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Year Number of Results
2009 1
2010 3
2011 2
2012 3
2013 7
2014 3
2015 9
2016 10
2017 8
2018 10
2019 11
2020 8
2021 17
2022 6
2023 15
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2026 9

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128 results

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Page 1
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Mencacci NE, Minakaki G, Maroofian R, De Pace R, Paimboeuf A, Branco Fonseca T, Abramova T, Shannon P, Chitayat D, Magrinelli F, Peng WJ, Chatterjee D, Eldessouky SH, Baptista J, Marton T, Vogt J, Ortigoza-Escobar JD, Martorell L, Gómez-Chiari M, Wentzensen IM, Kamsteeg EJ, Zaki MS, Scardamaglia A, Zifarelli G, Al-Hassnan ZN, Miller E, Shinar S, Matsa LS, Appikonda SHC, Otaify GA, Al-Thihli K, Al-Maawali A, Schwake M, Severino M, Houlden H, Patten SA, Bonifacino JS, Bhatia KP, Krainc D. Mencacci NE, et al. J Clin Invest. 2026 Apr 21:e195336. doi: 10.1172/JCI195336. Online ahead of print. J Clin Invest. 2026. PMID: 42012897 Free article.
Genome-wide association study of copy number variations in Parkinson's disease.
Landoulsi Z, Sreelatha AAK, Kuznetsov N, Schulte C, Bobbili DR, Montanucci L, Leu C, Niestroj LM, Hassanin E, Domenighetti C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Portugal B, Edsall C, 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, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Pavelka L, Kolber P, van de Warrenburg BP, Bloem BR, Singleton AB, Vitale D, Toft M, Pihlstrom L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Clarke CE, Morrison KE, Krainc D, Farrer MJ, Lal D; Global Parkinson Genetics Program (GP2); Elbaz A, Gasser T, Krüger R, Sharma M, May P; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium. Landoulsi Z, et al. NPJ Parkinsons Dis. 2026 Apr 20. doi: 10.1038/s41531-025-01245-z. Online ahead of print. NPJ Parkinsons Dis. 2026. PMID: 42009659 Free article.
Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.
Step K, Hernández CF, Khani M, Eltaraifee E, Hernández-Medrano AJ, Kung PJ, Ostrožovičová M, Zirra A, Pérez-Palma E, Mencacci NE, Keller Sarmiento IJ, Morris HR, Mata IF, Acosta-Uribe J, Fang ZH, Bandres-Ciga S; Global Parkinson's Genetics Program (GP2). Step K, et al. Among authors: mencacci ne. Mov Disord. 2026 Mar 11. doi: 10.1002/mds.70182. Online ahead of print. Mov Disord. 2026. PMID: 41808632
Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.
Khani M, Yeboah SN, Cerquera-Cleves C, Kedmi A, Bustos BI, Grant SM, Akerman SC, Akçimen F, Lee PS, Reyes-Pérez P, Lange LM, Leonard H, Koretsky MJ, Makarious MB, Schneider Z, Jonson C, Chen PS, Tay YW, Rothstein JD, Lin CH, Lim SY, Klein C, Merchant K, Mencacci NE, Krainc D, Cookson MR; Global Parkinson’s Genetics Program (GP2); Singleton A, Bandres-Ciga S. Khani M, et al. Among authors: mencacci ne. medRxiv [Preprint]. 2026 Feb 2:2026.01.24.26344530. doi: 10.64898/2026.01.24.26344530. medRxiv. 2026. PMID: 41646738 Free PMC article. Preprint.
Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.
Lim KS, Periñan MT, Chew EGY, Lee PS, Akçimen F, Lim JL, Koretsky MJ, Funayama M, Yoshino H, Hattori N, Kaiyrzhanov R, Houlden H, Isayan M, Tay YW, Toh TS, Lit LC, Khairul Anuar AN, Ding HX, Screven L, Ibrahim NM, Lin CH, Kim HJ, Lee JY, Chung SJ, Foo JN, Tan EK, Lim SY, Tan AH, Bandres-Ciga S, Ahmad-Annuar A; Global Parkinson’s Genetics Program (GP2). Lim KS, et al. NPJ Parkinsons Dis. 2026 Feb 2;12(1):51. doi: 10.1038/s41531-026-01265-3. NPJ Parkinsons Dis. 2026. PMID: 41629305 Free PMC article.
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM, Fang ZH, Screven L, Tan AH, Alcalay RN, Amouri R, Bovenzi R, Fenn M, Frost JLI, Jankovic J, Jasaityte S, Jaunmuktane Z, Jeon B, Sarmiento IJK, Krüger R, Kuhlenbäumer G, Lin CH, Pavelka L, Periñan MT, Sassi SB, Schirinzi T, Shin JH, Shulman JM, Tay YW, Uitti R, Warner T, Wszolek ZK, Wu L, Wu RM, Zeuner KE, Blauwendraat C, Singleton A, Mencacci NE, Morris HR, Lim SY, Lohmann K, Klein C; Global Parkinson's Genetics Program (GP2). Lange LM, et al. Among authors: mencacci ne. Mov Disord. 2026 Jan;41(1):247-259. doi: 10.1002/mds.70073. Epub 2025 Oct 11. Mov Disord. 2026. PMID: 41074695 Free PMC article.
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Dafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi-Fakhari D, Çavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Õunap K, Devadathan K, van Berkestijn FMC, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi-Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, Hız S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attié-Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Engelen M, … See abstract for full author list ➔ Dafsari HS, et al. Among authors: mencacci ne. Ann Neurol. 2025 Nov;98(5):932-950. doi: 10.1002/ana.78013. Epub 2025 Oct 6. Ann Neurol. 2025. PMID: 41053928 Free PMC article.
128 results