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Page 1
CNV-Finder: Streamlining Copy Number Variation Discovery.
Kuznetsov N, Daida K, Makarious MB, Al-Mubarak B, Brolin KA, Malik L, Kouam C, Baker B, Ostrozovicova M, Andersh KM, Kung PJ, Mecheri Y, Tay YW, Malek BS, Al Tassan N, Periñan MT, Hong S, Koretsky M, Sargeant L, Levine K, Blauwendraat C, Billingsley KJ, Bandres-Ciga S, Leonard HL, Morris HR, Singleton AB, Nalls MA, Vitale D; Global Parkinson’s Genetics Program (GP2). Kuznetsov N, et al. Among authors: perinan mt. bioRxiv [Preprint]. 2024 Nov 23:2024.11.22.624040. doi: 10.1101/2024.11.22.624040. bioRxiv. 2024. PMID: 39605431 Free PMC article. Preprint.
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P, Martín-Bórnez M, Muñoz-Delgado L, Díaz-Belloso R, Periñán MT, Bonilla-Toribio M, Buiza-Rueda D, Macías-García D, Jesús S, Adarmes-Gómez A, Ojeda E, Luque-Ambrosiani A, García-Díaz S, Sánchez RP, Carrillo F, Mir P. Gómez-Garre P, et al. Among authors: perinan mt. Eur J Neurol. 2025 Jan;32(1):e16499. doi: 10.1111/ene.16499. Epub 2024 Nov 5. Eur J Neurol. 2025. PMID: 39498811 Free PMC article.
Advancing Parkinson's Disease Research in Africa: A Strategic Training Framework of the Global Parkinson's Genetics Program.
Step K, Eltaraifee E, Elsayed I, Rasaholiarison N, Okubadejo N, Walker R, Mohamed W, Rizig M, Bandres-Ciga S, Noyce AJ, Dey S; Global Parkinson's Genetics Program (GP2); Bardien S, Periñan MT. Step K, et al. Among authors: perinan mt. Mov Disord. 2024 Oct 31. doi: 10.1002/mds.30051. Online ahead of print. Mov Disord. 2024. PMID: 39482233 No abstract available.
Is SH3GL2 p.G276V the Causal Functional Variant Underlying Parkinson's Disease Risk at this Locus?
Lázaro-Figueroa A, Hernández-Medrano AJ, Ramírez-Pineda DB, Navarro Cadavid A, Makarious M, Foo JN, Alvarado CX, Bandres-Ciga S, Periñan MT; Global Parkinson's Genetics Program (GP2). Lázaro-Figueroa A, et al. Among authors: perinan mt. Mov Disord. 2024 Nov;39(11):2117-2119. doi: 10.1002/mds.29719. Epub 2024 Aug 12. Mov Disord. 2024. PMID: 39133574 No abstract available.
Role of ATP10B in Parkinson disease in a cohort from southern Spain.
Díaz-Belloso R, Muñoz-Delgado L, Martín-Bornez M, Ojeda E, Periñán MT, García-Díaz S, Bonilla-Toribio M, Buiza-Rueda D, Pineda-Sánchez R, Jesús S, Macías-García D, Adarmes-Gómez A, Carrillo F, Mir P, Gómez-Garre P. Díaz-Belloso R, et al. Among authors: perinan mt. Parkinsonism Relat Disord. 2024 Jul;124:106989. doi: 10.1016/j.parkreldis.2024.106989. Epub 2024 May 1. Parkinsonism Relat Disord. 2024. PMID: 38754220
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marín-Lahoz J, Kulisevsky J, Torres S, Mir P, Periñán MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sánchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chiò A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW. Chia R, et al. Among authors: perinan mt. Neuron. 2024 Jul 3;112(13):2142-2156.e5. doi: 10.1016/j.neuron.2024.04.002. Epub 2024 May 2. Neuron. 2024. PMID: 38701790 Free article.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: perinan mt. Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10. Lancet Neurol. 2024. PMID: 38614108 Free PMC article.
GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
Ojo OO, Bandres-Ciga S, Makarious MB, Crea PW, Hernandez DG, Houlden H, Rizig M, Singleton AB, Noyce AJ, Nalls MA, Blauwendraat C, Okubadejo NU; Nigeria Parkinson's Disease Research Network and the Global Parkinson's Genetics Program (GP2). Ojo OO, et al. Mov Disord. 2024 Apr;39(4):728-733. doi: 10.1002/mds.29753. Epub 2024 Feb 23. Mov Disord. 2024. PMID: 38390630
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
Kim JJ, Vitale D, Otani DV, Lian MM, Heilbron K; 23andMe Research Team; Iwaki H, Lake J, Solsberg CW, Leonard H, Makarious MB, Tan EK, Singleton AB, Bandres-Ciga S, Noyce AJ; Global Parkinson’s Genetics Program (GP2); Blauwendraat C, Nalls MA, Foo JN, Mata I. Kim JJ, et al. Nat Genet. 2024 Jan;56(1):27-36. doi: 10.1038/s41588-023-01584-8. Epub 2023 Dec 28. Nat Genet. 2024. PMID: 38155330 Free PMC article.
43 results