Works in Brain: A Journal of Neurology, 2025, Vol 148, Issue 8

Results: 41
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    Interferon-γ causes myogenic cell dysfunction and senescence in immune myopathies.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2883, doi. 10.1093/brain/awaf153
    By:
    • Hou, Cyrielle;
    • Periou, Baptiste;
    • Gervais, Marianne;
    • Martin, Ludovic;
    • Berthier, Juliette;
    • Baba-Amer, Yasmine;
    • Souvannanorath, Sarah;
    • Lechapt-Zalcman, Emmanuele;
    • Malfatti, Edoardo;
    • Gherardi, Romain K;
    • Relaix, Fréderic;
    • Bencze, Maximilien;
    • Authier, François-Jérôme
    Publication type:
    Article
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    Biomarker evidence of neurodegeneration in mid-life former rugby players Open Access.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2684, doi. 10.1093/brain/awaf152
    By:
    • Graham, Neil S N;
    • Zimmerman, Karl A;
    • Hain, Jessica;
    • Rooney, Erin;
    • Lee, Ying;
    • Giovane, Martina Del;
    • Parker, Thomas;
    • Wilson, Mathew G;
    • Malhotra, Paresh;
    • David, Michael C B;
    • Kolanko, Magdalena;
    • Patel, Maneesh;
    • Veleva, Elena;
    • Swann, Owen;
    • Heslegrave, Amanda;
    • Zetterberg, Henrik;
    • Friedland, Daniel;
    • Sylvester, Richard;
    • Sharp, David J
    Publication type:
    Article
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    Markers of axonal injury in blood and tissue triggered by acute and chronic demyelination Open Access.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 3011, doi. 10.1093/brain/awaf144
    By:
    • Abdelhak, Ahmed;
    • Cordano, Christian;
    • Duncan, Greg J;
    • Emberley, Katie;
    • Nocera, Sonia;
    • Xin, Wendy;
    • Ananth, Kirtana;
    • Jabassini, Nour;
    • Ning, Kiarra;
    • Reinsberg, Henriette;
    • Oertel, Frederike Cosima;
    • Beaudry-Richard, Alexandra;
    • Kuhle, Jens;
    • Petzold, Axel;
    • Patel, Praveen J;
    • Reis, Ana P Ribeiro;
    • Foster, Paul J;
    • Watkins, Trent;
    • Chan, Jonah R;
    • Emery, Ben
    Publication type:
    Article
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    Abreaction: a humble suggestion.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2595, doi. 10.1093/brain/awaf142
    By:
    • Poole, Norman A
    Publication type:
    Article
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    PACAP and migraine.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2646, doi. 10.1093/brain/awaf131
    By:
    • Diener, Hans Christoph
    Publication type:
    Article
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    Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111
    By:
    • Hengel, Holger;
    • Hannan, Shabab B;
    • Reich, Selina;
    • Beijer, Danique;
    • Roller, Johanna;
    • Gilsbach, Bernd K;
    • Gloeckner, Christian Johannes;
    • Greene, Daniel;
    • Timmann, Dagmar;
    • Depienne, Christel;
    • Mumford, Andrew;
    • O'Driscoll, Mary;
    • Nemeth, Andrea H;
    • Lundberg, Julie;
    • Rodan, Lance H;
    • Bruel, Ange-Line;
    • Delanne, Julian;
    • Deconinck, Tine;
    • Baets, Jonathan;
    • Gan-Or, Ziv
    Publication type:
    Article
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    Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2714, doi. 10.1093/brain/awaf106
    By:
    • Phillips, Jared M;
    • Dumitrescu, Logan C;
    • Archer, Derek B;
    • Regelson, Alexandra N;
    • Mukherjee, Shubhabrata;
    • Lee, Michael L;
    • Choi, Seo-Eun;
    • Scollard, Phoebe;
    • Trittschuh, Emily H;
    • Kukull, Walter A;
    • Biber, Sarah;
    • Mez, Jesse;
    • Mahoney, Emily R;
    • Clifton, Michelle;
    • Libby, Julia B;
    • Walters, Skylar;
    • Bush, William S;
    • Engelman, Corinne D;
    • Lu, Qiongshi;
    • Fardo, David W
    Publication type:
    Article
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    Genome-wide association study of neuropathological features in Lewy body disease.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2785, doi. 10.1093/brain/awaf105
    By:
    • Valentino, Rebecca R;
    • Koga, Shunsuke;
    • Soto-Beasley, Alexandra I;
    • Ono, Daisuke;
    • Wieczorek, Mikolaj A;
    • Johnson, Patrick W;
    • White, Launia J;
    • Watkins, Molly M;
    • Murray, Melissa E;
    • Kasanuki, Koji;
    • McLean, Pamela J;
    • Springer, Wolfdieter;
    • Uitti, Ryan J;
    • Fields, Julie A;
    • Botha, Hugo;
    • Ramanan, Vijay K;
    • Kantarci, Kejal;
    • Lowe, Val J;
    • Jack, Clifford R;
    • Bras, Jose
    Publication type:
    Article
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    Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2797, doi. 10.1093/brain/awaf074
    By:
    • Simon, Christian M;
    • Delestrée, Nicolas;
    • Montes, Jacqueline;
    • Sowoidnich, Leonie;
    • Gerstner, Florian;
    • Carranza, Erick;
    • Buettner, Jannik M;
    • Pagiazitis, John G;
    • Prat-Ortega, Genis;
    • Ensel, Scott;
    • Donadio, Serena;
    • Dreilich, Vanessa;
    • Carlini, Maria J;
    • Garcia, Jose L;
    • Kratimenos, Panagiotis;
    • Chung, Wendy K;
    • Sumner, Charlotte J;
    • Weimer, Louis H;
    • Pirondini, Elvira;
    • Capogrosso, Marco
    Publication type:
    Article
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    Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2869, doi. 10.1093/brain/awaf067
    By:
    • Malaichamy, Sivasankar;
    • Idoux, Romane;
    • Polavarapu, Kiran;
    • Šikić, Katarina;
    • Holla, Elisa;
    • Thompson, Rachel;
    • Spendiff, Sally;
    • Schänzer, Anne;
    • Küsters, Benno;
    • Freeman, Emily;
    • Hentschel, Andreas;
    • O'Neil, Daniel;
    • Carmona-Martinez, Ricardo;
    • Dobelmann, Vera;
    • Tucht, Calvin;
    • Schouten, Meyke;
    • Ruck, Tobias;
    • Schara-Schmidt, Ulrike;
    • Kamsteeg, Erik-Jan;
    • Ramadža, Danijela Petković
    Publication type:
    Article
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    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Open Access.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2827, doi. 10.1093/brain/awaf059
    By:
    • Zech, Michael;
    • Dzinovic, Ivana;
    • Skorvanek, Matej;
    • Harrer, Philip;
    • Necpal, Jan;
    • Kopajtich, Robert;
    • Kittke, Volker;
    • Tilch, Erik;
    • Zhao, Chen;
    • Tsoma, Eugenia;
    • Sorrentino, Ugo;
    • Indelicato, Elisabetta;
    • Stehr, Antonia;
    • Saparov, Alice;
    • Abela, Lucia;
    • Adamovicova, Miriam;
    • Afenjar, Alexandra;
    • Assmann, Birgit;
    • Baloghova, Janette;
    • Baumann, Matthias
    Publication type:
    Article
    38

    De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2658, doi. 10.1093/brain/awaf035
    By:
    • Booth, Kevin T A;
    • Jangam, Sharayu V;
    • Chui, Martin M C;
    • Treat, Kayla;
    • Graziani, Lorenzo;
    • Soldano, Alessia;
    • Ruan, Yao;
    • Hui, Jeffrey Wan-Hei;
    • White, Kerry;
    • Christensen, Celanie K;
    • Lynnes, Ty;
    • Yamamoto, Shinya;
    • Kanca, Oguz;
    • Tsang, Mandy H Y;
    • Lynch, Sally A;
    • Mullegama, Sureni V;
    • Baptista, Julia;
    • Iancu, Daniela;
    • Joss, Shelagh K;
    • Wong, Sandra Y Y
    Publication type:
    Article
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    Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study Open Access.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2746, doi. 10.1093/brain/awaf019
    By:
    • Mirza, Saira S;
    • Pasternak, Maurice;
    • Paterson, Andrew D;
    • Rogaeva, Ekaterina;
    • Tartaglia, Maria C;
    • Mitchell, Sara B;
    • Black, Sandra E;
    • Freedman, Morris;
    • Tang-Wai, David;
    • Bouzigues, Arabella;
    • Russell, Lucy L;
    • Foster, Phoebe H;
    • Ferry-Bolder, Eve;
    • Bocchetta, Martina;
    • Cash, David M;
    • Zetterberg, Henrik;
    • Sogorb-Esteve, Aitana;
    • Swieten, John van;
    • Jiskoot, Lize C;
    • Seelaar, Harro
    Publication type:
    Article
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