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Daniela Avila
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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
1472012
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
1052013
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
832013
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
602015
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
542008
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
512012
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
392009
Litiasis urinaria en pediatría
E Lagomarsino, D Avila, P Baquedano, F Cavagnaro SM, P Céspedes
Revista chilena de pediatría 74 (4), 381-388, 2003
282003
Imaging patterns of muscle atrophy
MA Weber, M Wolf, MP Wattjes
Seminars in Musculoskeletal Radiology 22 (03), 299-306, 2018
232018
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
232016
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
112019
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
102018
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
62020
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
62000
Neuromuscular imaging book. Ed. by MP Wattjes
S Quijano-Roy, D Avila-Smirnow, RY Carlier
New York: Springer, 2013
52013
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
52010
¿ Qué es la comorbilidad
DA Smirnow, N Pediátrico
Revista Chilena de Epilepsia Año 8 (1), 2007
52007
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
51998
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
32022
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