المؤلفون: Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John^{Aff4, Aff5}, Monges, Soledad, Biancalana, Valérie^{Aff7, Aff8}, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud^{Aff1, Aff3}, Amthor, Helge, Servais, Laurent^{Aff10, Aff11}, de Feraudy, Yvan^{Aff7, Aff12}, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien^{Aff4, Aff5}, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj^{Aff16, Aff17}, Laing, Nigel, Evangelista, Teresinha^{Aff1, Aff3}, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B.^{Aff1, Aff3, IDs40478022014000_cor30}

المصدر: Acta Neuropathologica Communications. 10(1)

المؤلفون: Berardo, Andrés, Lornage, Xavière, Johari, Mridul^{Aff3, Aff4}, Evangelista, Teresinha^{Aff5, Aff6}, Cejas, Claudia, Barroso, Fabio, Dubrovsky, Alberto, Bui, Mai Thao, Brochier, Guy^{Aff5, Aff6}, Saccoliti, Maria, Bohm, Johann, Udd, Bjarne^{Aff4, Aff10}, Laporte, Jocelyn, Romero, Norma Beatriz^{Aff5, Aff6}, Taratuto, Ana Lia

المصدر: Journal of Neurology. 266(10):2524-2534

Alternate Title: Diagnosis of mitochondrial diseases: Utility of a clinical-molecular approach systemized incorporating high performance sequencing (English)

المؤلفون: 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

المصدر: In Neurología Argentina October-December 2017 9(4):231-242

المؤلفون: Garibaldi, Matteo^{Aff1, Aff2}, Rendu, John^{Aff3, Aff4}, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien^{Aff3, Aff4}, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo^{Aff6, Aff7}, Bevilacqua, Jorge Alfredo^{Aff8, Aff9}, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn^{Aff12, Aff13, Aff14, Aff15}, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz^{Aff1, Aff5}

المصدر: Acta Neuropathologica Communications. 7(1)

المؤلفون: Palmio, Johanna, Evila, Anni, Chapon, Francoise, Tasca, Giorgio, Xiang, Fengqing, Brådvik, Björn, Eymard, Bruno, Echaniz-Laguna, Andoni, Laporte, Jocelyn, Karppa, Mikko, Mahjneh, Ibrahim, Quinlivan, Rosaline, Laforet, Pascal, Damian, Maxwell, Berardo, Andres, Taratuto, Ana Lia, Bueri, Jose Antonio, Tommiska, Johanna, Raivio, Taneli, Tuerk, Matthias, Goelitz, Philipp, Chevessier, Frederic, Sewry, Caroline, Norwood, Fiona, Hedberg, Carola, Schroeder, Rolf, Edstrom, Lars, Oldfors, Anders, Hackman, Peter, Udd, Bjarne

المصدر: Journal of Neurology, Neurosurgery and Psychiatry. 85(3):345-353

مصطلحات موضوعية: EPIDEMIOLOGY, GENETICS, MYOPATHY, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology

وصف الملف: electronic

URL الوصول: https://lup.lub.lu.se/record/4417638
https://portal.research.lu.se/files/3444573/4779701.pdf
http://dx.doi.org/10.1136/jnnp-2013-304965

المؤلفون: 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.

المصدر: In European Journal of Medical Genetics October 2015 58(10):556-561

Alternate Title: Argentine consensus on the diagnosis, monitoring and treatment of Pompe disease (English)

المؤلفون: 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

المصدر: In Neurología Argentina April-June 2014 6(2):96-113

المؤلفون: 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

المساهمون: Allamand, Valérie

مصطلحات موضوعية: [SDV] Life Sciences [q-bio]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10692::7548c44bd46692c16ecbfc21944bbb2c
https://hal.science/hal-04029226

Alternate Title: Muscle biopsy in congenital myopathies and muscular dystrophies (English)

المؤلفون: Taratuto, Ana Lia

المصدر: In Neurología Argentina 2010 2(4):250-264

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