunoye O, Mok KY, Lim SY, Bardien S, Ahmad-Annuar A, Santos-Lobato BL, Strelow MZ, Salama M, Rao SC, Zewde YZ, Dindayal S, Azar J, Prashanth LK, Rajan R, Noyce AJ, Okubadejo N, Rizig M, Lesage S, Mata IF; Global Parkinson's Genetics Program (GP2). Schumacher-Schuh AF, et al. Among authors: mata if. Mov Disord. 2022 Aug;37(8):1593-1604. doi: 10.1002/mds.29126. Epub 2022 Jul 22. Mov Disord. 2022. PMID: 35867623 Free PMC article. Review.
Insights into Ancestral Diversity in Parkinsons Disease Risk: A Comparative Assessment of Polygenic Risk Scores.
Saffie Awad P, Makarious MB, Elsayed I, Sanyaolu A, Wild Crea P, Schumacher Schuh AF, Levine KS, Vitale D, Korestky MJ, Kim J, Peixoto Leal T, Perinan MT, Dey S, Noyce AJ, Reyes-Palomares A, Rodriguez-Losada N, Foo JN, Mohamed W, Heilbron K, Norcliffe-Kaufmann L; 23andMe Research Team; Rizig M, Okubadejo N, Nalls M, Blauwendraat C, Singleton A, Leonard H, Mata IF, Bandres Ciga S; Global Parkinsons Genetics Program (GP2). Saffie Awad P, et al. Among authors: mata if. medRxiv [Preprint]. 2024 May 9:2023.11.28.23299090. doi: 10.1101/2023.11.28.23299090. medRxiv. 2024. PMID: 38076954 Free PMC article. Preprint.
RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts.
Brolin K, Bandres-Ciga S, Leonard H, Makarious MB, Blauwendraat C, Mata IF, Foo JN, Pihlstrøm L, Swanberg M, Gan-Or Z, Tan MM; International Parkinson's Disease Genomics Consortium. Brolin K, et al. Among authors: mata if. Neurobiol Aging. 2022 Jan;109:264-268. doi: 10.1016/j.neurobiolaging.2021.08.009. Epub 2021 Aug 21. Neurobiol Aging. 2022. PMID: 34538707 Free PMC article.
X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson Disease.
Leal TP, French-Kwawu JN, Gouveia MH, Borda V, Inca-Martinez M, Mason EA, Horimoto AR, Loesch DP, Sarihan EI, Cornejo-Olivas MR, Torres LE, Mazzetti-Soler PE, Cosentino C, Sarapura-Castro EH, Rivera-Valdivia A, Medina AC, Dieguez EM, Raggio VE, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh A, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda Bustos CE, Yearout D, Lima-Costa MF, Tarazona E, Zabetian C, Thornton TA, O'Connor TD, Mata IF. Leal TP, et al. Among authors: mata if. medRxiv [Preprint]. 2023 Feb 2:2023.01.31.23285199. doi: 10.1101/2023.01.31.23285199. medRxiv. 2023. PMID: 36778409 Free PMC article. Updated. Preprint.
Genetic Testing for Parkinson's Disease and Movement Disorders in Less Privileged Areas: Barriers and Opportunities.
Tan AH, Cornejo-Olivas M, Okubadejo N, Pal PK, Saranza G, Saffie-Awad P, Ahmad-Annuar A, Schumacher-Schuh AF, Okeng'o K, Mata IF, Gatto EM, Lim SY. Tan AH, et al. Among authors: mata if. Mov Disord Clin Pract. 2024 Jan;11(1):14-20. doi: 10.1002/mdc3.13903. Epub 2023 Nov 29. Mov Disord Clin Pract. 2024. PMID: 38291851 No abstract available.
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW; International LRRK2 Consortium. Healy DG, et al. Lancet Neurol. 2008 Jul;7(7):583-90. doi: 10.1016/S1474-4422(08)70117-0. Epub 2008 Jun 6. Lancet Neurol. 2008. PMID: 18539534 Free PMC article.
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Sidransky E, et al. Among authors: mata if. N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281. N Engl J Med. 2009. PMID: 19846850 Free PMC article.
121 results