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Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Luo H, Gustavsson EK, Macpherson H, Dominik N, Zhelcheska K, Montgomery K, Anderson C, Yau WY, Efthymiou S, Turner C, DeTure M, Dickson DW, Josephs KA, Revesz T, Lashley T, Halliday G, Rowe DB, McCann E, Blair I, Lees AJ, Tienari PJ, Suomalainen A, Molina-Porcel L, Kovacs GG, Gelpi E, Hardy J, Haltia MJ, Tucci A, Jaunmuktane Z, Ryten M, Houlden H, Chen Z. Luo H, et al. Acta Neuropathol Commun. 2024 Jan 2;12(1):2. doi: 10.1186/s40478-023-01706-7. Acta Neuropathol Commun. 2024. PMID: 38167323 Free PMC article. No abstract available.
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.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
Correction to: 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. 2021 Mar;141(3):467-468. doi: 10.1007/s00401-021-02262-x. Acta Neuropathol. 2021. PMID: 33515276 Free PMC article. No abstract available.
Atypical astroglial pTDP-43 pathology in astroglial predominant tauopathy.
Gelpi E, Aldecoa I, Lopez-Villegas D, Abellan-Vidal MT, Mercadel-Fañanas P, Fortea J, Ribosa R, Morenas E, Gomez-Anson B, Molina-Porcel L, Ximelis T, Borrego S, Antonell A, Rovelet-Lecrux A, Klotz S, Andres-Benito P, Sanchez-Valle R, Ferrer I. Gelpi E, et al. Neuropathol Appl Neurobiol. 2021 Dec;47(7):1109-1113. doi: 10.1111/nan.12707. Epub 2021 Apr 2. Neuropathol Appl Neurobiol. 2021. PMID: 33730418 Free PMC article.
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.
Evolution of Clinical-Pathological Correlations in Early-Onset Alzheimer's Disease Over a 25-Year Period in an Academic Brain Bank.
Sarto J, Mayà G, Molina-Porcel L, Balasa M, Gelpi E, Aldecoa I, Borrego-Écija S, Contador J, Ximelis T, Vergara M, Antonell A, Sánchez-Valle R, Lladó A; Neurological Tissue Bank, Biobanc-Hospital Clínic Barcelona-IDIBAPS Collaborative Group. Sarto J, et al. J Alzheimers Dis. 2022;87(4):1659-1669. doi: 10.3233/JAD-220045. J Alzheimers Dis. 2022. PMID: 35723108
Sporadic Creutzfeldt-Jakob disease VM1: phenotypic and molecular characterization of a novel subtype of human prion disease.
Gelpi E, Baiardi S, Nos C, Dellavalle S, Aldecoa I, Ruiz-Garcia R, Ispierto L, Escudero D, Casado V, Barranco E, Boltes A, Molina-Porcel L, Bargalló N, Rossi M, Mammana A, Tiple D, Vaianella L, Stoegmann E, Simonitsch-Klupp I, Kasprian G, Klotz S, Höftberger R, Budka H, Kovacs GG, Ferrer I, Capellari S, Sanchez-Valle R, Parchi P. Gelpi E, et al. Acta Neuropathol Commun. 2022 Aug 17;10(1):114. doi: 10.1186/s40478-022-01415-7. Acta Neuropathol Commun. 2022. PMID: 35978418 Free PMC article.
76 results