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16 results on '"C. Paradas"'

1. P.86 Spanish Pompe Registry: Update of the 122 patients included

Author

R. Martínez Marín, D. Reyes Leiva, A. Nascimento, N. Muelas, C. Dominguez, C. Paradas, M. Olivé, J. Grau, M. Barba Romero, S. Pascual Pascual, R. Blanco Lago, M. Usón, A. Gutiérrez, J. Barcena Llona, A. Colomé, A. López de Munuain, F. Pla-Junca, S. Segovia Simón, and J. Díaz Manera

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2022

2. P.85 Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry

Author

R. Martínez Marín, J. Sánchez Caro, D. Reyes Leiva, A. Nascimento, N. Muelas, C. Dominguez, C. Paradas, M. Olivé, S. Pascual Pascual, M. Barba Romero, M. Gomez, M. Usón, R. Blanco, J. Barcena Llona, A. López de Munuain, A. Gutiérrez, A. Colomé, F. Pla-Junca, S. Segovia Simón, and J. Díaz Manera

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2022

4. CLINICAL RESEARCH

Author

M. Schiava, C. Ikenaga, T. Stojkovic, M. Caballero, I. Nishino, C. Paradas, A. Alonso-Jimenez, A. Kostera-Pruszczyk, F. Miralles Morell, J. De Bleecker, C. Domínguez-Gonzalez, G. Papadimas, K. Claeys, P. Laforet, A. Toscano, E. Pál, M. Farrugia, G. Tasca, C. Weihl, and J. Diaz Manera

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

5. POMPE DISEASE

Author

D. Reyes-Leiva, A. Nascimento, N. Muelas, C. Domínguez-González, C. Paradas, M. Olivé, J. Grau, M. Barba-Romero, M. Gómez-Caravaca, J. Diaz-Manera, and null S. Spanish Pompe Study Group

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

6. LGMD

Author

U. Moore, M. James, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Mori Yoshimura, E. Bravver, E. Pegoraro, J. Mendell, K. Bushby, V. Straub, and A. Mayhew

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

7. IMAGING

Author

C. Dominguez-Gonzalez, R. Fernandez-Torron, U. Moore, B. Velez, J. Alonso Perez, L. Gonzalez-Mera, M. Olivé, J. García García, G. Morís, J. León Hernández, N. Muelas, C. de Fuenmayor Fernández de la H, M. Martín, J. Díaz-Manera, and C. Paradas

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2021

8. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Author

M. Garibaldi, F. Fattori, C. Bortolotti, G. Brochier, C. Labasse, M. Verardo, E. Bertini, E. Pennisi, C. Paradas, N. Romero, and G. Antonini

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2018

9. LIMB-GIRDLE MUSCULAR DYSTROPHY I

Author

M. James, A. Mayhew, M. Jacobs, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz Manera, E. Pegoraro, J. Mendell, K. Bushby, and V. Straub

Subjects
Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published
2018

10. Dystroglycanopathy: Description of the first patient cohort in Spain

Author

M. Madruga Garrido, E. Martínez Fernández, B. Muñoz Cabello, C. Paradas López, P. Carbonell Corvillo, E. Rivas Infante, A.D. Adarmes Gómez, E. Servián Morilla, M. Ley Martos, L. Villarreal Pérez, J. Fernández Ramos, C. Márquez Infante, and L. Arrabal Fernández

Subjects
Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Cohort, medicine, Neurology (clinical), business, Genetics (clinical)
Published
2016

11. Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies

Author

L. Villareal-Perez, J. Rodriguez-Aguilera, P. Carbonell-Corvillo, Celedonio Márquez-Infante, A. Carvajal-Hernandez, I. Rojas-Marcos, A. Cortes-Rodriguez, C. Paradas-Lopez, E. Martinez-Fernandez, E. Rivas-Infante, L. Lebrato-Hernandez, M. Cascajo-Almenara, and M. Martin-Casanueva

Subjects
Mitochondrial respiratory chain, Neurology, Mitochondrial myopathy, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Biology, medicine.disease, Molecular biology, Value (mathematics), Genetics (clinical)
Published
2016

12. A novel MYH7 mutation causing the Laing distal myopathy in Andalucia

Author

M. Cabrera Serrano, A. Miranda-Vizuete, A. Martínez Mir, A. Gil-Gálvez, C. Márquez Infante, Emilia Servián-Morilla, L. Villarreal Pérez, M.I. Chamorro Muñoz, G. García Martín, C. Paradas López, P. Carbonell Corvillo, E. Tristán Clavijo, and E. Rivas Infante

Subjects
Genetics, LAING DISTAL MYOPATHY, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, MYH7, Neurology (clinical), business, Genetics (clinical)
Published
2016

14. Sporadic late-onset nemaline myopathy in an aged patient

Author

R. Avila Polo, E. Rivas Infante, C. Paradas López, and R. Morgado Linares

Subjects
Pediatrics, medicine.medical_specialty, Nemaline myopathy, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Late onset, Neurology (clinical), medicine.disease, business, Genetics (clinical)
Published
2016

15. G.P.6.01 Measurements of progression in dysferlin myopathies: A preliminary prospective quantitative study

Author

C. Paradas, C. Serrano-Munuera, J. Llauger, M. Martı´nez-Lage, C. Márquez, P. Gallano, N. De Luna, R. Rojas-Garcı´a, E. Gallardo, and I. Illa

Subjects
Dysferlin, Pathology, medicine.medical_specialty, Neurology, biology, business.industry, Pediatrics, Perinatology and Child Health, biology.protein, Medicine, Neurology (clinical), business, Genetics (clinical)
Published
2009

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