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Page 1
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.
Udine E, Finch NA, DeJesus-Hernandez M, Jackson JL, Baker MC, Saravanaperumal SA, Wieben E, Ebbert MTW, Shah J, Petrucelli L, Rademakers R, Oskarsson B, van Blitterswijk M. Udine E, et al. Among authors: rademakers r. Mol Neurodegener. 2024 Dec 21;19(1):99. doi: 10.1186/s13024-024-00790-0. Mol Neurodegener. 2024. PMID: 39709476 Free PMC article.
Author Correction: Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Höglinger GU, Müller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH; PSP Genetics Study Group; Crary JF, Naj A. Farrell K, et al. Among authors: rademakers r. Nat Commun. 2024 Nov 13;15(1):9828. doi: 10.1038/s41467-024-53617-3. Nat Commun. 2024. PMID: 39537593 Free PMC article. No abstract available.
Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With GRN Frontotemporal Dementia.
Borrego-Ecija S, Juncà-Parella J, Vandebergh M, Pérez Millan A, Balasa M, Llado A, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler C, Le Ber I, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Rademakers R, Rohrer JD, Sánchez-Valle R; Genetic Frontotemporal Initiative (GENFI). Borrego-Ecija S, et al. Among authors: rademakers r. Neurology. 2024 Dec 10;103(11):e209944. doi: 10.1212/WNL.0000000000209944. Epub 2024 Nov 11. Neurology. 2024. PMID: 39527772 Free PMC article.
Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; P. S. P. genetics study group; Dalgard C, Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. Among authors: rademakers r. Mol Neurodegener. 2024 Oct 14;19(1):73. doi: 10.1186/s13024-024-00763-3. Mol Neurodegener. 2024. PMID: 39402686 Free PMC article. No abstract available.
Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration.
Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber DE, Staffaroni AM, Geschwind DH, Wolf AA, Kantarci K, Gendron T, Petrucelli L, Van den Broeck M, Wynants S, Baker M, Borrego-Écija S, Appleby B, Barmada S, Bozoki AC, Clark D, Darby RR, Dickerson BC, Domoto-Reilly K, Fields JA, Galasko D, Ghoshal N, Graff-Radford NR, Grant IM, Honig LS, Hsiung GR, Huey ED, Irwin DJ, Knopman DS, Kwan JY, Léger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman PS, Ritter A, Roberson ED, Snyder A, Sullivan AC, Tartaglia MC, Wint D, Heuer HW, Forsberg LK, Boxer AL, Rosen HJ, Boeve BF, Rademakers R; ALLFTD Consortium. Vandebergh M, et al. Among authors: rademakers r. Neurology. 2024 Oct 22;103(8):e209832. doi: 10.1212/WNL.0000000000209832. Epub 2024 Sep 25. Neurology. 2024. PMID: 39321401 Free PMC article.
Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysis.
Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J; CReATe Consortium PGB1 Study Investigators. Benatar M, et al. Among authors: rademakers r. EBioMedicine. 2024 Oct;108:105323. doi: 10.1016/j.ebiom.2024.105323. Epub 2024 Sep 12. EBioMedicine. 2024. PMID: 39270623 Free PMC article.
Scywalker: scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing.
De Rijk P, Watzeels T, Küçükali F, Van Dongen J, Faura J, Willems P, De Deyn L, Duchateau L, Grones C, Eekhout T, De Pooter T, Joris G, Rombauts S, De Rybel B, Rademakers R, Van Breusegem F, Strazisar M, Sleegers K, De Coster W. De Rijk P, et al. Among authors: rademakers r. Bioinformatics. 2024 Sep 2;40(9):btae549. doi: 10.1093/bioinformatics/btae549. Bioinformatics. 2024. PMID: 39254601 Free PMC article.
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Höglinger GU, Müller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH; PSP Genetics Study Group; Crary JF, Naj A. Farrell K, et al. Among authors: rademakers r. Nat Commun. 2024 Sep 9;15(1):7880. doi: 10.1038/s41467-024-52025-x. Nat Commun. 2024. PMID: 39251599 Free PMC article.
Prognostic Clinical and Biological Markers for Amyotrophic Lateral Sclerosis Disease Progression: Validation and Implications for Clinical Trial Design and Analysis.
Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J. Benatar M, et al. Among authors: rademakers r. medRxiv [Preprint]. 2024 Aug 13:2024.08.12.24311876. doi: 10.1101/2024.08.12.24311876. medRxiv. 2024. Update in: EBioMedicine. 2024 Oct;108:105323. doi: 10.1016/j.ebiom.2024.105323 PMID: 39185513 Free PMC article. Updated. Preprint.
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; P. S. P. genetics study group; Dalgard C, Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. Among authors: rademakers r. Mol Neurodegener. 2024 Aug 16;19(1):61. doi: 10.1186/s13024-024-00747-3. Mol Neurodegener. 2024. PMID: 39152475 Free PMC article.
520 results