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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Among authors: woltjer rl. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Gregory A, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13. Mol Genet Genomic Med. 2019. PMID: 31087512 Free PMC article.
Spatially mapped single-cell chromatin accessibility.
Thornton CA, Mulqueen RM, Torkenczy KA, Nishida A, Lowenstein EG, Fields AJ, Steemers FJ, Zhang W, McConnell HL, Woltjer RL, Mishra A, Wright KM, Adey AC. Thornton CA, et al. Among authors: woltjer rl. Nat Commun. 2021 Feb 24;12(1):1274. doi: 10.1038/s41467-021-21515-7. Nat Commun. 2021. PMID: 33627658 Free PMC article.
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, … See abstract for full author list ➔ Chia R, et al. Among authors: woltjer r. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
Central hypoventilation in progressive supranuclear palsy.
Herrick KS, Woltjer R, Pham T, Chalupsky M, Hiller AL. Herrick KS, et al. Mov Disord Clin Pract. 2017 Jan-Feb;4(1):42-45. doi: 10.1002/mdc3.12348. Epub 2016 May 19. Mov Disord Clin Pract. 2017. PMID: 28367478 Free PMC article.
Decoding perineuronal net glycan sulfation patterns in the Alzheimer's disease brain.
Logsdon AF, Francis KL, Richardson NE, Hu SJ, Faber CL, Phan BA, Nguyen V, Setthavongsack N, Banks WA, Woltjer RL, Keene CD, Latimer CS, Schwartz MW, Scarlett JM, Alonge KM. Logsdon AF, et al. Among authors: woltjer rl. Alzheimers Dement. 2022 May;18(5):942-954. doi: 10.1002/alz.12451. Epub 2021 Sep 5. Alzheimers Dement. 2022. PMID: 34482642 Free PMC article.
Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies.
Reho P, Saez-Atienzar S, Ruffo P, Solaiman S, Shah Z, Chia R, Kaivola K, Traynor BJ, Tilley BS, Gentleman SM, Hodges AK, Aarsland D, Monuki ES, Newell KL, Woltjer R, Albert MS, Dawson TM, Rosenthal LS, Troncoso JC, Pletnikova O, Serrano GE, Beach TG, Easwaran HP, Scholz SW. Reho P, et al. Commun Biol. 2024 Jan 5;7(1):35. doi: 10.1038/s42003-023-05725-x. Commun Biol. 2024. PMID: 38182665 Free PMC article.
CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH-associated neurodegeneration and mass lesions.
McClain KL, Picarsic J, Chakraborty R, Zinn D, Lin H, Abhyankar H, Scull B, Shih A, Lim KPH, Eckstein O, Lubega J, Peters TL, Olea W, Burke T, Ahmed N, Hicks MJ, Tran B, Jones J, Dauser R, Jeng M, Baiocchi R, Schiff D, Goldman S, Heym KM, Wilson H, Carcamo B, Kumar A, Rodriguez-Galindo C, Whipple NS, Campbell P, Murdoch G, Kofler J, Heales S, Malone M, Woltjer R, Quinn JF, Orchard P, Kruer MC, Jaffe R, Manz MG, Lira SA, Parsons DW, Merad M, Man TK, Allen CE. McClain KL, et al. Cancer. 2018 Jun 15;124(12):2607-2620. doi: 10.1002/cncr.31348. Epub 2018 Apr 6. Cancer. 2018. PMID: 29624648 Free PMC article.
185 results