Publications
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Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernandez-Isern G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L and Castellvi-Bel S.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome
JOURNAL OF MEDICAL GENETICS . 60(6): 557-567. Number of citations: 3
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Vera-Montecinos A, Galiano-Landeira J, Roldan-Molina M, Vidal-Domènech F, Claro E and Ramos B.
A Novel Localization of METTL7A in Bergmann Glial Cells in Human Cerebellum
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(9): . Number of citations: 5
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Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny T, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M and Sadikovic B.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
EPIGENOMICS . 15(6): 351-368. Number of citations: 6
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Rey-Barroso L, Roldan-Molina M, Burgos-Fernández FJ, Isola I, Ruiz-Llobet A, Gassiot S, Sarrate E and Vilaseca MA.
Membrane Protein Detection and Morphological Analysis of Red Blood Cells in Hereditary Spherocytosis by Confocal Laser Scanning Microscopy
Microscopy and Microanalysis . 29(2): 777-785. Number of citations: 3
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Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.
Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature
Movement Disorders Clinical Practice . 10(4): 547-557. Number of citations: 5
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Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
clinical case reports . 11(4): . Number of citations: 1
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Codina-Bergadà A, Roldan-Molina M, Natera-de Benito D, Ortez-Gonzalez CI, Planas R, Matalonga L, Cuadras-Palleja D, Carrera-García L, Exposito-Escudero JM, Márquez-Pereira JM, Jimenez-Mallebrera C, M Porta J, Nascimento-Osorio A and Jou-Munoz C.
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): .
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Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F.
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites
BIOLOGY OPEN . 12(4): . Number of citations: 7
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Vila E, Pinacho R, Prades R, Tarragó T, Castro E, Munarriz-Cuezva E, Meana JJ, Eugui-Anta A, Roldan-Molina M, Vera-Montecinos A and Ramos B.
Inhibition of Prolyl Oligopeptidase Restores Prohibitin 2 Levels in Psychosis Models: Relationship to Cognitive Deficits in Schizophrenia
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): . Number of citations: 3
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Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
ACTA NEUROPATHOLOGICA . 145(4): 479-496. Number of citations: 4