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Page 1
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: pimentel mmg. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease.
Voigt DD, Nascimento CM, de Souza RB, Cabello Acero PH, Campos Júnior M, da Silva CP, Pereira JS, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Della Coletta MV, da Silva DJ, Nicaretta DH, Gonçalves AP, Dos Santos JM, Calassara V, Santos-Rebouças CB, Pimentel MMG. Voigt DD, et al. Among authors: pimentel mmg. Neurobiol Aging. 2019 Feb;74:236.e7-236.e8. doi: 10.1016/j.neurobiolaging.2018.09.026. Epub 2018 Sep 27. Neurobiol Aging. 2019. PMID: 30342766
Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.
Pimentel MM, Rodrigues FC, Leite MA, Campos Júnior M, Rosso AL, Nicaretta DH, Pereira JS, Silva DJ, Della Coletta MV, Vasconcellos LF, Abreu GM, Dos Santos JM, Santos-Rebouças CB. Pimentel MM, et al. Parkinsonism Relat Disord. 2015 Jun;21(6):586-9. doi: 10.1016/j.parkreldis.2015.03.011. Epub 2015 Mar 14. Parkinsonism Relat Disord. 2015. PMID: 25817515
Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.
da Silva CP, de M Abreu G, Cabello Acero PH, Campos M Júnior, Pereira JS, de A Ramos SR, Nascimento CM, Voigt DD, Rosso AL, Araujo Leite MA, Vasconcellos LFR, Nicaretta DH, Della Coletta MV, da Silva DJ, Gonçalves AP, Dos Santos JM, Calassara V, Valença DCT, de M Martins CJ, Santos-Rebouças CB, Pimentel MMG. da Silva CP, et al. Among authors: pimentel mmg. J Neurol Sci. 2017 Oct 15;381:160-164. doi: 10.1016/j.jns.2017.08.3249. Epub 2017 Aug 24. J Neurol Sci. 2017. PMID: 28991672
Autosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil.
Abreu GM, Valença DC, Campos M Júnior, da Silva CP, Pereira JS, Araujo Leite MA, Rosso AL, Nicaretta DH, Vasconcellos LF, da Silva DJ, Della Coletta MV, Dos Santos JM, Gonçalves AP, Santos-Rebouças CB, Pimentel MM. Abreu GM, et al. Neurosci Lett. 2016 Dec 2;635:67-70. doi: 10.1016/j.neulet.2016.10.040. Epub 2016 Oct 21. Neurosci Lett. 2016. PMID: 27777137
55 results