PDI - Resultado de Búsqueda

Daniela Avila Smirnow

Instructor Adjunto

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

Enfermedades Neuromusculares; Resonancia Magnética Muscular; Neurofisiología clínica

Médico Cirujano, PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 2002

Instructor Adjunto Part Time

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Chile

2014 - 2017
Profesor Asistente Adjunto Part Time

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Chile

2017 - A la fecha

Neurólogo Pediátrico

Hospital Sótero del Río

Chile

2005 - 2007
Neurólogo Pediátrico

Hospital Sótero del Río

Chile

2012 - A la fecha
Neurólogo Pediátrico

Clínica Alemana de Santiago

Chile

2013 - 2014
Neurólogo Pediátrico

Red Salud Universidad Católica

Chile

2005 - 2007
Neurólogo Pediátrico

Red Salud Universidad Católica

Chile

2012 - A la fecha
Académico

pontificia Universidad Católica de Chile

Chile

2014 - A la fecha


Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience Dabaj I.; Gitiaux C.; Avila-Smirnow, D.; Ropers J.; Desguerre I.; Salon A.; Pannier S.; Tebani A.; Valayannopoulos V.; Quijano-Roy S. Article ISI SCOPUS DIAGNOSTICS (2020)
Neuropatía ciática en pediatría: Presentación clínica y seguimiento a largo plazo Jaque-Almendras C.; Escobar R.G.; Caicedo-Feijoo A.; BeytÃa-Reyes M.L.A.; Correa-PÃ©rez S.; Gejman-EnrÃquez R.; Cruz-Quiroga J.P.; Contreras-Olea O.; Avila-Smirnow, D. Article WOS-ESCI SCIELO SCOPUS Andes Pediátrica, Revista Chilena de Pediatría (2020)
Síndrome de Guillain Barré e hidrocefalia en un lactante con Síndrome de Wiskott Aldrich Ávila-Smirnow D.; Córdova-Aguilera M.; Cantillano-Malone C.; Arriaza-Ortiz M.; Wegner-Araya A. Article WOS-ESCI SCIELO SCOPUS Andes Pediátrica, Revista Chilena de Pediatría (2020)
Carnitine palmitoyltransferase type 2 deficiency: Novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: Two case reports Avila-Smirnow, D.; Boutron A.; Beytía-Reyes M.D.L.Á.; Contreras-Olea O.; Caicedo-Feijoo A.; Gejman-Enríquez R.; Escobar-Henríquez R.; Förster-Mujica J. Article SCOPUS Journal of Medical Case Reports (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 Avila-Smirnow, D.; Gueneau, L.; Batonnet-Pichon, S.; Delort, F.; Becane, H. -M.; Claeys, K.; Beuvin, M.; Goudeau, B.; Jais, J. -P.; Nelson, I.; Richard, P.; Ben Yaou, R.; Romero, N. B.; Wahbi, K.; Mathis, S.; Voit, T.; Furst, D.; van der Ven, P.; Gil, R.; Vicart, P.; Fardeau, M.; Bonne, G.; Behin, A. Article ISI REVUE NEUROLOGIQUE (2016)
Whole body muscle MRI in SEPN1-related myopathy shows a homogeneous and recognizable pattern. Hankiewicz, Karolina; Carlier, Robert Y; Lazaro, Leila; Linzoain, Javier; Barnerias, Christine; Gómez-Andrés, David; Avila-Smirnow, Daniela; Ferreiro, Ana; Estournet, Brigitte; Guicheney, Pascale; Germain, Dominique P; Richard, Pascale; Bulacio, Sebastian; Mompoint, Dominique; Quijano-Roy, Susana Article Muscle & nerve (2015)
Motor function measure: validation of a short form for young children with neuromuscular diseases. de Lattre, Capucine; Payan, Christine; Vuillerot, Carole; Rippert, Pascal; de Castro, Denis; Bérard, Carole; Poirot, Isabelle; (26); et.al. Article Achives of Physical Medicine and Rehabilitation (2013)
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Dieterich, Klaus; Quijano-Roy, Susana; Monnier, Nicole; Zhou, Jie; Fauré, Julien; Smirnow, Daniela Avila; Carlier, Robert; Laroche, Cécile; Marcorelles, Pascale; Mercier, Sandra; Mégarbané, André; Odent, Sylvie; Romero, Norma; Sternberg, Damien; Marty, Isabelle; Estournet, Brigitte; Jouk, Pierre-Simon; Melki, Judith; Lunardi, Joël Article Human molecular genetics (2013)
Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Quijano-Roy, Susana; Avila-Smirnow, Daniela; Carlier, Robert Y Article Neuromuscular disorders : NMD (2012)
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. Jarraya, Mohamed; Quijano-Roy, Susana; Monnier, Nicole; Béhin, Anthony; Avila-Smirnov, Daniela; Romero, Norma Beatriz; Allamand, Valérie; Richard, Pascale; Barois, Annie; May, Adrien; Estournet, Brigitte; Mercuri, Eugenio; Carlier, Pierre G; Carlier, Robert-Yves Article Neuromuscular disorders : NMD (2012)
Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders Avila-Smirnow, Daniela; Quijano-Roy, Susana; Allamand, Valerie; Bonne, Gisele; Biancalana, Valerie; Dubourg, Odile; Essid, Nouha; Ferreiro, Ana; Guicheney, Pascale; Lebreton, Caroline; Hamida,Mondher; Ioos, Christine; Leturcq, France; Monnier, Nicole; Rubinsztajn, Robert; Romero, Norma Beatriz; Barois, Annie; Safa, Dominique; Viollet, Louis; Wehbi,Samer; Richard, Pascale; Mompoint, Dominique; Estournet, Brigitte; Carlier, Robert Yves Article Neuromuscular Disorders (2011)
A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features Avila-Smirnow, Daniela; Béhin, Anthony; Gueneau, Lucie; Claeys, Kristl; Beuvin, Maud; Goudeau, Bertrand; Richard, Pascale; Ben Yaou, Rabah; Romero, Norma Beatriz; Mathis, Stéphane; Voit, Thomas; Eymard, Bruno; Gil, Roger; Fardeau, Michel; Bonne, Gisele. Article Neuromuscular disorders (2010)
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Vuillaumier-Barrot, S; Quijano-Roy, S; Bouchet-Seraphin, C; Maugenre, S; Peudenier, S; Van den Bergh, P; Marcorelles, P; Avila-Smirnow, D; Chelbi, M; Romero, N B; Carlier, R Y; Estournet, B; Guicheney, P; Seta, N Article Neuromuscular disorders : NMD (2009)
Whole-body muscle MRI in collagen type VI-related myopathies (Ullrich CMD and Bethlem myopathy) Quijano-Roy, Susana; Avila-Smirnow, Daniela; Zayani, Marwen; Chaabane, Skander; Hamida, Mondher; Estournet, Brigitte; Viollet, Louis; Fischer, Dirk; Cuvelier, Pelagia; Ferreiro, Ana; Dehlinger, Nicolas; Romero , Norma Beatriz; Briñas,Laura; Gartioux, Corine; Guicheney, Pascale; Richard, Pascale; Allamand, Valerie; Carlier, Pierre; Carlier, Robert. Article Neuromuscular Disorders (2009)
Litiasis urinaria en pediatría Edda Lagomarsino F; Daniela Avila S; Paulina Baquedano D; Felipe Cavagnaro SM.; Pamela C Article ISI SCIELO Andes Pediátrica, Revista Chilena de Pediatría (2003)


Fibrodysplasia ossificans progressiva. Report of one case Oscar Contreras-Olea; Carola Goecke-Hochberger; Hana Karime Rumié-Carmi; Rosendo Lobo-Avilés; Cecilia Mellado-Sagredo; daniela avila-smirnow CaseReport ISI SCIELO SCOPUS REVISTA MEDICA DE CHILE (2019)

Daniela Avila

Instructor Adjunto

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

Raul Escobar

Académico

Neurología Pediátrica

Pontificia Universidad Católica de Chile

Santiago, Chile

Maria Beytía

Neurólogo pediátrico

pediatria

Pontificia Universidad Católica de Chile

santiago, Chile

Daniela Avila Smirnow

Líneas de Investigación

Educación

Médico Cirujano, PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 2002

Experiencia Académica

Instructor Adjunto Part Time

Profesor Asistente Adjunto Part Time

Experiencia Profesional

Neurólogo Pediátrico

Neurólogo Pediátrico

Neurólogo Pediátrico

Neurólogo Pediátrico

Neurólogo Pediátrico

Académico

Article (15)

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience

Neuropatía ciática en pediatría: Presentación clínica y seguimiento a largo plazo

Síndrome de Guillain Barré e hidrocefalia en un lactante con Síndrome de Wiskott Aldrich

Carnitine palmitoyltransferase type 2 deficiency: Novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: Two case reports

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

Whole body muscle MRI in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Motor function measure: validation of a short form for young children with neuromuscular diseases.

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Whole body muscle MRI protocol: pattern recognition in early onset NM disorders.

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.

Whole-body muscle MRI in collagen type VI-related myopathies (Ullrich CMD and Bethlem myopathy)

Litiasis urinaria en pediatría

CaseReport (1)

Fibrodysplasia ossificans progressiva. Report of one case

Daniela Avila

Raul Escobar

Maria Beytía