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Tau deposition patterns are associated with functional connectivity in primary tauopathies.
Franzmeier N, Brendel M, Beyer L, Slemann L, Kovacs GG, Arzberger T, Kurz C, Respondek G, Lukic MJ, Biel D, Rubinski A, Frontzkowski L, Hummel S, Müller A, Finze A, Palleis C, Joseph E, Weidinger E, Katzdobler S, Song M, Biechele G, Kern M, Scheifele M, Rauchmann BS, Perneczky R, Rullman M, Patt M, Schildan A, Barthel H, Sabri O, Rumpf JJ, Schroeter ML, Classen J, Villemagne V, Seibyl J, Stephens AW, Lee EB, Coughlin DG, Giese A, Grossman M, McMillan CT, Gelpi E, Molina-Porcel L, Compta Y, van Swieten JC, Laat LD, Troakes C, Al-Sarraj S, Robinson JL, Xie SX, Irwin DJ, Roeber S, Herms J, Simons M, Bartenstein P, Lee VM, Trojanowski JQ, Levin J, Höglinger G, Ewers M. Franzmeier N, et al. Nat Commun. 2022 Mar 15;13(1):1362. doi: 10.1038/s41467-022-28896-3. Nat Commun. 2022. PMID: 35292638 Free PMC article.
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.
Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, McCluskey L, Irwin DJ, Grossman M, Molina-Porcel L, Lee VM, Trojanowski JQ. Brettschneider J, et al. Acta Neuropathol. 2012 Jun;123(6):825-39. doi: 10.1007/s00401-012-0970-z. Epub 2012 Mar 18. Acta Neuropathol. 2012. PMID: 22426854 Free PMC article.
Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation.
Daude N, Kim C, Kang SG, Eskandari-Sedighi G, Haldiman T, Yang J, Fleck SC, Gomez-Cardona E, Han ZZ, Borrego-Ecija S, Wohlgemuth S, Julien O, Wille H, Molina-Porcel L, Gelpi E, Safar JG, Westaway D. Daude N, et al. Acta Neuropathol. 2020 Jun;139(6):1045-1070. doi: 10.1007/s00401-020-02148-4. Epub 2020 Mar 26. Acta Neuropathol. 2020. PMID: 32219515 Free PMC article.
Association of PSP phenotypes with survival: A brain-bank study.
Guasp M, Molina-Porcel L, Painous C, Caballol N, Camara A, Perez-Soriano A, Sánchez-Gómez A, Garrido A, Muñoz E, Marti MJ, Valldeoriola F, Grau O, Gelpí E, Respondek G, Höglinger GH, Compta Y. Guasp M, et al. Parkinsonism Relat Disord. 2021 Mar;84:77-81. doi: 10.1016/j.parkreldis.2021.01.015. Epub 2021 Feb 2. Parkinsonism Relat Disord. 2021. PMID: 33581485
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grün… See abstract for full author list ➔ de Rojas I, et al. Nat Commun. 2021 Jun 7;12(1):3417. doi: 10.1038/s41467-021-22491-8. Nat Commun. 2021. PMID: 34099642 Free PMC article.
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