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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: de carvalho aguiar p. PLoS One. 2023 Oct 3;18(10):e0292180. doi: 10.1371/journal.pone.0292180. eCollection 2023. PLoS One. 2023. PMID: 37788254 Free PMC article.
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: de carvalho aguiar p. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.
Bally JF, Kern DS, Fearon C, Camargos S, Pereira da Silva-Junior F, Barbosa ER, Ozelius LJ, de Carvalho Aguiar P, Lang AE. Bally JF, et al. Among authors: de carvalho aguiar p. Mov Disord Clin Pract. 2022 Apr 28;9(5):659-675. doi: 10.1002/mdc3.13452. eCollection 2022 Jul. Mov Disord Clin Pract. 2022. PMID: 35844288 Free PMC article. Review.
Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family.
Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MH, Klein C. Kabakci K, et al. Among authors: de carvalho aguiar p. J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):860-2. doi: 10.1136/jnnp.2004.046730. J Neurol Neurosurg Psychiatry. 2005. PMID: 15897512 Free PMC article.
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Bally JF, Camargos S, Oliveira Dos Santos C, Kern DS, Lee T, Pereira da Silva-Junior F, Puga RD, Cardoso F, Barbosa ER, Yadav R, Ozelius LJ, de Carvalho Aguiar P, Lang AE. Bally JF, et al. Among authors: de carvalho aguiar p. Neurology. 2021 Apr 6;96(14):e1887-e1897. doi: 10.1212/WNL.0000000000010882. Epub 2020 Sep 17. Neurology. 2021. PMID: 32943487 Free PMC article.
Genetic heterogeneity in ten families with myoclonus-dystonia.
Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, De Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer EM, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V. Schüle B, et al. Among authors: de carvalho aguiar p. J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1181-5. doi: 10.1136/jnnp.2003.027177. J Neurol Neurosurg Psychiatry. 2004. PMID: 15258227 Free PMC article.
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon Brin D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S. Raymond D, et al. Among authors: de carvalho aguiar p, de leon brin d. Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785. Mov Disord. 2008. PMID: 18175340
37 results