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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization.
Tazelaar GHP, Boeynaems S, De Decker M, van Vugt JJFA, Kool L, Goedee HS, McLaughlin RL, Sproviero W, Iacoangeli A, Moisse M, Jacquemyn M, Daelemans D, Dekker AM, van der Spek RA, Westeneng HJ, Kenna KP, Assialioui A, Da Silva N; Project MinE ALS Sequencing Consortium; Povedano M, Pardina JSM, Hardiman O, Salachas F, Millecamps S, Vourc'h P, Corcia P, Couratier P, Morrison KE, Shaw PJ, Shaw CE, Pasterkamp RJ, Landers JE, Van Den Bosch L, Robberecht W, Al-Chalabi A, van den Berg LH, Van Damme P, Veldink JH, van Es MA. Tazelaar GHP, et al. Brain Commun. 2020 May 19;2(2):fcaa064. doi: 10.1093/braincomms/fcaa064. eCollection 2020. Brain Commun. 2020. PMID: 32954321 Free PMC article.
Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.
Hosoda Y, Miyake M, Schellevis RL, Boon CJF, Hoyng CB, Miki A, Meguro A, Sakurada Y, Yoneyama S, Takasago Y, Hata M, Muraoka Y, Nakanishi H, Oishi A, Ooto S, Tamura H, Uji A, Miyata M, Takahashi A, Ueda-Arakawa N, Tajima A, Sato T, Mizuki N, Shiragami C, Iida T, Khor CC, Wong TY, Yamada R, Honda S, de Jong EK, Hollander AID, Matsuda F, Yamashiro K, Tsujikawa A. Hosoda Y, et al. Among authors: schellevis rl. Commun Biol. 2019 Dec 12;2:468. doi: 10.1038/s42003-019-0712-z. eCollection 2019. Commun Biol. 2019. PMID: 31872073 Free PMC article.
Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila.
Castells-Nobau A, Eidhof I, Fenckova M, Brenman-Suttner DB, Scheffer-de Gooyert JM, Christine S, Schellevis RL, van der Laan K, Quentin C, van Ninhuijs L, Hofmann F, Ejsmont R, Fisher SE, Kramer JM, Sigrist SJ, Simon AF, Schenck A. Castells-Nobau A, et al. Among authors: schellevis rl. PLoS One. 2019 Feb 12;14(2):e0211652. doi: 10.1371/journal.pone.0211652. eCollection 2019. PLoS One. 2019. PMID: 30753188 Free PMC article.
30 results