Works matching IS 00068950 AND DT 2024 AND VI 147 AND IP 6

Results: 27
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    Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1996, doi. 10.1093/brain/awae073
    By:
    • Kmiecik, Matthew J;
    • Micheletti, Steven;
    • Coker, Daniella;
    • Heilbron, Karl;
    • Shi, Jingchunzi;
    • Stagaman, Keaton;
    • Sonmez, Teresa Filshtein;
    • Fontanillas, Pierre;
    • Shringarpure, Suyash;
    • Wetzel, Madeleine;
    • Rowbotham, Helen M;
    • Cannon, Paul;
    • Shelton, Janie F;
    • Hinds, David A;
    • Tung, Joyce Y;
    • Team, 23andMe Research;
    • Holmes, Michael V;
    • Aslibekyan, Stella;
    • Norcliffe-Kaufmann, Lucy
    Publication type:
    Article
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    Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer's disease.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2158, doi. 10.1093/brain/awae034
    By:
    • Yang, Hyun-Sik;
    • Yau, Wai-Ying Wendy;
    • Carlyle, Becky C;
    • Trombetta, Bianca A;
    • Zhang, Can;
    • Shirzadi, Zahra;
    • Schultz, Aaron P;
    • Pruzin, Jeremy J;
    • Fitzpatrick, Colleen D;
    • Kirn, Dylan R;
    • Rabin, Jennifer S;
    • Buckley, Rachel F;
    • Hohman, Timothy J;
    • Rentz, Dorene M;
    • Tanzi, Rudolph E;
    • Johnson, Keith A;
    • Sperling, Reisa A;
    • Arnold, Steven E;
    • Chhatwal, Jasmeer P
    Publication type:
    Article
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    Macroscopic changes in aquaporin-4 underlie blast traumatic brain injury-related impairment in glymphatic function.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2214, doi. 10.1093/brain/awae065
    By:
    • Braun, Molly;
    • Sevao, Mathew;
    • Keil, Samantha A;
    • Gino, Elizabeth;
    • Wang, Marie X;
    • Lee, Janet;
    • Haveliwala, Mariya A;
    • Klein, Emily;
    • Agarwal, Sanjana;
    • Pedersen, Taylor;
    • Rhodes, C Harker;
    • Jansson, Deidre;
    • Cook, David;
    • Peskind, Elaine;
    • Perl, Daniel P;
    • Piantino, Juan;
    • Schindler, Abigail G;
    • Iliff, Jeffrey J
    Publication type:
    Article
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    Localization of stuttering based on causal brain lesions.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2203, doi. 10.1093/brain/awae059
    By:
    • Theys, Catherine;
    • Jaakkola, Elina;
    • Melzer, Tracy R;
    • Nil, Luc F De;
    • Guenther, Frank H;
    • Cohen, Alexander L;
    • Fox, Michael D;
    • Joutsa, Juho
    Publication type:
    Article
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    Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1967, doi. 10.1093/brain/awae057
    By:
    • Blickhäuser, Beryll;
    • Stenton, Sarah L;
    • Neuhofer, Christiane M;
    • Floride, Elisa;
    • Nesbitt, Victoria;
    • Fratter, Carl;
    • Koch, Johannes;
    • Kauffmann, Birgit;
    • Catarino, Claudia;
    • Schlieben, Lea Dewi;
    • Kopajtich, Robert;
    • Carelli, Valerio;
    • Sadun, Alfredo A;
    • McFarland, Robert;
    • Fang, Fang;
    • Morgia, Chiara La;
    • Paquay, Stéphanie;
    • Nassogne, Marie Cécile;
    • Ghezzi, Daniele;
    • Lamperti, Costanza
    Publication type:
    Article
    17

    Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2085, doi. 10.1093/brain/awae055
    By:
    • Liu, James;
    • He, Yi;
    • Lwin, Cara;
    • Han, Marina;
    • Guan, Bin;
    • Naik, Amelia;
    • Bender, Chelsea;
    • Moore, Nia;
    • Huryn, Laryssa A;
    • Sergeev, Yuri V;
    • Qian, Haohua;
    • Zeng, Yong;
    • Dong, Lijin;
    • Liu, Pinghu;
    • Lei, Jingqi;
    • Haugen, Carl J;
    • Prasov, Lev;
    • Shi, Ruifang;
    • Dollfus, Hélène;
    • Aristodemou, Petros
    Publication type:
    Article
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    Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2023, doi. 10.1093/brain/awae020
    By:
    • Abela, Lucia;
    • Gianfrancesco, Lorita;
    • Tagliatti, Erica;
    • Rossignoli, Giada;
    • Barwick, Katy;
    • Zourray, Clara;
    • Reid, Kimberley M;
    • Budinger, Dimitri;
    • Ng, Joanne;
    • Counsell, John;
    • Simpson, Arlo;
    • Pearson, Toni S;
    • Edvardson, Simon;
    • Elpeleg, Orly;
    • Brodsky, Frances M;
    • Lignani, Gabriele;
    • Barral, Serena;
    • Kurian, Manju A
    Publication type:
    Article
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    Disease-linked mutations in Munc18-1 deplete synaptic Doc2.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2185, doi. 10.1093/brain/awae019
    By:
    • Guiberson, Noah Guy Lewis;
    • Black, Luca S;
    • Haller, Jillian E;
    • Brukner, Aniv;
    • Abramov, Debra;
    • Ahmad, Saad;
    • Xie, Yan Xin;
    • Sharma, Manu;
    • Burré, Jacqueline
    Publication type:
    Article
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    Toxic effects of mutant huntingtin in axons are mediated by its proline-rich domain.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2098, doi. 10.1093/brain/awad280
    By:
    • Brady, Scott T;
    • Mesnard-Hoaglin, Nichole A;
    • Mays, Sarah;
    • Priego, Mercedes;
    • Dziechciowska, Joanna;
    • Morris, Sarah;
    • Kang, Minsu;
    • Tsai, Ming Ying;
    • Purks, Jennifer L;
    • Klein, Alison;
    • Gaona, Angelica;
    • Melloni, Alexandra;
    • Connors, Theresa;
    • Hyman, Bradley;
    • Song, Yuyu;
    • Morfini, Gerardo A
    Publication type:
    Article