Publications
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Badosa-Gallego MC, Roldan-Molina M, Fernández-Irigoyen J, Santamaria E and Jimenez-Mallebrera C.
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility
SCIENTIFIC REPORTS . 13(1): 14622-14622. Number of citations: 2
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Trifunov S, Natera-de Benito D, Carrera-García L, Codina-Bergadà A, Exposito-Escudero JM, Ortez-Gonzalez CI, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa-Gallego MC, Balsells S, Alcolea D, Nascimento-Osorio A and Jimenez-Mallebrera C.
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
Journal of neuromuscular diseases . 10(4): 653-665. Number of citations: 5
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Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.
Pathological Features in Paediatric Patients with TK2 Deficiency
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Number of citations: 1
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Castroflorio E, Pérez Berná AJ, López-Marquez A, Badosa-Gallego MC, Loza-Alvarez P, Roldan-Molina M and Jimenez-Mallebrera C.
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(14): 1-15. Number of citations: 3
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Almici E, Chiappini V, López-Marquez A, Badosa-Gallego MC, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento-Osorio A, Roldan-Molina M, Lagunas A, Jimenez-Mallebrera C and Samitier J.
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
Frontiers in Bioengineering and Biotechnology . 10: 851825-851825. Number of citations: 3
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López-Marquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldan-Molina M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C.
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): 4410. Number of citations: 9
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Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
CLINICAL CHEMISTRY . 67(8): 1113-1121. Number of citations: 9
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de Fuenmayor-Fernández de la Hoz CP, Morís G, Jimenez-Mallebrera C, Badosa-Gallego MC, Hernández-Laín A, Blázquez Encinar A, Martín MÁ and Domínguez-González C.
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
Molecular genetics and metabolism reports . 26: 100701-100701. Number of citations: 4
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Bazaga A, Roldan-Molina M, Badosa-Gallego MC, Jimenez-Mallebrera C and Porta JM.
A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies
APPLIED SOFT COMPUTING . 85: 105772. Number of citations: 5
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Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa-Gallego MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ and Paradas C.
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
ORPHANET JOURNAL OF RARE DISEASES . 14: 100-100. Number of citations: 31