Publications
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Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . : .
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Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong-Moron J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M and Vikkula M.
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
ORPHANET JOURNAL OF RARE DISEASES . 19(1): 213-213.
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Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.
Multi-omics in MECP2 duplication syndrome patients and carriers
EUROPEAN JOURNAL OF NEUROSCIENCE . : .
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Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Number of citations: 1
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Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Number of citations: 1
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Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with YR1-Congenital Myopathy
Journal of neuromuscular diseases . 11(3): 647-653.
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Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
HUMAN GENETICS . 143(3): 279-291.
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Perandones-González H, Rusiñol-Batlle L, Bosquez D, Brunet Ll, Ivars M, Yubero-Siles D, Sarig O, Malki L, Peled A, Sprecher E and Baselga E.
Woolly hair in tricho-dento-osseous syndrome
PEDIATRIC DERMATOLOGY . 40(6): 1094-1096. Number of citations: 1
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Musokhranova U, Grau-Páez C, Vergara C, Rodríguez-Pascau L, Xiol-Viñas C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
JOURNAL OF TRANSLATIONAL MEDICINE . 21(1): 756-756.
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Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
HUMAN GENOMICS . 17(1): 85-85. Number of citations: 2