Works matching IS 00068950 AND DT 2023 AND VI 146 AND IP 12

Results: 44
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    Delineating clinical and developmental outcomes in STXBP1-related disorders.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5182, doi. 10.1093/brain/awad287
    By:
    • Xian, Julie;
    • Thalwitzer, Kim Marie;
    • McKee, Jillian;
    • Sullivan, Katie Rose;
    • Brimble, Elise;
    • Fitch, Eryn;
    • Toib, Jonathan;
    • Kaufman, Michael C;
    • deCampo, Danielle;
    • Cunningham, Kristin;
    • Pierce, Samuel R;
    • Goss, James;
    • Rigby, Charlene Son;
    • Syrbe, Steffen;
    • Boland, Michael;
    • Prosser, Benjamin;
    • Fitter, Nasha;
    • Ruggiero, Sarah M;
    • Helbig, Ingo
    Publication type:
    Article
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    Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4880, doi. 10.1093/brain/awad328
    By:
    • Lischka, Annette;
    • Eggermann, Katja;
    • Record, Christopher J;
    • Dohrn, Maike F;
    • Laššuthová, Petra;
    • Kraft, Florian;
    • Begemann, Matthias;
    • Dey, Daniela;
    • Eggermann, Thomas;
    • Beijer, Danique;
    • Šoukalová, Jana;
    • Laura, Matilde;
    • Rossor, Alexander M;
    • Mazanec, Radim;
    • Lent, Jonas Van;
    • Tomaselli, Pedro J;
    • Ungelenk, Martin;
    • Debus, Karlien Y;
    • Feely, Shawna M E;
    • Gläser, Dieter
    Publication type:
    Article
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    Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5086, doi. 10.1093/brain/awad314
    By:
    • Morgan, Angela T;
    • Scerri, Thomas S;
    • Vogel, Adam P;
    • Reid, Christopher A;
    • Quach, Mara;
    • Jackson, Victoria E;
    • McKenzie, Chaseley;
    • Burrows, Emma L;
    • Bennett, Mark F;
    • Turner, Samantha J;
    • Reilly, Sheena;
    • Horton, Sarah E;
    • Block, Susan;
    • Kefalianos, Elaina;
    • Frigerio-Domingues, Carlos;
    • Sainz, Eduardo;
    • Rigbye, Kristin A;
    • Featherby, Travis J;
    • Richards, Kay L;
    • Kueh, Andrew
    Publication type:
    Article
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    Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5044, doi. 10.1093/brain/awad266
    By:
    • Garcia-Moreno, Hector;
    • Langbehn, Douglas R;
    • Abiona, Adesoji;
    • Garrood, Isabel;
    • Fleszar, Zofia;
    • Manes, Marta Antonia;
    • Morley, Ana M Susana;
    • Craythorne, Emma;
    • Mohammed, Shehla;
    • Henshaw, Tanya;
    • Turner, Sally;
    • Naik, Harsha;
    • Bodi, Istvan;
    • Sarkany, Robert P E;
    • Fassihi, Hiva;
    • Lehmann, Alan R;
    • Giunti, Paola
    Publication type:
    Article
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    SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5198, doi. 10.1093/brain/awad292
    By:
    • Stefanski, Arthur;
    • Pérez-Palma, Eduardo;
    • Brünger, Tobias;
    • Montanucci, Ludovica;
    • Gati, Cornelius;
    • Klöckner, Chiara;
    • Johannesen, Katrine M;
    • Goodspeed, Kimberly;
    • Macnee, Marie;
    • Deng, Alexander T;
    • Aledo-Serrano, Ángel;
    • Borovikov, Artem;
    • Kava, Maina;
    • Bouman, Arjan M;
    • Hajianpour, M J;
    • Pal, Deb K;
    • Engelen, Marc;
    • Hagebeuk, Eveline E O;
    • Shinawi, Marwan;
    • Heidlebaugh, Alexis R
    Publication type:
    Article
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    Neuromelanin accumulation drives endogenous synucleinopathy in non-human primates.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5000, doi. 10.1093/brain/awad331
    By:
    • Chocarro, Julia;
    • Rico, Alberto J;
    • Ariznabarreta, Goiaz;
    • Roda, Elvira;
    • Honrubia, Adriana;
    • Collantes, María;
    • Peñuelas, Iván;
    • Vázquez, Alfonso;
    • Rodríguez-Pérez, Ana I;
    • Labandeira-García, José L;
    • Vila, Miquel;
    • Lanciego, José L
    Publication type:
    Article
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    Microbiota from Alzheimer's patients induce deficits in cognition and hippocampal neurogenesis.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4916, doi. 10.1093/brain/awad303
    By:
    • Grabrucker, Stefanie;
    • Marizzoni, Moira;
    • Silajdžić, Edina;
    • Lopizzo, Nicola;
    • Mombelli, Elisa;
    • Nicolas, Sarah;
    • Dohm-Hansen, Sebastian;
    • Scassellati, Catia;
    • Moretti, Davide Vito;
    • Rosa, Melissa;
    • Hoffmann, Karina;
    • Cryan, John F;
    • O'Leary, Olivia F;
    • English, Jane A;
    • Lavelle, Aonghus;
    • O'Neill, Cora;
    • Thuret, Sandrine;
    • Cattaneo, Annamaria;
    • Nolan, Yvonne M
    Publication type:
    Article
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    Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5235, doi. 10.1093/brain/awad256
    By:
    • Mavillard, Fabiola;
    • Servian-Morilla, Emilia;
    • Dofash, Lein;
    • Rojas-Marcos, Iñigo;
    • Folland, Chiara;
    • Monahan, Gavin;
    • Gutierrez-Gutierrez, Gerardo;
    • Rivas, Eloy;
    • Hernández-Lain, Aurelio;
    • Valladares, Amador;
    • Cantero, Gloria;
    • Morales, Jose M;
    • Laing, Nigel G;
    • Paradas, Carmen;
    • Ravenscroft, Gianina;
    • Cabrera-Serrano, Macarena
    Publication type:
    Article
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    Restoring neuronal chloride extrusion reverses cognitive decline linked to Alzheimer's disease mutations.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4903, doi. 10.1093/brain/awad250
    By:
    • Keramidis, Iason;
    • McAllister, Brendan B;
    • Bourbonnais, Julien;
    • Wang, Feng;
    • Isabel, Dominique;
    • Rezaei, Edris;
    • Sansonetti, Romain;
    • Degagne, Phil;
    • Hamel, Justin P;
    • Nazari, Mojtaba;
    • Inayat, Samsoon;
    • Dudley, Jordan C;
    • Barbeau, Annie;
    • Froux, Lionel;
    • Paquet, Marie-Eve;
    • Godin, Antoine G;
    • Mohajerani, Majid H;
    • Koninck, Yves De
    Publication type:
    Article
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    Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5031, doi. 10.1093/brain/awad257
    By:
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Cali, Elisa;
    • Zamani, Mina;
    • Zaki, Maha S;
    • Ferla, Matteo;
    • Tortora, Domenico;
    • Sadeghian, Saeid;
    • Saadi, Saadia Maryam;
    • Abdullah, Uzma;
    • Karimiani, Ehsan Ghayoor;
    • Efthymiou, Stephanie;
    • Yeşil, Gözde;
    • Alavi, Shahryar;
    • Shamsi, Aisha M Al;
    • Tajsharghi, Homa;
    • Abdel-Hamid, Mohamed S;
    • Saadi, Nebal Waill;
    • Mutairi, Fuad Al;
    • Alabdi, Lama
    Publication type:
    Article
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    Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5070, doi. 10.1093/brain/awad249
    By:
    • Michell-Robinson, Mackenzie A;
    • Watt, Kristin E N;
    • Grouza, Vladimir;
    • Macintosh, Julia;
    • Pinard, Maxime;
    • Tuznik, Marius;
    • Chen, Xiaoru;
    • Darbelli, Lama;
    • Wu, Chia-Lun;
    • Perrier, Stefanie;
    • Chitsaz, Daryan;
    • Uccelli, Nonthué A;
    • Liu, Hanwen;
    • Cox, Timothy C;
    • Müller, Christoph W;
    • Kennedy, Timothy E;
    • Coulombe, Benoit;
    • Rudko, David A;
    • Trainor, Paul A;
    • Bernard, Geneviève
    Publication type:
    Article
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    Neuromuscular disease genetics in under-represented populations: increasing data diversity.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5098, doi. 10.1093/brain/awad254
    By:
    • Wilson, Lindsay A;
    • Macken, William L;
    • Perry, Luke D;
    • Record, Christopher J;
    • Schon, Katherine R;
    • Frezatti, Rodrigo S S;
    • Raga, Sharika;
    • Naidu, Kireshnee;
    • Köken, Özlem Yayıcı;
    • Polat, Ipek;
    • Kapapa, Musambo M;
    • Dominik, Natalia;
    • Efthymiou, Stephanie;
    • Morsy, Heba;
    • Nel, Melissa;
    • Fassad, Mahmoud R;
    • Gao, Fei;
    • Patel, Krutik;
    • Schoonen, Maryke;
    • Bisschoff, Michelle
    Publication type:
    Article
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    Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5060, doi. 10.1093/brain/awad240
    By:
    • Dominik, Natalia;
    • Magri, Stefania;
    • Currò, Riccardo;
    • Abati, Elena;
    • Facchini, Stefano;
    • Corbetta, Marinella;
    • Macpherson, Hannah;
    • Bella, Daniela Di;
    • Sarto, Elisa;
    • Stevanovski, Igor;
    • Chintalaphani, Sanjog R;
    • Akcimen, Fulya;
    • Manini, Arianna;
    • Vegezzi, Elisa;
    • Quartesan, Ilaria;
    • Montgomery, Kylie-Ann;
    • Pirota, Valentina;
    • Crespan, Emmanuele;
    • Perini, Cecilia;
    • Grupelli, Glenda Paola
    Publication type:
    Article
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    Beta-triggered adaptive deep brain stimulation during reaching movement in Parkinson's disease.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5015, doi. 10.1093/brain/awad233
    By:
    • He, Shenghong;
    • Baig, Fahd;
    • Merla, Anca;
    • Torrecillos, Flavie;
    • Perera, Andrea;
    • Wiest, Christoph;
    • Debarros, Jean;
    • Benjaber, Moaad;
    • Hart, Michael G;
    • Ricciardi, Lucia;
    • Morgante, Francesca;
    • Hasegawa, Harutomo;
    • Samuel, Michael;
    • Edwards, Mark;
    • Denison, Timothy;
    • Pogosyan, Alek;
    • Ashkan, Keyoumars;
    • Pereira, Erlick;
    • Tan, Huiling
    Publication type:
    Article
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    SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5153, doi. 10.1093/brain/awad245
    By:
    • Hugte, Eline J H van;
    • Lewerissa, Elly I;
    • Wu, Ka Man;
    • Scheefhals, Nicky;
    • Parodi, Giulia;
    • Voorst, Torben W van;
    • Puvogel, Sofia;
    • Kogo, Naoki;
    • Keller, Jason M;
    • Frega, Monica;
    • Schubert, Dirk;
    • Schelhaas, Helenius J;
    • Verhoeven, Judith;
    • Majoie, Marian;
    • Bokhoven, Hans van;
    • Kasri, Nael Nadif
    Publication type:
    Article
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