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Year Number of Results
2013 3
2014 3
2015 6
2016 6
2017 3
2018 4
2019 2
2020 3
2021 1
2022 1
2024 0

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31 results

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Page 1
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P. Garcia-Moreno H, et al. Eur J Neurol. 2022 Aug;29(8):2439-2452. doi: 10.1111/ene.15373. Epub 2022 May 26. Eur J Neurol. 2022. PMID: 35478426 Free PMC article.
Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.
Koike Y, Jansen-West KR, Hanna Al-Shaikh R, Carlomagno Y, Song Y, Dunmore JA, LeDoux MS, Friedman JH, Pena AB, Uitti RJ, Zaremba J, van Gerpen JA, Pfeiffer RF, Veerappan V, Aiba I, Hashimoto R, Giles SS, Shah JS, Tipton PW, Huang JF, Wierenga KJ, Aasly J, Fryer JD, Petrucelli L, Wszolek ZK, Prudencio M. Koike Y, et al. Parkinsonism Relat Disord. 2021 Aug;89:151-154. doi: 10.1016/j.parkreldis.2021.07.018. Epub 2021 Jul 17. Parkinsonism Relat Disord. 2021. PMID: 34303201 Free PMC article.
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Prudencio M, et al. Sci Transl Med. 2020 Oct 21;12(566):eabb7086. doi: 10.1126/scitranslmed.abb7086. Sci Transl Med. 2020. PMID: 33087504 Free PMC article.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo.
Todd TW, McEachin ZT, Chew J, Burch AR, Jansen-West K, Tong J, Yue M, Song Y, Castanedes-Casey M, Kurti A, Dunmore JH, Fryer JD, Zhang YJ, San Millan B, Teijeira Bautista S, Arias M, Dickson D, Gendron TF, Sobrido MJ, Disney MD, Bassell GJ, Rossoll W, Petrucelli L. Todd TW, et al. Cell Rep. 2020 May 5;31(5):107616. doi: 10.1016/j.celrep.2020.107616. Cell Rep. 2020. PMID: 32375043 Free PMC article.
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight.
Ebbert MTW, Jensen TD, Jansen-West K, Sens JP, Reddy JS, Ridge PG, Kauwe JSK, Belzil V, Pregent L, Carrasquillo MM, Keene D, Larson E, Crane P, Asmann YW, Ertekin-Taner N, Younkin SG, Ross OA, Rademakers R, Petrucelli L, Fryer JD. Ebbert MTW, et al. Genome Biol. 2019 May 20;20(1):97. doi: 10.1186/s13059-019-1707-2. Genome Biol. 2019. PMID: 31104630 Free PMC article.
The Hairpin Form of r(G4C2)exp in c9ALS/FTD Is Repeat-Associated Non-ATG Translated and a Target for Bioactive Small Molecules.
Wang ZF, Ursu A, Childs-Disney JL, Guertler R, Yang WY, Bernat V, Rzuczek SG, Fuerst R, Zhang YJ, Gendron TF, Yildirim I, Dwyer BG, Rice JE, Petrucelli L, Disney MD. Wang ZF, et al. Cell Chem Biol. 2019 Feb 21;26(2):179-190.e12. doi: 10.1016/j.chembiol.2018.10.018. Epub 2018 Nov 29. Cell Chem Biol. 2019. PMID: 30503283 Free PMC article.
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, Petrucelli L, Fryer JD. Ebbert MTW, et al. Mol Neurodegener. 2018 Aug 21;13(1):46. doi: 10.1186/s13024-018-0274-4. Mol Neurodegener. 2018. PMID: 30126445 Free PMC article.
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.
Prudencio M, Gonzales PK, Cook CN, Gendron TF, Daughrity LM, Song Y, Ebbert MTW, van Blitterswijk M, Zhang YJ, Jansen-West K, Baker MC, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L, Link CD. Prudencio M, et al. Hum Mol Genet. 2017 Sep 1;26(17):3421-3431. doi: 10.1093/hmg/ddx233. Hum Mol Genet. 2017. PMID: 28637276 Free PMC article.
31 results