Publications
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Vidal-Sanahuja R, Ortez-Gonzalez CI, Nascimento-Osorio A and Colomer J.
McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance
REVISTA DE NEUROLOGIA . 75(6): 129-136.
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Koehorst E, Odria R, Capó J, Núñez-Manchón J, Arbex A, Almendrote M, Linares-Pardo I, Natera-de Benito D, Saez V, Nascimento-Osorio A, Ortez-Gonzalez CI, Rubio MÁ, Díaz-Manera J, Alonso-Pérez J, Lucente G, Rodriguez-Palmero A, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G and Suelves M.
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation
Biomedicines . 10(6): 1372. Number of citations: 2
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Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Number of citations: 8
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 9
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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: 4
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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: 10
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Hernández-Ainsa C, Nascimento-Osorio A, Jou-Munoz C, Artuch-Iriberri R, Montoya C, Ruiz-Pesini E and Emperador S.
Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene
STEM CELL RESEARCH . 59: 102632-102632.
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Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Number of citations: 11
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Parasyri, M, Brandstroem, P, Uusimaa, J, Ostergaard, E, Hikmat, O, Isohanni, P, Naess, K, de Coo, IFM, Nascimento-Osorio A, Nuutinen, M, Lindberg, C, Bindoff, LA, Tulinius, M, Darin, N and Sofou, K.
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Kidney Diseases . : 148-159. Number of citations: 7
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Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.
Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease
Journal of Translational Genetics and Genomics . 6(3): 333-352. Number of citations: 3