Works matching IS 00068950 AND DT 2025 AND VI 148 AND IP 2


Results: 34
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    Plasma p-tau217 in Alzheimer's disease: Lumipulse and ALZpath SIMOA head-to-head comparison.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 408, doi. 10.1093/brain/awae368
    By:
    • Pilotto, Andrea;
    • Quaresima, Virginia;
    • Trasciatti, Chiara;
    • Tolassi, Chiara;
    • Bertoli, Diego;
    • Mordenti, Cristina;
    • Galli, Alice;
    • Rizzardi, Andrea;
    • Caratozzolo, Salvatore;
    • Zancanaro, Andrea;
    • Contador, José;
    • Hansson, Oskar;
    • Palmqvist, Sebastian;
    • Santis, Giovanni De;
    • Zetterberg, Henrik;
    • Blennow, Kaj;
    • Brugnoni, Duilio;
    • Suárez-Calvet, Marc;
    • Ashton, Nicholas J;
    • Padovani, Alessandro
    Publication type:
    Article
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    A comprehensive head-to-head comparison of key plasma phosphorylated tau 217 biomarker tests.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 416, doi. 10.1093/brain/awae346
    By:
    • Warmenhoven, Noëlle;
    • Salvadó, Gemma;
    • Janelidze, Shorena;
    • Mattsson-Carlgren, Niklas;
    • Bali, Divya;
    • Dolado, Anna Orduña;
    • Kolb, Hartmuth;
    • Triana-Baltzer, Gallen;
    • Barthélemy, Nicolas R;
    • Schindler, Suzanne E;
    • Aschenbrenner, Andrew J;
    • Raji, Cyrus A;
    • Benzinger, Tammie L S;
    • Morris, John C;
    • Ibanez, Laura;
    • Timsina, Jigyasha;
    • Cruchaga, Carlos;
    • Bateman, Randall J;
    • Ashton, Nicholas;
    • Arslan, Burak
    Publication type:
    Article
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    Neurodegenerative fluid biomarkers are enriched in human cervical lymph nodes.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 394, doi. 10.1093/brain/awae329
    By:
    • Al-Diwani, Adam;
    • Provine, Nicholas M;
    • Murchison, Andrew;
    • Laban, Rhiannon;
    • Swann, Owen J;
    • Koychev, Ivan;
    • Sheerin, Fintan;
    • Mesquita, Sandro Da;
    • Heslegrave, Amanda;
    • Zetterberg, Henrik;
    • Klenerman, Paul;
    • Irani, Sarosh R
    Publication type:
    Article
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    Amyloid-β predominant Alzheimer's disease neuropathologic change.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 401, doi. 10.1093/brain/awae325
    By:
    • Kovacs, Gabor G;
    • Katsumata, Yuriko;
    • Wu, Xian;
    • Aung, Khine Zin;
    • Fardo, David W;
    • Forrest, Shelley L;
    • Consortium, Alzheimer's Disease Genetics;
    • Nelson, Peter T
    Publication type:
    Article
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    The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 580, doi. 10.1093/brain/awae272
    By:
    • Tapken, Ines;
    • Schweitzer, Theresa;
    • Paganin, Martina;
    • Schüning, Tobias;
    • Detering, Nora T;
    • Sharma, Gaurav;
    • Niesert, Moritz;
    • Saffari, Afshin;
    • Kuhn, Daniela;
    • Glynn, Amy;
    • Cieri, Federica;
    • Santonicola, Pamela;
    • Cannet, Claire;
    • Gerstner, Florian;
    • Faller, Kiterie M E;
    • Huang, Yu-Ting;
    • Kothary, Rashmi;
    • Gillingwater, Thomas H;
    • Schiavi, Elia Di;
    • Simon, Christian M
    Publication type:
    Article
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    Blood inflammation relates to neuroinflammation and survival in frontotemporal lobar degeneration.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 493, doi. 10.1093/brain/awae269
    By:
    • Malpetti, Maura;
    • Swann, Peter;
    • Tsvetanov, Kamen A;
    • Chouliaras, Leonidas;
    • Strauss, Alexandra;
    • Chikaura, Tanatswa;
    • Murley, Alexander G;
    • Ashton, Nicholas J;
    • Barker, Peter;
    • Jones, Peter Simon;
    • Fryer, Tim D;
    • Hong, Young T;
    • Cope, Thomas E;
    • Savulich, George;
    • Street, Duncan;
    • Bevan-Jones, William Richard;
    • Rittman, Timothy;
    • Blennow, Kaj;
    • Zetterberg, Henrik;
    • Aigbirhio, Franklin I
    Publication type:
    Article
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    Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 647, doi. 10.1093/brain/awae268
    By:
    • Falabella, Micol;
    • Pizzamiglio, Chiara;
    • Tabara, Luis Carlos;
    • Munro, Benjamin;
    • Abdel-Hamid, Mohamed S;
    • Sonmezler, Ece;
    • Macken, William L;
    • Lu, Shanti;
    • Tilokani, Lisa;
    • Flannery, Padraig J;
    • Patel, Nina;
    • Pope, Simon A S;
    • Heales, Simon J R;
    • Hammadi, Dania B H;
    • Alston, Charlotte L;
    • Taylor, Robert W;
    • Lochmuller, Hanns;
    • Woodward, Cathy E;
    • Labrum, Robyn;
    • Vandrovcova, Jana
    Publication type:
    Article
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    The clinical and genetic spectrum of paediatric speech and language disorders.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 663, doi. 10.1093/brain/awae264
    By:
    • Magielski, Jan H;
    • Ruggiero, Sarah M;
    • Xian, Julie;
    • Parthasarathy, Shridhar;
    • Galer, Peter D;
    • Ganesan, Shiva;
    • Back, Amanda;
    • McKee, Jillian L;
    • McSalley, Ian;
    • Gonzalez, Alexander K;
    • Morgan, Angela;
    • Donaher, Joseph;
    • Helbig, Ingo
    Publication type:
    Article
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    Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 549, doi. 10.1093/brain/awae262
    By:
    • Bakouh, Naziha;
    • Castaño-Martín, Reyes;
    • Metais, Alice;
    • Dan, Emanuela Loredana;
    • Balducci, Estelle;
    • Chhuon, Cerina;
    • Lepicka, Joanna;
    • Barcia, Giulia;
    • Losito, Emma;
    • Lourdel, Stéphane;
    • Planelles, Gabrielle;
    • Muresan, Raul C;
    • Moca, Vasile Vlad;
    • Kaminska, Anna;
    • Bourgeois, Marie;
    • Chemaly, Nicole;
    • Rguez, Yasmine;
    • Auvin, Stéphane;
    • Huberfeld, Gilles;
    • Varlet, Pascale
    Publication type:
    Article
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    Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 564, doi. 10.1093/brain/awae243
    By:
    • Berth, Sarah H;
    • Vo, Linh;
    • Kwon, Do Hoon;
    • Grider, Tiffany;
    • Damayanti, Yasmine S;
    • Kosmanopoulos, Gage;
    • Fox, Andrew;
    • Lau, Alexander R;
    • Carr, Patrice;
    • Donohue, Jack K;
    • Hoke, Maya;
    • Thomas, Simone;
    • Karam, Chafic;
    • Fay, Alex J;
    • Meltzer, Ethan;
    • Crawford, Thomas O;
    • Gaudet, Rachelle;
    • Shy, Michael E;
    • Hellmich, Ute A;
    • Lee, Seok-Yong
    Publication type:
    Article
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    The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 597, doi. 10.1093/brain/awae183
    By:
    • Möller, Birk;
    • Becker, Lena-Luise;
    • Saffari, Afshin;
    • Afenjar, Alexandra;
    • Coci, Emanuele G;
    • Williamson, Rachel;
    • Ward-Melver, Catherine;
    • Gibaud, Marc;
    • Sedláčková, Lucie;
    • Laššuthová, Petra;
    • Libá, Zuzana;
    • Vlčková, Markéta;
    • William, Nancy;
    • Klee, Eric W;
    • Gavrilova, Ralitza H;
    • Lévy, Jonathan;
    • Capri, Yline;
    • Scavina, Mena;
    • Körner, Robert Walter;
    • Valivullah, Zaheer
    Publication type:
    Article
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