Whole body muscle MRI protocol: pattern recognition in early onset NM disorders S Quijano-Roy, D Avila-Smirnow, RY Carlier, ... Neuromuscular Disorders 22, S68-S84, 2012 | 147 | 2012 |
Motor function measure: validation of a short form for young children with neuromuscular diseases C De Lattre, C Payan, C Vuillerot, P Rippert, D de Castro, C Bérard, ... Archives of physical medicine and rehabilitation 94 (11), 2218-2226, 2013 | 105 | 2013 |
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis K Dieterich, S Quijano-Roy, N Monnier, J Zhou, J Fauré, DA Smirnow, ... Human molecular genetics 22 (8), 1483-1492, 2013 | 83 | 2013 |
Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern K Hankiewicz, RY Carlier, L Lazaro, J Linzoain, C Barnerias, ... Muscle & nerve 52 (5), 728-735, 2015 | 60 | 2015 |
New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations M Ohlsson, S Quijano-Roy, N Darin, G Brochier, E Lacene, ... Neurology 71 (23), 1896-1901, 2008 | 54 | 2008 |
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations M Jarraya, S Quijano-Roy, N Monnier, A Béhin, D Avila-Smirnov, ... Neuromuscular Disorders 22, S137-S147, 2012 | 51 | 2012 |
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype S Vuillaumier-Barrot, S Quijano-Roy, C Bouchet-Seraphin, S Maugenre, ... Neuromuscular Disorders 19 (3), 182-188, 2009 | 39 | 2009 |
Litiasis urinaria en pediatría E Lagomarsino, D Avila, P Baquedano, F Cavagnaro SM, P Céspedes Revista chilena de pediatría 74 (4), 381-388, 2003 | 28 | 2003 |
Imaging patterns of muscle atrophy MA Weber, M Wolf, MP Wattjes Seminars in Musculoskeletal Radiology 22 (03), 299-306, 2018 | 23 | 2018 |
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC D Avila-Smirnow, L Gueneau, S Batonnet-Pichon, F Delort, HM Bécane, ... Revue neurologique 172 (10), 594-606, 2016 | 23 | 2016 |
Diagnosis and management of carpal tunnel syndrome in children with mucopolysaccharidosis: a 10 year experience I Dabaj, C Gitiaux, D Avila-Smirnow, J Ropers, I Desguerre, A Salon, ... Diagnostics 10 (1), 5, 2019 | 11 | 2019 |
Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports D Avila-Smirnow, A Boutron, MLÁ Beytía-Reyes, O Contreras-Olea, ... Journal of Medical Case Reports 12, 1-4, 2018 | 10 | 2018 |
Congenital myopathies S Quijano-Roy, D Avila-Smirnow, RY Carlier, JA Bevilacqua, NB Romero, ... Neuromuscular Imaging, 147-176, 2013 | 9* | 2013 |
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant D Avila-Smirnow, CPV Leal, MLAB Reyes, RC Zepeda, RG Escobar, ... Neuromuscular Disorders 30 (7), 554-561, 2020 | 6 | 2020 |
a comparison between Theoretical and experimental Lightning Induced voltages in Tropical Zone H Torres, M SALGADO, E PÉREZ, J HERRERA, C YOUNES, ... International Conference on Grounding and Earthing, GROUND, 2000 | 6 | 2000 |
Neuromuscular imaging book. Ed. by MP Wattjes S Quijano-Roy, D Avila-Smirnow, RY Carlier New York: Springer, 2013 | 5 | 2013 |
P2. 18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features D Avila-Smirnow, A Béhin, L Gueneau, K Claeys, M Beuvin, B Goudeau, ... Neuromuscular Disorders 20 (9), 623-624, 2010 | 5 | 2010 |
¿ Qué es la comorbilidad DA Smirnow, N Pediátrico Revista Chilena de Epilepsia Año 8 (1), 2007 | 5 | 2007 |
Lightning Risk Map: Determination and Application to a Power Transmission Line H Torres, C Quintana, D Rondón, D González, M Salgado, D Ávila Proceedings of 24th ICLP. Birmingham UK, 1998 | 5 | 1998 |
Neuromuscular complications of severe COVID-19 in paediatric patients: Medium-term follow-up D Avila-Smirnow, P Céspedes, F Reyes, J Angulo, A Cavagnaro, ... Neuromuscular Disorders 32 (6), 486-492, 2022 | 3 | 2022 |