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Page 1
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
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.
43 results