Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mónica Troncoso Schifferli"'
Autor:
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101060- (2024)
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional
Externí odkaz:
https://doaj.org/article/d1f6513168dd43cd873e78c97646f8bf
Autor:
Norberto Guelbert, Oscar M Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora G Atanacio, Natacha S Bazan, Ellaine D.F Carvalho, María D. F Carvalho de Andrade, Inés M Denzler, Consuelo Durand, Erlane M Ribeiro, Juan C Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma J Hernández Rodriguez, Emilia K Embiruçu, Marcelo A Kauffman, Nury I Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina F Fischinger Moura de Souza, Victor A Muñoz, Ricardo A Naranjo Florez, André L Pessoa, Maria V Ruiz, Martha M Solano Villareal, Norma Spécola, Lina M Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Urgrina, María M Vaccarezza, Diane Vergara, María M Villanueva
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51af08e74ac01947826084e752e49bf4
https://doi.org/10.21203/rs.3.rs-2159184/v1
https://doi.org/10.21203/rs.3.rs-2159184/v1
Autor:
Daniela Munoz Chesta, Mónica Troncoso Schifferli, Marta Hernandez Chavez, Karla Ramirez Bruggink, David Aguirre Padilla
Publikováno v:
Movement Disorders Clinical Practice. 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b9aeaac52487b0a0aa6552c1e433f0b
https://doi.org/10.1002/mdc3.13527
https://doi.org/10.1002/mdc3.13527
Autor:
D. Munoz, Maria Stamelou, Manju A Kurian, Ignacio Juan Keller Sarmiento, Steven J. Lubbe, Jerry Hsu, Dora Steel, Mónica Troncoso Schifferli, Francesca Magrinelli, Niccolo E. Mencacci, Leonidas Stefanis, Nicholas W. Wood
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 36(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d3b6952b1344ca5487d42a8587d72b
https://pubmed.ncbi.nlm.nih.gov/34145634
https://pubmed.ncbi.nlm.nih.gov/34145634
Autor:
Marta Hernández Chávez, Tomás Mesa Latorre, Mariela Pedraza Herrera, Mónica Troncoso Schifferli
Publikováno v:
Revista chilena de pediatría v.85 n.5 2014
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Introducción: El Síndrome de Dravet (SD) es una de las formas más intratables de epilepsia que debuta en lactantes con convulsiones febriles (CF) complejas recurrentes que evolucionan posteriormente a epilepsia refractaria con regresión psicomoto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dcb0bc399dc8ee27d5eb860ce76e25d
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062014000500010
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062014000500010