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Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
Int J Mol Sci. 2022 Sep 7;23(18):10274. doi: 10.3390/ijms231810274.
Int J Mol Sci. 2022.
PMID: 36142184
Free PMC article.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF.
Blasco-Pérez L, et al. Among authors: costa comellas l.
Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289.
Int J Mol Sci. 2022.
PMID: 35955418
Free PMC article.
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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY.
Quijano-Roy S, et al. Among authors: costa comellas l.
J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24.
J Neurol. 2022.
PMID: 34559299
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J.
Alonso-Pérez J, et al. Among authors: costa comellas l.
Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228.
Brain. 2020.
PMID: 32875335
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COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society.
Natera-de Benito D, et al. Among authors: costa comellas l.
J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2.
J Neurol. 2021.
PMID: 33387010
Free PMC article.
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Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings.
Esmel-Vilomara R, Riaza L, Costa-Comellas L, Sabaté-Rotés A, Gran F.
Esmel-Vilomara R, et al. Among authors: costa comellas l.
Pediatr Cardiol. 2024 Apr 30. doi: 10.1007/s00246-024-03488-8. Online ahead of print.
Pediatr Cardiol. 2024.
PMID: 38687374
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