Works matching IS 00068950 AND DT 2023 AND VI 146 AND IP 8

Results: 44
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    Lost in translation.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3103, doi. 10.1093/brain/awad144
    By:
    • Millard, Lee;
    • Setters, David;
    • Waters, Nicola;
    • Moss, Emma;
    • QPM, Chris Johnson
    Publication type:
    Article
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    Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3444, doi. 10.1093/brain/awad146
    By:
    • Passchier, Emma M J;
    • Kerst, Sven;
    • Brouwers, Eelke;
    • Hamilton, Eline M C;
    • Bisseling, Quinty;
    • Bugiani, Marianna;
    • Waisfisz, Quinten;
    • Kitchen, Philip;
    • Unger, Lucas;
    • Breur, Marjolein;
    • Hoogterp, Leoni;
    • Vries, Sharon I de;
    • Abbink, Truus E M;
    • Kole, Maarten H P;
    • Leurs, Rob;
    • Vischer, Henry F;
    • Brignone, Maria S;
    • Ambrosini, Elena;
    • Feillet, François;
    • Born, Alfred P
    Publication type:
    Article
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    Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3162, doi. 10.1093/brain/awad124
    By:
    • Calame, Daniel G;
    • Vadillo, Cristina Moreno;
    • Berger, Seth;
    • Lotze, Timothy;
    • Shinawi, Marwan;
    • Poupak, Javaher;
    • Heller, Corina;
    • Cohen, Julie;
    • Person, Richard;
    • Telegrafi, Aida;
    • Phitsanuwong, Chalongchai;
    • Fiala, Kaylene;
    • Thiffault, Isabelle;
    • Viso, Florencia Del;
    • Zhou, Dihong;
    • Fleming, Emily A;
    • Pastinen, Tomi;
    • Fatemi, Ali;
    • Thomas, Sruthi;
    • Pascual, Samuel I
    Publication type:
    Article
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    Age-related and amyloid-beta-independent tau deposition and its downstream effects.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3192, doi. 10.1093/brain/awad135
    By:
    • Wuestefeld, Anika;
    • Binette, Alexa Pichet;
    • Berron, David;
    • Spotorno, Nicola;
    • Westen, Danielle van;
    • Stomrud, Erik;
    • Mattsson-Carlgren, Niklas;
    • Strandberg, Olof;
    • Smith, Ruben;
    • Palmqvist, Sebastian;
    • Glenn, Trevor;
    • Moes, Svenja;
    • Honer, Michael;
    • Arfanakis, Konstantinos;
    • Barnes, Lisa L;
    • Bennett, David A;
    • Schneider, Julie A;
    • Wisse, Laura E M;
    • Hansson, Oskar
    Publication type:
    Article
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    The anatomy of neuroepithelial tumours.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3133, doi. 10.1093/brain/awad138
    By:
    • Akeret, Kevin;
    • Weller, Michael;
    • Krayenbühl, Niklaus
    Publication type:
    Article
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    A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3513, doi. 10.1093/brain/awad086
    By:
    • Misceo, Doriana;
    • Lirussi, Lisa;
    • Strømme, Petter;
    • Sumathipala, Dulika;
    • Guerin, Andrea;
    • Wolf, Nicole I;
    • Server, Andres;
    • Stensland, Maria;
    • Dalhus, Bjørn;
    • Tolun, Aslıhan;
    • Kroes, Hester Y;
    • Nyman, Tuula A;
    • Nilsen, Hilde L;
    • Frengen, Eirik
    Publication type:
    Article
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    The spinal cord injury-induced immune deficiency syndrome: results of the SCIentinel study.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3500, doi. 10.1093/brain/awad092
    By:
    • Kopp, Marcel A;
    • Meisel, Christian;
    • Liebscher, Thomas;
    • Watzlawick, Ralf;
    • Cinelli, Paolo;
    • Schweizerhof, Oliver;
    • Blex, Christian;
    • Lübstorf, Tom;
    • Prilipp, Erik;
    • Niedeggen, Andreas;
    • Druschel, Claudia;
    • Schaser, Klaus-Dieter;
    • Wanner, Guido A;
    • Curt, Armin;
    • Lindemann, Gertraut;
    • Nugeva, Natalia;
    • Fehlings, Michael G;
    • Vajkoczy, Peter;
    • Cabraja, Mario;
    • Dengler, Julius
    Publication type:
    Article
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    Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3232, doi. 10.1093/brain/awad105
    By:
    • Street, Duncan;
    • Jabbari, Edwin;
    • Costantini, Alyssa;
    • Jones, P Simon;
    • Holland, Negin;
    • Rittman, Timothy;
    • Jensen, Marte T;
    • Chelban, Viorica;
    • Goh, Yen Y;
    • Guo, Tong;
    • Heslegrave, Amanda J;
    • Roncaroli, Federico;
    • Klein, Johannes C;
    • Ansorge, Olaf;
    • Allinson, Kieren S J;
    • Jaunmuktane, Zane;
    • Revesz, Tamas;
    • Warner, Thomas T;
    • Lees, Andrew J;
    • Zetterberg, Henrik
    Publication type:
    Article
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    Multimodal mapping of regional brain vulnerability to focal cortical dysplasia.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3404, doi. 10.1093/brain/awad060
    By:
    • Lee, Hyo M;
    • Hong, Seok-Jun;
    • Gill, Ravnoor;
    • Caldairou, Benoit;
    • Wang, Irene;
    • Zhang, Jian-guo;
    • Deleo, Francesco;
    • Schrader, Dewi;
    • Bartolomei, Fabrice;
    • Guye, Maxime;
    • Cho, Kyoo Ho;
    • Barba, Carmen;
    • Sisodiya, Sanjay;
    • Jackson, Graeme;
    • Hogan, R Edward;
    • Wong-Kisiel, Lily;
    • Cascino, Gregory D;
    • Schulze-Bonhage, Andreas;
    • Lopes-Cendes, Iscia;
    • Cendes, Fernando
    Publication type:
    Article
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    Progression of clinical markers in prodromal Parkinson's disease and dementia with Lewy bodies: a multicentre study.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3258, doi. 10.1093/brain/awad072
    By:
    • Joza, Stephen;
    • Hu, Michele T;
    • Jung, Ki-Young;
    • Kunz, Dieter;
    • Stefani, Ambra;
    • Dušek, Petr;
    • Terzaghi, Michele;
    • Arnaldi, Dario;
    • Videnovic, Aleksandar;
    • Schiess, Mya C;
    • Hermann, Wiebke;
    • Lee, Jee-Young;
    • Ferini-Strambi, Luigi;
    • Lewis, Simon J G;
    • Leclair-Visonneau, Laurène;
    • Oertel, Wolfgang H;
    • Antelmi, Elena;
    • Sixel-Döring, Friederike;
    • Cock, Valérie Cochen De;
    • Liguori, Claudio
    Publication type:
    Article
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    Impaired dopamine release in Parkinson's disease.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3117, doi. 10.1093/brain/awad064
    By:
    • Cramb, Kaitlyn M L;
    • Beccano-Kelly, Dayne;
    • Cragg, Stephanie J;
    • Wade-Martins, Richard
    Publication type:
    Article
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    The radiologically isolated syndrome: revised diagnostic criteria.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3431, doi. 10.1093/brain/awad073
    By:
    • Lebrun-Frénay, Christine;
    • Okuda, Darin T;
    • Siva, Aksel;
    • Landes-Chateau, Cassandre;
    • Azevedo, Christina J;
    • Mondot, Lydiane;
    • Carra-Dallière, Clarisse;
    • Zephir, Helene;
    • Louapre, Celine;
    • Durand-Dubief, Françoise;
    • Page, Emmanuelle Le;
    • Bensa, Caroline;
    • Ruet, Aurélie;
    • Ciron, Jonathan;
    • Laplaud, David A;
    • Casez, Olivier;
    • Mathey, Guillaume;
    • Seze, Jerome de;
    • Zeydan, Burcu;
    • Makhani, Naila
    Publication type:
    Article
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    GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3373, doi. 10.1093/brain/awad058
    By:
    • Fan, Yu;
    • Li, Meng-jie;
    • Yang, Jing;
    • Li, Shuang-jie;
    • Hao, Xiao-yan;
    • Li, Jia-di;
    • Wang, Yun-chao;
    • Tang, Mi-bo;
    • Zhang, Chan;
    • Shi, Jing-jing;
    • Ma, Dong-rui;
    • Guo, Meng-nan;
    • Liu, Fen;
    • Shen, Si;
    • Yao, Da-bao;
    • Zuo, Chun-yan;
    • Mao, Cheng-yuan;
    • Hu, Zheng-wei;
    • Zhang, Shuo;
    • Yang, Zhi-hua
    Publication type:
    Article
    38

    Mitochondrial function-associated genes underlie cortical atrophy in prodromal synucleinopathies.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3301, doi. 10.1093/brain/awad044
    By:
    • Rahayel, Shady;
    • Tremblay, Christina;
    • Vo, Andrew;
    • Misic, Bratislav;
    • Lehéricy, Stéphane;
    • Arnulf, Isabelle;
    • Vidailhet, Marie;
    • Corvol, Jean-Christophe;
    • Group, the ICEBERG Study;
    • Gagnon, Jean-François;
    • Postuma, Ronald B;
    • Montplaisir, Jacques;
    • Lewis, Simon;
    • Matar, Elie;
    • Martens, Kaylena Ehgoetz;
    • Borghammer, Per;
    • Knudsen, Karoline;
    • Hansen, Allan K;
    • Monchi, Oury;
    • Gan-Or, Ziv
    Publication type:
    Article
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    The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3273, doi. 10.1093/brain/awad039
    By:
    • Saffari, Afshin;
    • Lau, Tracy;
    • Tajsharghi, Homa;
    • Karimiani, Ehsan Ghayoor;
    • Kariminejad, Ariana;
    • Efthymiou, Stephanie;
    • Zifarelli, Giovanni;
    • Sultan, Tipu;
    • Toosi, Mehran Beiraghi;
    • Sedighzadeh, Sahar;
    • Siu, Victoria Mok;
    • Ortigoza-Escobar, Juan Darío;
    • AlShamsi, Aisha M;
    • Ibrahim, Shahnaz;
    • Al-Sannaa, Nouriya Abbas;
    • Al-Hertani, Walla;
    • Sandra, Whalen;
    • Tarnopolsky, Mark;
    • Alavi, Shahryar;
    • Li, Chumei
    Publication type:
    Article
    41

    Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3392, doi. 10.1093/brain/awad038
    By:
    • Karadag, Naz;
    • Shadrin, Alexey A;
    • O'Connell, Kevin S;
    • Hindley, Guy F L;
    • Rahman, Zillur;
    • Parker, Nadine;
    • Bahrami, Shahram;
    • Fominykh, Vera;
    • Cheng, Weiqiu;
    • Holen, Børge;
    • Alvestad, Silje;
    • Taubøll, Erik;
    • Steen, Nils Eiel;
    • Djurovic, Srdjan;
    • Dale, Anders M;
    • Frei, Oleksandr;
    • Andreassen, Ole A;
    • Smeland, Olav B
    Publication type:
    Article
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    Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3470, doi. 10.1093/brain/awac453
    By:
    • Jacquier, Arnaud;
    • Theuriet, Julian;
    • Fontaine, Fanny;
    • Mosbach, Valentine;
    • Lacoste, Nicolas;
    • Ribault, Shams;
    • Risson, Valérie;
    • Carras, Julien;
    • Coudert, Laurent;
    • Simonet, Thomas;
    • Latour, Philippe;
    • Stojkovic, Tanya;
    • Piard, Juliette;
    • Cosson, Anne;
    • Lesca, Gaëtan;
    • Bouhour, Françoise;
    • Allouche, Stéphane;
    • Puccio, Hélène;
    • Pegat, Antoine;
    • Schaeffer, Laurent
    Publication type:
    Article
    44

    SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3528, doi. 10.1093/brain/awad033
    By:
    • Smits, Daphne J;
    • Schot, Rachel;
    • Krusy, Nathalie;
    • Wiegmann, Katja;
    • Utermöhlen, Olaf;
    • Mulder, Monique T;
    • Hoedt, Sandra den;
    • Yoon, Grace;
    • Deshwar, Ashish R;
    • Kresge, Christina;
    • Pletcher, Beth;
    • Mook, Maura van;
    • Ferreira, Marta Serio;
    • Poot, Raymond A;
    • Slotman, Johan A;
    • Kremers, Gert-Jan;
    • Ahmad, Abeer;
    • Albash, Buthaina;
    • Bastaki, Laila;
    • Marafi, Dana
    Publication type:
    Article