| Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset M Bitoun, JA Bevilacqua, B Prudhon, S Maugenre, AL Taratuto, S Monges, ... Annals of Neurology: Official Journal of the American Neurological …, 2007 | 158 | 2007 |
| “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy JA Bevilacqua, M Bitoun, V Biancalana, A Oldfors, G Stoltenburg, ... Acta neuropathologica 117, 283-291, 2009 | 130 | 2009 |
| Analysis of the DYSF mutational spectrum in a large cohort of patients M Krahn, C Béroud, V Labelle, K Nguyen, R Bernard, G Bassez, ... Human mutation 30 (2), E345-E375, 2009 | 124 | 2009 |
| Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization JA Bevilacqua, N Monnier, M Bitoun, B Eymard, A Ferreiro, S Monges, ... Neuropathology and applied neurobiology 37 (3), 271-284, 2011 | 119 | 2011 |
| Dynamin 2 mutations associated with human diseases impair clathrin‐mediated receptor endocytosis M Bitoun, AC Durieux, B Prudhon, JA Bevilacqua, A Herledan, ... Human mutation 30 (10), 1419-1427, 2009 | 95 | 2009 |
| Disfagia en el paciente neurológico R González, J Bevilacqua Rev Hosp Clín Univ Chile 20 (252), 62, 2009 | 87 | 2009 |
| Dynamin-2 function and dysfunction along the secretory pathway AM González-Jamett, F Momboisse, V Haro-Acuña, JA Bevilacqua, ... Frontiers in endocrinology 4, 126, 2013 | 74 | 2013 |
| Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies AM Cárdenas, AM González-Jamett, LA Cea, JA Bevilacqua, P Caviedes Experimental Neurology 283, 246-254, 2016 | 69 | 2016 |
| A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation M Bitoun, JA Bevilacqua, B Eymard, B Prudhon, M Fardeau, P Guicheney, ... Neurology 72 (1), 93-95, 2009 | 49 | 2009 |
| Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy A Alonso-Jimenez, RH Kroon, A Alejaldre-Monforte, C Nuñez-Peralta, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (5), 576-585, 2019 | 44 | 2019 |
| Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells AM González-Jamett, X Baez-Matus, MJ Olivares, F Hinostroza, ... Scientific Reports 7 (1), 4580, 2017 | 44 | 2017 |
| Las disartrias RA González, JA Bevilacqua Revista Hospital Clínico Universidad de Chile 23, 299-309, 2012 | 44 | 2012 |
| Muscarinic M1 receptors activate phosphoinositide turnover and Ca2+ mobilisation in rat sympathetic neurones, but this signalling pathway does not mediate M … E del Río, JA Bevilacqua, SJ Marsh, P Halley, MP Caulfield The Journal of Physiology 520 (1), 101-111, 1999 | 44 | 1999 |
| Effects of growth hormone and thyroxine on thymulin secretion in aging rats RG Goya, MC Gagnerault, YE Sosa, JA Bevilacqua, M Dardenne Neuroendocrinology 58 (3), 338-343, 1993 | 42 | 1993 |
| Broadening the imaging phenotype of dysferlinopathy at different disease stages J Díaz, L Woudt, L Suazo, C Garrido, P Caviedes, AM CÁrdenas, ... Muscle & nerve 54 (2), 203-210, 2016 | 38 | 2016 |
| Dynamin‐2 in nervous system disorders AM González‐Jamett, V Haro‐Acuña, F Momboisse, P Caviedes, ... Journal of Neurochemistry 128 (2), 210-223, 2014 | 37 | 2014 |
| Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy H Wang, C Castiglioni, AK Bayram, F Fattori, S Pekuz, D Araneda, H Per, ... Neuromuscular Disorders 27 (9), 836-842, 2017 | 35 | 2017 |
| The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease JA Bevilacqua, MR Guecaimburu Ehuletche, A Perna, A Dubrovsky, ... Orphanet journal of rare diseases 15, 1-11, 2020 | 30 | 2020 |
| Toward an objective measure of functional disability in dysferlinopathy L Woudt, GA Di Capua, M Krahn, C Castiglioni, R Hughes, M Campero, ... Muscle & nerve 53 (1), 49-57, 2016 | 30 | 2016 |
| ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies M Garibaldi, J Rendu, J Brocard, E Lacene, J Fauré, G Brochier, M Beuvin, ... Acta Neuropathologica Communications 7, 1-19, 2019 | 29 | 2019 |
