Publicaciones
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Rey-Barroso L, Roldan-Molina M, Frías M, Burgos-Fernández FJ, Isola I, Ruiz-Llobet A, Sarrate E and Vilaseca M.
Optimized protocol for intracellular labeling of red blood cells with anti-hemoglobin F for confocal microscopy analysis.
MICRON . 199: 103913-103913.
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Epifani F, Cabus, Lluc, Nolasco-Tovar GA, Bolasell M, Perez, Jennifer, Alcalá-San Martin A, Fernandez, Patricia, Lizano, Esther, Marquez, Gisela, Belmonte, Sonia, Carbonell-Sala, Silvia, Lagarde, Julien, Curado, Joao, Hernando-Davalillo C and Serrano M.
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.
JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): .
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Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
JOURNAL OF CLINICAL INVESTIGATION . 135(19): .
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Pascual-Rodriguez A, Moulka, T, de Fàbregues, O, Repossi, R, García-Ruiz, PJ, Ortolano, S, De Lucca, M, Vela-Desojo, L, Alves-Villar, M, Frías, M, Feliz-Feliz, C, Roldan-Molina M, Olival, J, Fernandez-Isern G, Palau F, Pijuan-Marquilles J and Hoenicka J.
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 26(19): .
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Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology . : .
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Domínguez-Rovira X, Arnau-Collell C, Gonfaus-Ortiz G, Llargués-Sistac G, Muñoz J, Llopis A, Soares de Lima Y, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Cuatrecasas M, Carballal S, López-Novo A, Fernandez-Isern G, Castells A, Bujanda L, Capellà G, Cubiella J, Rodríguez-Alcalde D, Valle L, Balaguer F, Ruiz-Ponte C, Bonjoch L and Castellví-Bel S.
Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome
INTERNATIONAL JOURNAL OF CANCER . 157(6): 1154-1167.
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Brufau-Cochs M, Deyà-Martinez A, Vukov MÁ, Marti-Sanchez L, Fortuny-Guasch C and Baselga E.
Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1)
PEDIATRIC DERMATOLOGY . : .
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Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M.
The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.
Computers in biology and medicine . 196(Pt A): 110610-110610.
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Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
ANNALS OF NEUROLOGY . : .
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Alvaro S, Castillo D, Genovés-Escarré J, Prados ED, Levorato M, Albertí A, Díaz Á, Sara Cardelus Vidal and Martorell-Sampol L.
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.
JOURNAL OF HUMAN GENETICS . 70(8): 395-403.
