Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Mariana, Loos"'
Autor:
Matías, Juanes, Mariana, Loos, Gabriela, Reyes, Gabriel, Veneruzzo, Francisco Martín, García, Giovanna, Aschettino, Silvana, Calligaris, María Eugenia, Martín, María Eugenia, Foncuberta, Cristina N, Alonso, Roberto H, Caraballo
Publikováno v:
Medicina. 82(6)
The aim of this study was to extend our knowledge of the genetic background of Argentinean pediatric patients with developmental and epileptic encephalopathy (DEE) applying a next generation sequencing (NGS) panel.Thirty one patients with DEE were st
Autor:
Darra, Francesca, Monchelato, Manuela, Mariana, Loos, Matias, Juanes, DALLA BERNARDINA, Bernardo, Gabriela Reyes Valenzuela, Adolfo, Gallo, Roberto, Caraballo
Publikováno v:
Epilepsy Research. 190:107098
Autor:
María Roqué, Lía Mayorga, Adriana P. Correa, Mariana Loos, María J. Guillamondegui, Verónica H. Araoz, Juan Agustín Cueto, Sergio Laurito
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents 10–20% of LS. Mutations in MT-ATP6 are the
Autor:
Cristina N. Alonso, Maria Saccoliti, Hernán Eiroa, Hilda Verónica Aráoz, Ana Lia Taratuto, Maria Gabriela Obregon, Gimena Gomez, Mariana Loos, Carlos Rugilo, Lía Mayorga, Fabiana Lubieniecki, Roberto Caraballo
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100733-(2021)
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100733-(2021)
Objective To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of
Autor:
Gabriela Reyes Valenzuela, Rodrigo Vargas, Mariana Loos, Rafael Lizama, Pablo Spinsanti, Lucas Beltran, Roberto Caraballo
Publikováno v:
Epilepsy Research. 144:49-52
Purpose The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). Method The clinical charts of 35 patients seen between 1990 and 2016
Autor:
Gabriela Reyes, Cristina N. Alonso, Gabriel Veneruzzo, Mariana Loos, Francisco Martin Garcia, Gimena Gomez, Matias Juanes, Hilda Verónica Aráoz, Lilien Chertkoff, Roberto Caraballo
Publikováno v:
Epilepsy & Behavior. 111:107322
Objective The aim of this study was to perform a molecular characterization of 17 Argentinean pediatric patients with diagnosis of having epileptic encephalopathies (EEs) of the first year of life without known etiology, applying next-generation sequ
Autor:
María Roqué, Hernán Eiroa, Clara García Samartino, Patricia Silvia Romano, Lía Mayorga, Diego M. Marzese, Betiana Nebaí Salassa, Mariana Loos, Fabiana Lubieniecki
Publikováno v:
Cellular and molecular life sciences : CMLS. 76(7)
Mitochondrial dysfunction represents an important cellular stressor and when intense and persistent cells must unleash an adaptive response to prevent their extinction. Furthermore, mitochondria can induce nuclear transcriptional changes and DNA meth
Autor:
Miguel A. Martín, Andrés Nascimento, D. Ram, Julio Montoya, Marcos Madruga-Garrido, Christoph Karch, Sandeep Jayawant, M Imelda Hughes, Patrick F. Chinnery, Maria Alice Donati, Joshua Kriger, Emanuele Barca, Yolanda Cámara, Michio Hirano, Robert W. Taylor, Robert Schoenaker, Pirjo Isohanni, Carlos Ortez, John L.P. Thompson, Carlos Lopez Gomez, Mariana Loos, Carl Fratter, Salvatore DiMauro, Karin Kleinsteuber, J. Domínguez-Carral, Monika Hofer, Anu Suomalainen, Jeffrey W. Ralph, Ewen W. Sommerville, Bruce Levin, Caterina Garone, Cristina Domínguez-González, Grainne S. Gorman, Robert McFarland, Julie Evans, Sonia Emperador, Yuelin Long, Adnan Y. Manzur, Shamima Rahman, Neil D Thomas, Joanna Poulton, Timothy Kerr, Anupam Chakrapani
Publikováno v:
JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Medical Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Medical Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
BackgroundThymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c6d7c39882cd9497d308fe08728e9cd
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14101
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14101
Autor:
Sergio Laurito, Marcela Pereyra, Silvina de Pinho, Fabiana Lubieniecki, Maria Soledad Roque, Lía Mayorga, Mariana Loos, Marcelo Andrés Kauffman, Hugo A. Arroyo, Hernán Eiroa
Publikováno v:
Mitochondrial DNA Part A. 27:2864-2867
The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nu
Autor:
Mariana Loos, Hernán Eiroa, C. Garcia Samartino, María Roqué, Lía Mayorga, Betiana Nebaí Salassa, Patricia Silvia Romano
Publikováno v:
Neuromuscular Disorders. 28:S87-S88