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Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state.
Smajić S, Prada-Medina CA, Landoulsi Z, Ghelfi J, Delcambre S, Dietrich C, Jarazo J, Henck J, Balachandran S, Pachchek S, Morris CM, Antony P, Timmermann B, Sauer S, Pereira SL, Schwamborn JC, May P, Grünewald A, Spielmann M. Smajić S, et al. Among authors: may p. Brain. 2022 Apr 29;145(3):964-978. doi: 10.1093/brain/awab446. Brain. 2022. PMID: 34919646 Free PMC article.
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.
Hartl D, May P, Gu W, Mayhaus M, Pichler S, Spaniol C, Glaab E, Bobbili DR, Antony P, Koegelsberger S, Kurz A, Grimmer T, Morgan K, Vardarajan BN, Reitz C, Hardy J, Bras J, Guerreiro R, Balling R, Schneider JG, Riemenschneider M; AESG. Hartl D, et al. Among authors: may p. Mol Psychiatry. 2020 Mar;25(3):629-639. doi: 10.1038/s41380-018-0091-8. Epub 2018 Jul 9. Mol Psychiatry. 2020. PMID: 29988083 Free PMC article.
Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease.
Grossmann D, Berenguer-Escuder C, Bellet ME, Scheibner D, Bohler J, Massart F, Rapaport D, Skupin A, Fouquier d'Hérouël A, Sharma M, Ghelfi J, Raković A, Lichtner P, Antony P, Glaab E, May P, Dimmer KS, Fitzgerald JC, Grünewald A, Krüger R. Grossmann D, et al. Among authors: may p. Antioxid Redox Signal. 2019 Dec 1;31(16):1213-1234. doi: 10.1089/ars.2018.7718. Epub 2019 Aug 21. Antioxid Redox Signal. 2019. PMID: 31303019 Free PMC article.
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R. Boussaad I, et al. Among authors: may c, may p. Sci Transl Med. 2020 Sep 9;12(560):eaau3960. doi: 10.1126/scitranslmed.aau3960. Sci Transl Med. 2020. PMID: 32908004
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serra… See abstract for full author list ➔ Chia R, et al. Among authors: may p. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
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1,477 results