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Page 1
Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.
Bustillos BA, Cocker LT, Coban MA, Weber CA, Bredenberg JM, Boneski PK, Siuda J, Slawek J, Puschmann A, Narendra DP, Graff-Radford NR, Wszolek ZK, Dickson DW, Ross OA, Caulfield TR, Springer W, Fiesel FC. Bustillos BA, et al. Among authors: dickson dw. Cells. 2024 Sep 13;13(18):1540. doi: 10.3390/cells13181540. Cells. 2024. PMID: 39329724 Free PMC article.
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.
Udine E, DeJesus-Hernandez M, Tian S, das Neves SP, Crook R, Finch NA, Baker MC, Pottier C, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Oskarsson B, Da Mesquita S, Petrucelli L, Gendron TF, Dickson DW, Rademakers R, van Blitterswijk M. Udine E, et al. Among authors: dickson dw. Acta Neuropathol. 2024 Apr 19;147(1):73. doi: 10.1007/s00401-024-02720-2. Acta Neuropathol. 2024. PMID: 38641715 Free PMC article.
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marín-Lahoz J, Kulisevsky J, Torres S, Mir P, Periñán MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sánchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chiò A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW. Chia R, et al. Among authors: dickson dw. Neuron. 2024 Jul 3;112(13):2142-2156.e5. doi: 10.1016/j.neuron.2024.04.002. Epub 2024 May 2. Neuron. 2024. PMID: 38701790 Free article.
Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Wu LY, Real R, Martinez-Carrasco A, Chia R, Lawton MA, Shoai M, Bresner C, Blauwendraat C, Singleton AB, Ryten M; International Lewy Body Dementia Genomics Consortium; Scholz SW, Traynor BJ, Williams NM, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Wu LY, et al. Brain Commun. 2024 May 31;6(4):fcae190. doi: 10.1093/braincomms/fcae190. eCollection 2024. Brain Commun. 2024. PMID: 38978726 Free PMC article.
Correction: HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.
Calliari A, Daughrity LM, Albagli EA, Castellanos Otero P, Yue M, Jansen-West K, Islam NN, Caulfield T, Rawlinson B, DeTure M, Cook C, Graff-Radford NR, Day GS, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Oskarsson B, Gitler AD, Dickson DW, Gendron TF, Prudencio M, Ward ME, Zhang YJ, Petrucelli L. Calliari A, et al. Among authors: dickson dw. Mol Neurodegener. 2024 Jul 27;19(1):56. doi: 10.1186/s13024-024-00744-6. Mol Neurodegener. 2024. PMID: 39068448 Free PMC article. No abstract available.
[No title available]
[No authors listed] [No authors listed] PMID: 39112075
Prominent loss of striatal dopamine transporter binding in frontotemporal lobar degeneration with the MAPT N279K mutation present as early as at prodromal stage without parkinsonism.
Miyagawa T, Vernon C, Przybelski SA, Min PH, Fields JA, Dickerson BC, Dickson DW, Kantarci K, Lowe VJ, Wszolek ZK, Boeve BF. Miyagawa T, et al. Among authors: dickson dw. Parkinsonism Relat Disord. 2024 Nov;128:107144. doi: 10.1016/j.parkreldis.2024.107144. Epub 2024 Sep 8. Parkinsonism Relat Disord. 2024. PMID: 39276720
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: dickson dw. 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.
Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls TT, Andersen SL, Zmuda JM, Thyagarajan B, Yashin A, Wojczynski MK, Krinsky-McHale S, Handen BL, Christian BT, Head E, Mapstone ME, Schupf N, Lee JH, Barral S; Long‐Life Family Study (LLFS); Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS). Xicota L, et al. Alzheimers Dement. 2024 Apr;20(4):2670-2679. doi: 10.1002/alz.13718. Epub 2024 Feb 21. Alzheimers Dement. 2024. PMID: 38380866 Free PMC article.
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P, Gunasekaran TI, Belloy ME, Reyes-Dumeyer D, Jülich D, Tayran H, Yilmaz E, Flaherty D, Turgutalp B, Sukumar G, Alba C, McGrath EM, Hupalo DN, Bacikova D, Le Guen Y, Lantigua R, Medrano M, Rivera D, Recio P, Nuriel T, Ertekin-Taner N, Teich AF, Dickson DW, Holley S, Greicius M, Dalgard CL, Zody M, Mayeux R, Kizil C, Vardarajan BN. Bhattarai P, et al. Among authors: dickson dw. Acta Neuropathol. 2024 Apr 10;147(1):70. doi: 10.1007/s00401-024-02721-1. Acta Neuropathol. 2024. PMID: 38598053 Free PMC article.
1,360 results