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Year Number of Results
2009 2
2010 1
2012 3
2013 4
2014 1
2015 1
2016 2
2017 5
2018 4
2019 5
2020 7
2021 7
2022 5
2023 7
2024 0

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48 results

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Page 1
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Zampogna A, Chiaravalloti MA, Griguoli A, Storto M, Pardo AD, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S. Ferese R, et al. Front Neurol. 2023 Dec 7;14:1296924. doi: 10.3389/fneur.2023.1296924. eCollection 2023. Front Neurol. 2023. PMID: 38145127 Free PMC article.
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
Vollstedt EJ, Madoev H, Aasly A, Ahmad-Annuar A, Al-Mubarak B, Alcalay RN, Alvarez V, Amorin I, Annesi G, Arkadir D, Bardien S, Barker RA, Barkhuizen M, Basak AN, Bonifati V, Boon A, Brighina L, Brockmann K, Carmine Belin A, Carr J, Clarimon J, Cornejo-Olivas M, Correia Guedes L, Corvol JC, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Rosa A, Dorszewska J, Ertan S, Ferese R, Ferreira J, Gatto E, Genç G, Giladi N, Gómez-Garre P, Hanagasi H, Hattori N, Hentati F, Hoffman-Zacharska D, Illarioshkin SN, Jankovic J, Jesús S, Kaasinen V, Kievit A, Klivenyi P, Kostic V, Koziorowski D, Kühn AA, Lang AE, Lim SY, Lin CH, Lohmann K, Markovic V, Martikainen MH, Mellick G, Merello M, Milanowski L, Mir P, Öztop-Çakmak Ö, Pimentel MMG, Pulkes T, Puschmann A, Rogaeva E, Sammler EM, Skaalum Petersen M, Skorvanek M, Spitz M, Suchowersky O, Tan AH, Termsarasab P, Thaler A, Tumas V, Valente EM, van de Warrenburg B, Williams-Gray CH, Wu RM, Zhang B, Zimprich A, Solle J, Padmanabhan S, Klein C. Vollstedt EJ, et al. Among authors: ferese r. PLoS One. 2023 Oct 3;18(10):e0292180. doi: 10.1371/journal.pone.0292180. eCollection 2023. PLoS One. 2023. PMID: 37788254 Free PMC article.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Among authors: ferese r. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis.
Dolcetti E, Bruno A, Azzolini F, Gilio L, Pavone L, Iezzi E, Galifi G, Gambardella S, Ferese R, Buttari F, De Vito F, Colantuono P, Furlan R, Finardi A, Musella A, Mandolesi G, Centonze D, Stampanoni Bassi M. Dolcetti E, et al. Among authors: ferese r. Mult Scler. 2023 Apr;29(4-5):512-520. doi: 10.1177/13524585231155049. Epub 2023 Feb 19. Mult Scler. 2023. PMID: 36803228
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: ferese r. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
Modeling native and seeded Synuclein aggregation and related cellular dysfunctions in dopaminergic neurons derived by a new set of isogenic iPSC lines with SNCA multiplications.
Iannielli A, Luoni M, Giannelli SG, Ferese R, Ordazzo G, Fossati M, Raimondi A, Opazo F, Corti O, Prehn JHM, Gambardella S, Melki R, Broccoli V. Iannielli A, et al. Among authors: ferese r. Cell Death Dis. 2022 Oct 19;13(10):881. doi: 10.1038/s41419-022-05330-6. Cell Death Dis. 2022. PMID: 36261424 Free PMC article.
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis.
Bruno A, Dolcetti E, Azzolini F, Moscatelli A, Gambardella S, Ferese R, Rizzo FR, Gilio L, Iezzi E, Galifi G, Borrelli A, Buttari F, Furlan R, Finardi A, De Vito F, Musella A, Guadalupi L, Mandolesi G, Centonze D, Stampanoni Bassi M. Bruno A, et al. Among authors: ferese r. Genes (Basel). 2022 May 17;13(5):897. doi: 10.3390/genes13050897. Genes (Basel). 2022. PMID: 35627281 Free PMC article.
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Chiaravalloti MA, Zampogna A, D'Alessio C, Fittipaldi F, Buttari F, Di Pardo A, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S. Ferese R, et al. Clin Genet. 2022 Aug;102(2):155-156. doi: 10.1111/cge.14142. Epub 2022 May 6. Clin Genet. 2022. PMID: 35524423
48 results