未登录ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular ArrhythmiasATP1A3变异、可变外显的短QT间期及致命性室性心律失常
Moya-Mendez, Mary E.; Bidzimou, Minu-Tshyeto; Muralidharan, Padmapriya; Zhang, Zhushan; Ezekian, Jordan E.; Perelli, Robin M.; Parker, Lauren E.; Prange, Lyndsey; Boggs, April; Kim, Jeffrey J.; Howard, Taylor S.; Word, Tarah A.; Wehrens, Xander H. T.; Reyes Valenzuela, Gabriela; Caraballo, Roberto; Garone, Giacomo; Vigevano, Federico; Weckhuysen, Sarah; Millevert, Charissa; Troncoso, Monica; Matamala, Mario; Sisodiya, Sanjay M.; Poole, Josephine; Zucca, Claudio; Panagiotakaki, Eleni; Tchaicha, Sebile; Zawadzka, Marta; Mazurkiewicz-Beldzinska, Maria; Fons, Carmen; Anticona, Jennifer; De Grandis, Elisa; Cordani, Ramona; Pisciotta, Livia; Groppa, Sergiu; Paryjas, Sandra; Ragona, Francesca; Mangia, Elena; Granata, Tiziana; Megvinov, Andrey; Pavlicek, Mirjana; Ess, Kevin; Simmons, Christine Q.; George Jr, Alfred L.; Vavassori, Rosaria; Mikati, Mohamad A.
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收藏The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
Walker, Ruth H.; Barreto, Mariana; Bateman, James R.; Bustamante, M. Leonor; Chiu, Graham; Feitell, Scott; Frey, Beat M.; Guerra, Patricio; Guerrero, Sofia; Jung, Hans H.; Maldonado, Fernando; Meyer, Eduardo; Miranda, Marcelo; McFarland, Emelie; Oates, Patricia; Ochoa, Gorka; Olsson, Karin; Paucar, Martin; Proschle, Jonatan Alvarez; Sammler, Esther M.; Troncoso, Monica; Wu-Wallace, Rachel; Young, Leo; Vege, Sunitha; Westhoff, Connie M.; Danek, Adrian
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收藏Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review
Alentorn, Agusti; Berzero, Giulia; Alexopoulos, Harry; Tzartos, John; Botero, German Reyes; Martinez, Andrea Morales; Muniz-Castrillo, Sergio; Vogrig, Alberto; Joubert, Bastien; Jimenez, Francisco Garcia A.; Cabrera, Dagoberto; Tobon, Jose Vladimir; Delgado, Carolina; Sandoval, Patricio; Troncoso, Monica; Galleguillos, Lorna; Giry, Marine; Benazra, Marion; Verdin, Isaias Hernandez; Dade, Maelle; Picard, Geraldine; Rogemond, Veronique; Weiss, Nicolas; Dalakas, Marinos C.; Boelle, Pierre-Yves; Delattre, Jean-Yves; Honnorat, Jerome; Psimaras, Dimitri
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收藏Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
Brandao de Paiva, Anderson Rodrigues; Santos Pessoa, Andre Luiz; Nobrega, Paulo Ribeiro; Martins Moreno, Cristiane Araujo; Lynch, David S.; Taniguti, Lucas Mitsuo; Kitajima, Joao Paulo; Freua, Fernando; Della-Ripa, Bruno; Cunha, Paulina; de Barcelos, Isabella Peixoto; Macedo-Souza, Lucia Ines; Takeuchi, Carlos Augusto; Silva Garcia, Antonio Milton; Nardes, Flavia; Fontao, Ramiro; Antoniuk, Sergio Antonio; Troncoso, Monica; Specola, Norma; Durand, Consuelo; Coelho Silva Madeiro, Bianca de Aguiar; Rodovalho Doriqui, Maria Juliana; Vergara, Diane; Houlden, Henry; Kok, Fernando
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收藏Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Schluter, Agatha; Rodriguez-Palmero, Agusti; Verdura, Edgard; Velez-Santamaria, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas-Serra, Laura; Jose Martinez, Juan; Guilera, Cristina; Giros, Marisa; Artuch, Rafael; Yoldi, Maria Eugenia; O'Callaghan, Mar; Garcia-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragon Rezola, Elisabet; Redin, Claire; Louis Mandel, Jean; Conejo, David; Sierra-Corcoles, Concepcion; Beltran, Sergi; Gut, Marta; Vazquez, Elida; Del Toro, Mireia; Troncoso, Monica; Perez-Jurado, Luis A.; Gutierrez-Solana, Luis G.; Lopez de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora
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收藏Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
Gu, Shen; Chen, Chun-An; Rosenfeld, Jill A.; Cope, Heidi; Launay, Nathalie; Flanigan, Kevin M.; Waldrop, Megan A.; Schrader, Rachel; Juusola, Jane; Goker-Alpan, Ozlem; Milunsky, Aubrey; Schluter, Agatha; Troncoso, Monica; Pujol, Aurora; Tan, Queenie K-G; Schaaf, Christian P.; Meng, Linyan
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收藏Central nervous system hypomyelination related to PLP1 defects: clinical and imaging description
Troncoso, M.; Santander, P.; Quintana, C.; Munoz, D.; Troncoso, L.; Guerra, P.; Hidalgo, M.; Diaz, R.; Flandez, A.; Barrios, A.
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收藏Paroxysmal dyskinesias in pediatric patients
Troncoso, M.; Barrios, A.; Balut, F.; Witting, S.; Lopez, C.; Saez, V.; Guzman, G.; Coria, C.; Diaz, C.; Flandes, A.; Henriquez, K.
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收藏Clinical profile, risk factors and severity in patients with pediatric arterial ischemic stroke
Hidalgo, M.; Munoz, D.; Troncoso, M.; Lara, S.; Mateluna, C.; Parra, P.; Balut, F.; Barrios, A.; Faure, F.
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