Zobrazeno 1 - 10
of 682
pro vyhledávání: '"Taratuto, A"'
Autor:
Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)
Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course
Externí odkaz:
https://doaj.org/article/aa0b0640d52441babc07367bace6ddce
Autor:
Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz
Publikováno v:
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
Externí odkaz:
https://doaj.org/article/efe1e50ce5564dbd926ce775ef3d39e6
Autor:
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)
Abstract Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetical
Externí odkaz:
https://doaj.org/article/c73f5437deee409b931e8b9a6c5226cb
Autor:
Rosales, Julieta, Medina, Nancy, Martínez, Nerina, Rodríguez-Quiroga, Sergio, Córdoba, Marta, Vazquez-Dusefante, Cecilia, Vega, Patricia, Taratuto, Ana Lía, Kauffman, Marcelo Andrés, González-Morón, Dolores
Publikováno v:
In Neurología Argentina October-December 2017 9(4):231-242
Autor:
Malfatti, Edoardo, Monges, Soledad, Lehtokari, Vilma-Lotta, Schaeffer, Ursula, Abath Neto, Osorio, Kiiski, Kirsi, Lubieniecki, Fabiana, Taratuto, Ana Lía, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B.
Publikováno v:
In European Journal of Medical Genetics October 2015 58(10):556-561
Autor:
Maximiliano A Hawkes, Miguel Wilken, Verónica Bruno, Virginia Pujol-Lereis, Guillermo Povedano, María Saccoliti, Analia Taratuto, Sebastián F Ameriso
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 73, Iss 9, Pp 751-754 (2015)
CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argen
Externí odkaz:
https://doaj.org/article/3175092b5a704e36a07d94b3affe80a0
Autor:
Dubrovsky, Alberto, Fulgenzi, Ernesto, Amartino, Hernán, Carlés, Daniel, Corderi, José, de Vito, Eduardo, Fainboim, Alejandro, Ferradás, Nélida, Guelbert, Norberto, Lubieniecki, Fabiana, Mazia, Claudio, Mesa, Lilia, Monges, Soledad, Pesquero, Joao, Reisin, Ricardo, Rugiero, Marcelo, Schenone, Andrea, Szlago, Marina, Taratuto, Ana Lia, Zgaga, Marisa
Publikováno v:
In Neurología Argentina April-June 2014 6(2):96-113
Akademický článek
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Autor:
Allamand, Valérie, Monges, Maria Soledad, Gartioux, Corine, Taratuto, Ana Lia, Becdelièvre, Alix De, Donkervoort, Sandra, Li, Dong, Hakonarson, Hakon, Ariste, Olivier, Lejeune, Elodie, Keren, Boris, Leeson, Michael, Foley, a Reghan, Bönnemann, Carsten G, Quijano-Roy, Susana, Métay, Corinne, Watson, Deborah J
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10692::7548c44bd46692c16ecbfc21944bbb2c
https://hal.science/hal-04029226
https://hal.science/hal-04029226
Autor:
Taratuto, A.L., Akman, H.O., Saccoliti, M., Riudavets, M., Arakaki, N., Mesa, L., Sevlever, G., Goebel, H., DiMauro, S.
Publikováno v:
In Neuromuscular Disorders 2010 20(12):783-790