Publicaciones
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Carrera-García L, Muchart-Lopez J, Lazaro JJ, Exposito-Escudero JM, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D and Nascimento-Osorio A.
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 31: 92-101. Nº de citas: 20
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Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
PEDIATRIC NEUROLOGY . 115: 50-65. Nº de citas: 21
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Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan-Marquilles J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Nº de citas: 14
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Estévez-Arias B, Segarra-Casas A, Seoane P, Romo L, Polavarapu K, Nectoux J, Caballero-Ávila M, Austin-Tse C, Konyukh M, Obeid K, Hinderhofer K, Aksel-Kilicarslan O, Matalonga L, Rojano E, Ranea JA, O'Heir E, Singer-Berk M, O'Leary M, O'Donnell-Luria A, Spinazzi M, Verebi C, Leturcq F, Van Den Bergh P, Specht S, de Luna N, de Castro M, Roggenbuck J, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Ortez-Gonzalez CI, Llansó L, Hernández-Laín A, Straub V, Gallano P, Nascimento-Osorio A, Evangelista T, Olivé M, Domínguez-González C, Lochmüller H, Malfatti E, Töpf A, Gallardo E, González-Quereda L and Natera-de Benito D.
A Recurrent 3'UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies.
ANNALS OF NEUROLOGY . : .