Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Lucia Zavala"'
Autor:
Nerina Martinez, Julieta Rosales, Nancy Medina, Josefina Perez-Maturo, Valeria Salinas, Lucia Zavala, Patricia Vega, Sergio Rodríguez-Quiroga, Dolores González- Morón, Marcelo A. Kauffman
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Mitochondrial diseases are multisystemic disorders characterized by an impairment of the mitochondrial respiratory chain. Diagnosis requires an approach that involves a high index of suspicion, molecular techniques and a careful selection of
Externí odkaz:
https://doaj.org/article/2963bc6425e64dd09ac24fb573dbc264
Publikováno v:
Neurología Argentina. 14:183-186
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3bd76fa3d5a631cdd84731a8e288c09a
https://doi.org/10.1016/j.neuarg.2022.06.003
https://doi.org/10.1016/j.neuarg.2022.06.003
Publikováno v:
Movement Disorders Clinical Practice. 9:122-124
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edd40b2ac00cd0b599d472c829f5a50b
https://doi.org/10.1002/mdc3.13358
https://doi.org/10.1002/mdc3.13358
Autor:
Betiana G Comas, Sergio Alejandro Rodríguez-Quiroga, Luca Marsili, Josefina Perez-Maturo, Walter Silva, Valeria Salinas, Nerina Martínez, Hernán Amartino, Patricia Vega, Clarisa Maxit, Marcelo Andrés Kauffman, Kevin R Duque, Nancy Medina, Lucia Zavala, Ignacio Sfaello, Alberto J. Espay, Damián Consalvo, Andrea Sturchio, Barbara Grimberg, Dolores González-Morón
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:876-884
The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a "diagnostic odyssey." An increase in the variability of genetic disorders and the corresponding gene-disease associations suggest the need to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea3a264e8ff7f53b35a965ec3ae51fe7
https://doi.org/10.1002/ajmg.c.31848
https://doi.org/10.1002/ajmg.c.31848
Autor:
Sergio Alejandro Rodríguez-Quiroga, Lucia Zavala, J. Perez Maturo, Tomoko Arakaki, Marta Córdoba, Patricia Vega, Nancy Medina, Dolores González-Morón, Julieta Rosales, Nelida Garretto, Marcelo Andrés Kauffman, Valeria Salinas
Publikováno v:
Journal of Human Genetics. 65:895-902
Ataxias are one of the most frequent complaints in Neurogenetics units worldwide. Currently, more than 50 subtypes of spinocerebellar ataxias and more than 60 recessive ataxias are recognized. We conducted an 11-year prospective, observational, analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce41f92327c4126e7d46fb98ca1f5cc6
https://doi.org/10.1038/s10038-020-0785-z
https://doi.org/10.1038/s10038-020-0785-z
Autor:
Lucia Zavala, Josefina Perez Maturo, Marcela González Cid, Sergio Alejandro Rodríguez Quiroga, Marcelo Andrés Kauffman
Publikováno v:
Movement Disorders Clinical Practice. 7:727-729
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae058c3203f853e665971adb95c26c2f
https://doi.org/10.1002/mdc3.13013
https://doi.org/10.1002/mdc3.13013
Autor:
Josefina Perez Maturo, Sergio Alejandro Rodríguez-Quiroga, Dolores González-Morón, Nelida Garretto, Marcelo Andrés Kauffman, Lucia Zavala
Publikováno v:
Mov Disord Clin Pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bfe77bbe02bd5b78a85728878ddbca
https://doi.org/10.1002/mdc3.12920
https://doi.org/10.1002/mdc3.12920
Autor:
Josefina, Perez Maturo, Marcela, Gonzalez Cid, Lucia, Zavala, Sergio, Rodriguez Quiroga, Marcelo Andres, Kauffman
Publikováno v:
Mov Disord Clin Pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c57ae72f3a738f70342fee7082002e0a
https://pubmed.ncbi.nlm.nih.gov/32775531
https://pubmed.ncbi.nlm.nih.gov/32775531
Autor:
Nancy Medina, Sergio Alejandro Rodríguez-Quiroga, Dolores González Morón, Hernán Amartino, Marcelo Andrés Kauffman, Josefina Pérez Maturo, Ignacio Sfaello, Guillermo Agosta, Eva Maria Serafín, Patricia Vega, Lucia Zavala, Nerina Martínez, Valeria Salinas
Publikováno v:
European Journal of Medical Genetics. 64:104363
Developmental and epileptic encephalopathies (DEE) are complex pediatric epilepsies, in which heterogeneous pathogenic factors play an important role. Next-generation-sequencing based tools have shown excellent effectiveness. The constant increase in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0636a0cf75bdd7613e225c4f5fe46b4
https://doi.org/10.1016/j.ejmg.2021.104363
https://doi.org/10.1016/j.ejmg.2021.104363
Autor:
Jose A. Gutierrez-Gnecchi, Fanny Lucia Zavala-Santoyo, Jorge Luis Díaz-Huerta, A.C. Téllez-Anguiano, Owen Yair Colin Gonzalez, Sergio Arellano-Calderon
Publikováno v:
CONIELECOMP
Pulmonary tuberculosis (TB) is a highly infectious disease. TB is curable if it is diagnosed opportunely. Worldwide, the most used diagnostic method is the analysis of smear microscopy, which consists in, using a microscope, detecting and counting th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::738ad220d1f3db17b63b4d8a66aa629e
https://doi.org/10.1109/conielecomp.2019.8673181
https://doi.org/10.1109/conielecomp.2019.8673181