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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: hoffman zacharska d. PLoS One. 2023 Oct 3;18(10):e0292180. doi: 10.1371/journal.pone.0292180. eCollection 2023. PLoS One. 2023. PMID: 37788254 Free PMC article.
Expanding the phenotype associated with missense mutations of the ARX gene.
Charzewska A, Nawara M, Jakubiuk-Tomaszuk A, Obersztyn E, Hoffman-Zacharska D, Elert E, Jurek M, Bartnik M, Poznański J, Bal J. Charzewska A, et al. Am J Med Genet A. 2013 Jul;161A(7):1813-6. doi: 10.1002/ajmg.a.36003. Epub 2013 May 8. Am J Med Genet A. 2013. PMID: 23657928 No abstract available.
Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.
Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski JA, Jurek M, Wszolek ZK, Soto-Ortolaza A, Awek JAS, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A. Hoffman-Zacharska D, et al. Parkinsonism Relat Disord. 2013 Nov;19(11):1057-1060. doi: 10.1016/j.parkreldis.2013.07.011. Epub 2013 Aug 2. Parkinsonism Relat Disord. 2013. PMID: 23916651 Free PMC article.
87 results