ALBERTO LUIS ROSA

Datos académicos

Lugar de trabajo	FUNDACION ALLENDE
Título	Doctor en Ciencias Quimicas\| Doctor en Medicina y Cirugia
Grado	Universitario de posgrado/doctorado

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy

Gatica, Laura Virginia ; Rosa, Alberto Luis (Pergamon-Elsevier Science Ltd, 2016-12)
Artículo A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant

Laróvere, Laura Elena ; Romero, Nuria Magdalena ; Fairbanks, L.D.; Conde, Cecilia Beatriz ; Guelbert, Norberto Bernardo; Rosa, Alberto Luis ; Dodelson de Kremer, Raquel (Academic Press Inc Elsevier Science, 2004-04)
Artículo Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32

Rosa, Alberto Luis ; Wu, Yuan Qing; Kwabi Addo, Bernard; Coveler, Karen J.; Sutton, V. Reid; Shaffer, Lisa G. (Springer, 2005-12)
Artículo Argentine consensus on late-onset Pompe's disease

Dubrovsky, Alberto; Fulgenzi, Ernesto; de Vito, Eduardo ; Barroso, Fabio; Berardo, Andres; Bettini, Mariela; Binaghi, Daniela; Calabrese, Esteban; Carlés, Daniel; Chaves, Marcelo; Chloca, Fernando; Conti, Eugenia; Corderi, José; DiGennaro, Federico; Ferradás, Nélida; Jáuregui, Agustín; Lubieniecki, Fabiana; Mazia, Claudio Gabriel; Medina, Marta; Pirra, Laura; Politei, Juan; Reisin, Ricardo; Rosa, Alberto Luis ; Rugiero, Marcelo; Salutto, Valeria Luján; Schenone, Andrea; Sussini, Mario; Taratuto, Ana L. (Fundación Revista Medicina, 2018-07)
Artículo Chemical and sensory features of Torrontés Riojano sparkling wines produced by second fermentation in bottle using different Saccharomyces strains

Raymond Eder, María Laura ; Fariña, Laura; Dellacassa, Eduardo; Carrau, Francisco; Rosa, Alberto Luis (Sage Publications Ltd, 2020-09)
Artículo Clinical features of facioscapulohumeral muscular dystrophy 2

De Greef, J. C.; Lemmers, R. J. L. F.; Camaño, P.; Day, J. W.; Sacconi, S.; Dunand, M.; Van Engelen, B. G. M.; Kiuru Enari, S.; Padberg, G. W.; Rosa, Alberto Luis ; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S. L.; Frants, R. R.; Van Der Maarel, S. M.; Tawil, R. (Lippincott Williams, 2010-10-26)
Evento Differential yeast populations in grape musts from different Vitis species in a shared terroir

Raymond Eder, María Laura ; Conti, Francisco; Rosa, Alberto Luis (Instituto de Histología y Embriología, 2019)
Artículo Genetic, physiological, and industrial aspects of the fructophilic non-saccharomyces yeast species, starmerella bacillaris

Raymond Eder, María Laura ; Rosa, Alberto Luis (MDPI AG, 2021-06)
Artículo Growth fitness of indigenous wine yeasts in grape musts from different vitis species

Raymond Eder, María Laura ; Rosa, Alberto Luis (Acta Scientific, 2021-03)
Artículo Isolation and identification of the indigenous yeast population during spontaneous fermentation of Isabella (Vitis labrusca L.) grape must

Raymond Eder, María Laura ; Reynoso, Cristina; Lauret, Santiago C.; Rosa, Alberto Luis (Frontiers Research Foundation, 2017-03-29)
Artículo Management of neuromuscular diseases and spinal muscular atrophy in Latin America

Monges, Maria Rita; Rosa, Alberto Luis (Nature Publishing Group, 2017-09)
Artículo Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy

Corona, Edgardo Daniel; Jacquelin, Daniela Karina; Gatica, Laura Virginia; Rosa, Alberto Luis (Public Library Science, 2013-10-08)
Artículo Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Stevanin, Giovanni; Azzedine, Hamid; Denora, Paola; Boukhris, Amir; Tazir, Meriem; Lossos, Alexander; Rosa, Alberto Luis ; Lerer, Israela; Hamri, Abdelmadjid; Alegria, Paulo; Loureiro, José; Tada, Masayoshi; Hannequin, Didier; Anheim, Mathieu; Goizet, Cyril; Gonzalez Martinez, Victoria; Le Ber, Isabelle; Forlani, Sylvie; Iwabuchi, Kiyoshi; Meiner, Vardiela; Uyanik, Goekhan; Erichsen, Anne Kjersti; Feki, Imed; Pasquier, Florence; Belarbi, Soreya; Cruz, Vitor T.; Depienne, Christel; Truchetto, Jeremy; Garrigues, Guillaume; Tallaksen, Chantal; Tranchant, Christine; Nishizawa, Masatoyo; Vale, José; Coutinho, Paula; Santorelli, Filippo M.; Mhiri, Chokri; Brice, Alexis; Durr, Alexandra (Oxford University Press, 2008-01)
Artículo Non-conventional grape varieties and yeast starters for first and second fermentation in sparkling wine production using the traditional method

Raymond Eder, María Laura ; Rosa, Alberto Luis (MDPI, 2021-12-20)
Artículo Non-tandem repeat polymorphisms at microsatellite loci in wine yeast species

Raymond Eder, María Laura ; Rosa, Alberto Luis (Springer Heidelberg, 2020-05)
Artículo Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman

Gatto, Emilia Mabel; Etcheverry, Jose L.; Converso, Daniela Paola ; Bidinost, Carla; Rosa, Alberto Luis (Wiley-liss, div John Wiley & Sons Inc., 2010-10-15)
Artículo PVF1/PVR signaling and apoptosis promotes the rotation and dorsal closure of the Drosophila male terminalia

Macias, Ana Maria ; Romero, Nuria Magdalena ; Martín, Francisco; Suárez, Leonardo; Rosa, Alberto Luis ; Morata, Ginés (U B C Press, 2004-12)
Artículo SSU1 Checkup, a Rapid Tool for Detecting Chromosomal Rearrangements Related to the SSU1 Promoter in Saccharomyces cerevisiae: An Ecological and Technological Study on Wine Yeast

Marullo, Philippe; Claisse, Olivier; Raymond Eder, María Laura ; Börlin, Marine; Feghali, Nadine; Bernard, Margaux; Legras, Jean Luc; Albertin, Warren; Rosa, Alberto Luis ; Masneuf Pomarede, Isabelle (Frontiers Media S.A., 2020-06)
Artículo The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors

Quintero, Julieta ; Saad, Nizar Y.; Pagnoni, Sabrina Marcela ; Jacquelin, Daniela Karina ; Gatica, Laura Virginia ; Harper, Scott Q.; Rosa, Alberto Luis (Elsevier Science, 2022-10)
Artículo Vitis species, vintage, and alcoholic fermentation do not drive population structure in Starmerella bacillaris (synonym Candida zemplinina) species

Raymond Eder, María Laura ; Conti, Francisco; Bely, Marina; Masneuf Pomarède, Isabelle; Albertin, Warren; Rosa, Alberto Luis (John Wiley & Sons Ltd, 2019-06)

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