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M. Troncoso

universidad de chile

16H指数
78论文数
1.6K被引数
收录论文 35
发表时间
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical ProfilesGNAO1相关疾病中的纵向表型轨迹:定义疾病进展和临床特征
err2026-04-17
err0
errOAAI
errJana Domínguez-Carral MD; Ana María Domínguez Cobo MD; Sol Balsells MSc; Anna Aguilar-Ros BS; Chu-Ting Chang MSc; William G. Ludlam PhD; Kathryn Yang MD; Katerina Bernardi MD; Micaela Chinigioli MD; Ainara Salazar-Villacorta MD; Veronica Di Pisa MD; Nuria Lamagrande-Casanova MD; Elena González-Alguacil MD; Beatriz De la Casa-Fages MD, PhD; Akihisa Okumura MD; Josefina Rodríguez MD; Ayush Agarwal MD; Daniela Muñoz-Chesta MD; Carolina Reynoso-Osnayo MD; Amy Lin MD; Brahim Tabarki MD; Jobaida Parvin MD; Adolfo Alberto Gallo MD; Andreia Forno MD; Fabian Maass MD; Johnny Montiel Blanco MD; Salomé Nasif MD; Elizabeth Jennions MD; Jorge Luis Ramón-Gómez MD; Helene Verhelst MD, PhD; Juan José Nieto Barceló MD; Dunja Čokolić Petrović MD; Luz Victoria García Ruiz MD; Christoph van Riesen MD; Paulo Rego Sousa MD; Maria del Pilar Massaro Sanchez MD; Husnea Ara Khan MD; Wejdan Hakami MD; Jennifer Friedman MD; Iván Espinoza-Quinteros MD; Monica Troncoso MD; Divyani Garg MD; Micaela Pauni MD; Hirokazu Kurahashi MD; María Concepción Miranda-Herrero MD, PhD; Anna Duat-Rodriguez MD; Luca Soliani MD; Manju A. Kurian MD, PhD; Angeles Schteinschnaider MD; Siddharth Srivastava MD; Darius Ebrahimi-Fakhari MD, PhD; Kirill A. Martemyanov PhD; Juan Darío Ortigoza-Escobar MD, PhD
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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
err2025-05-01
err1
PREAI
errMoya-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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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TCOL6相关严重型肌营养不良的表征:由复发性变异COL6A1 c.930+189C>T引起
errBrain
IF11.7
err2025-04-03
err0
errOAAI
errA Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
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The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
err2024-09-09
err0
errOAAI
errWalker, 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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Active thrust tectonics along the western slope of the Central Andes southernmost Pampean flat-slab segment (-33°S, Chile): The Carin∼o Botado fault system
err2023-09-01
err2
PREAI
errEstay, J.; Pinto, L.; Easton, G.; De Pascale, G. P.; Troncoso, M.; Carretier, S.; Forman, S. L.
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Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review
err2023-05-25
err3
errOAAI
errAlentorn, 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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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
err2023-02-03
err1
errOAAI
errBrandao 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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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
err2022-03-01
err13
errOAAI
errSchluter, 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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Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
err2019-11-25
err17
errOAAI
errGu, 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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Monocular nystagmus in a patient with alternating hemiplegia of childhood
err2019-08-20
err1
errOAAI
errTello, Javiera; Ruiz, Isadora; Herrera, Luisa; Miranda, Ana; Alid, Paulina; Troncoso, Monica
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Central nervous system hypomyelination related to PLP1 defects: clinical and imaging description
err2015-10-01
err0
errOAAI
errTroncoso, M.; Santander, P.; Quintana, C.; Munoz, D.; Troncoso, L.; Guerra, P.; Hidalgo, M.; Diaz, R.; Flandez, A.; Barrios, A.
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Polysomnographic study in patients with duchenne muscular dystrophy
err2015-10-01
err0
PREAI
errRojas, C.; Hernandez, A.; Cardenas, J.; Saez, V.; Lara, S.; Troncoso, M.; Pena, C.; Gutierrez, J.; Castillo, D.
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Risk factors associated with perinatal arterial ischaemic stroke: a case-control study
err2015-10-01
err0
PREAI
errMunoz, D.; Troncoso, M.; Hidalgo, M.; Lara, S.; Parra, P.; Barrios, A.; Mateluna, C.; Balut, F.; Diaz, R.
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Paroxysmal dyskinesias in pediatric patients
err2015-10-01
err0
PREAI
errTroncoso, 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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Cerebral cavernous malformations in children: clinical features and outcome
err2015-10-01
err0
PREAI
errTroncoso, M.; Lara, S.; Munoz, D.; Micolich, V.; Canales, P.
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Clinical and genetic characterization of patients with myotonic dystrophy type 1 (DM1) at San Borja Arriaran Hospital
err2015-10-01
err0
errOAAI
errLara, S.; Quintana, C.; Hernandez, A.; Saez, V.; Santander, P.; Pena, C.; Troncoso, M.
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Clinical and genetic features of patients with glutaric aciduria type I (GA1)
err2015-10-01
err0
PREAI
errTroncoso, M.; Santander, P.; Ruiz, I.; Yanez, C.; Faure, F.; Diaz, R.; Troncoso, L.; Barrios, A.; Tello, J.
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Clinical profile, risk factors and severity in patients with pediatric arterial ischemic stroke
err2015-10-01
err0
errOAAI
errHidalgo, M.; Munoz, D.; Troncoso, M.; Lara, S.; Mateluna, C.; Parra, P.; Balut, F.; Barrios, A.; Faure, F.
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