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Artículo

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B

Acuna, Mariana; Martinez, Pablo; Moraga, Carol; He, Xingxuan; Moraga Vergara, Mauricio; Hunter, Bessie; Nuernberg, Peter; Gutierrez, Rodrigo; González Canales, Mauricio; Schuchman, Edward; Luis Santos, Jose; Francisco Miquel, Juan; Mabe, Paulina; Zanlungo, Silvana (NATURE PUBLISHING GROUP, 2016)

Artículo

Cholinergic abnormalities, endosomal alterations and up-regulation of nerve growth factor signaling in Niemann-Pick Type C Disease

Cabeza, Carolina; Figueroa, Alicia; Lazo, Oscar M.; Galleguillos, Carolina; Pissani, Claudia; Klein, Andrés; González Billault, Christian; Inestrosa, Nibaldo C.; Alvarez, Alejandra R.; Zanlungo, Silvana; Bronfman, Francisca (2012)

Artículo

Alteration of gene expression profile in niemann-pick type C mice correlates with tissue damage and oxidative stress

Vázquez, Mary C.; del Pozo, Talía; Robledo, Fermín; Carrasco, Gonzalo; Pavez, Leonardo; Olivares, Felipe; González, Mauricio; Zanlungo, Silvana (2011)

Artículo

Lack of activation of the unfolded protein response in mouse and cellular models of Niemann-Pick type C disease

Klein, Andres; Mosqueira, Matías; Martínez, Gabriela; Robledo, Fermín; González, Marcela; Caballero, Benjamín; Cancino, Gonzalo I.; Alvarez, Alejandra R.; Hetz Flores, Claudio; Zanlungo, Silvana (2011)

Artículo

Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol content and reduced in vitro fertilising ability

Busso, Dolores; Oñate Alvarado, María José; Balboa, Elisa; Castro, Juan; Lizama, Carlos; Morales, Gabriela; Vargas, Susana; Härtel, Steffen; Moreno, Ricardo D.; Zanlungo, Silvana (CSIRO, 2014)

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