Works matching IS 00068950 AND DT 2024 AND VI 147 AND IP 8

Results: 33
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    Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2652, doi. 10.1093/brain/awae188
    By:
    • Westenberger, Ana;
    • Skrahina, Volha;
    • Usnich, Tatiana;
    • Beetz, Christian;
    • Vollstedt, Eva-Juliane;
    • Laabs, Björn-Hergen;
    • Paul, Jefri J;
    • Curado, Filipa;
    • Skobalj, Snezana;
    • Gaber, Hanaa;
    • Olmedillas, Maria;
    • Bogdanovic, Xenia;
    • Ameziane, Najim;
    • Schell, Nathalie;
    • Aasly, Jan Olav;
    • Afshari, Mitra;
    • Agarwal, Pinky;
    • Aldred, Jason;
    • Alonso-Frech, Fernando;
    • Anderson, Roderick
    Publication type:
    Article
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    Towards cascading genetic risk in Alzheimer's disease.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2680, doi. 10.1093/brain/awae176
    By:
    • Altmann, Andre;
    • Aksman, Leon M;
    • Oxtoby, Neil P;
    • Young, Alexandra L;
    • Alexander, Daniel C;
    • Barkhof, Frederik;
    • Shoai, Maryam;
    • Hardy, John;
    • Schott, Jonathan M
    Publication type:
    Article
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    To plan efficacious epilepsy surgery.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. e55, doi. 10.1093/brain/awae162
    By:
    • Weiss, Shennan Aibel;
    • Sperling, Michael R;
    • Engel, Jerome;
    • Staba, Richard
    Publication type:
    Article
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    Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2668, doi. 10.1093/brain/awae142
    By:
    • Cook, Lola;
    • Verbrugge, Jennifer;
    • Schwantes-An, Tae-Hwi;
    • Schulze, Jeanine;
    • Foroud, Tatiana;
    • Hall, Anne;
    • Marder, Karen S;
    • Mata, Ignacio F;
    • Mencacci, Niccolò E;
    • Nance, Martha A;
    • Schwarzschild, Michael A;
    • Simuni, Tanya;
    • Bressman, Susan;
    • Wills, Anne-Marie;
    • Fernandez, Hubert H;
    • Litvan, Irene;
    • Lyons, Kelly E;
    • Shill, Holly A;
    • Singer, Carlos;
    • Tropea, Thomas F
    Publication type:
    Article
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    De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
    By:
    • Harel, Tamar;
    • Spicher, Camille;
    • Scheer, Elisabeth;
    • Buchan, Jillian G;
    • Cech, Jennifer;
    • Folland, Chiara;
    • Frey, Tanja;
    • Holtz, Alexander M;
    • Innes, A Micheil;
    • Keren, Boris;
    • Macken, William L;
    • Marcelis, Carlo;
    • Otten, Catherine E;
    • Paolucci, Sarah A;
    • Petit, Florence;
    • Pfundt, Rolph;
    • Pitceathly, Robert D S;
    • Rauch, Anita;
    • Ravenscroft, Gianina;
    • Sanchev, Rani
    Publication type:
    Article
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    Different learning aberrations relate to delusion-like beliefs with different contents.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2854, doi. 10.1093/brain/awae122
    By:
    • Rossi-Goldthorpe, Rosa;
    • Silverstein, Steven M;
    • Gold, James M;
    • Schiffman, Jason;
    • Waltz, James A;
    • Williams, Trevor F;
    • Powers, Albert R;
    • Woods, Scott W;
    • Zinbarg, Richard E;
    • Mittal, Vijay A;
    • Ellman, Lauren M;
    • Strauss, Gregory P;
    • Walker, Elaine F;
    • Levin, Jason A;
    • Castiello, Santiago;
    • Kenney, Joshua;
    • Corlett, Philip R
    Publication type:
    Article
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    Neuronal A2A receptor exacerbates synapse loss and memory deficits in APP/PS1 mice.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2691, doi. 10.1093/brain/awae113
    By:
    • Gomez-Murcia, Victoria;
    • Launay, Agathe;
    • Carvalho, Kévin;
    • Burgard, Anaëlle;
    • Meriaux, Céline;
    • Caillierez, Raphaëlle;
    • Eddarkaoui, Sabiha;
    • Kilinc, Devrim;
    • Siedlecki-Wullich, Dolores;
    • Besegher, Mélanie;
    • Bégard, Séverine;
    • Thiroux, Bryan;
    • Jung, Matthieu;
    • Nebie, Ouada;
    • Wisztorski, Maxence;
    • Déglon, Nicole;
    • Montmasson, Claire;
    • Bemelmans, Alexis-Pierre;
    • Hamdane, Malika;
    • Lebouvier, Thibaud
    Publication type:
    Article
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    Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2791, doi. 10.1093/brain/awae121
    By:
    • Eriksson, Maria H;
    • Prentice, Freya;
    • Piper, Rory J;
    • Wagstyl, Konrad;
    • Adler, Sophie;
    • Chari, Aswin;
    • Booth, John;
    • Moeller, Friederike;
    • Das, Krishna;
    • Eltze, Christin;
    • Cooray, Gerald;
    • Caballero, Ana Perez;
    • Menzies, Lara;
    • McTague, Amy;
    • Shavel-Jessop, Sara;
    • Tisdall, Martin M;
    • Cross, J Helen;
    • Sanfilippo, Patricia Martin;
    • Baldeweg, Torsten
    Publication type:
    Article
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    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2775, doi. 10.1093/brain/awae056
    By:
    • Sidpra, Jai;
    • Sudhakar, Sniya;
    • Biswas, Asthik;
    • Massey, Flavia;
    • Turchetti, Valentina;
    • Lau, Tracy;
    • Cook, Edward;
    • Alvi, Javeria Raza;
    • Elbendary, Hasnaa M;
    • Jewell, Jerry L;
    • Riva, Antonella;
    • Orsini, Alessandro;
    • Vignoli, Aglaia;
    • Federico, Zara;
    • Rosenblum, Jessica;
    • Schoonjans, An-Sofie;
    • Wachter, Matthias de;
    • Alvarez, Ignacio Delgado;
    • Felipe-Rucián, Ana;
    • Haridy, Nourelhoda A
    Publication type:
    Article
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    Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2867, doi. 10.1093/brain/awae046
    By:
    • Iruzubieta, Pablo;
    • Damborenea, Alberto;
    • Ioghen, Mihaela;
    • Bajew, Simon;
    • Fernandez-Torrón, Roberto;
    • Töpf, Ana;
    • Herrero-Reiriz, Álvaro;
    • Epure, Diana;
    • Vill, Katharina;
    • Hernández-Laín, Aurelio;
    • Manterola, María;
    • Azkargorta, Mikel;
    • Pikatza-Menoio, Oihane;
    • Pérez-Fernandez, Laura;
    • García-Puga, Mikel;
    • Gaina, Gisela;
    • Bastian, Alexandra;
    • Streata, Ioana;
    • Walter, Maggie C;
    • Müller-Felber, Wolfgang
    Publication type:
    Article