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Publications

  • Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R and Pérez-Dueñas B.

    The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

    CLINICAL GENETICS . 102(1): 40-55.

    [doi:10.1111/cge.14138]

  • 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.

    [doi:10.1016/j.jmoldx.2022.02.003]

  • 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.

    [doi:10.1111/cge.14113]

  • Siqueira E, Obiols-Guardia A, Jorge-Torres OC, Oliveira-Mateos C, Soler M, Ramesh-Kumar D, Setién F, van Rossum D, Pascual-Alonso A, Xiol-Viñas C, Ivan C, Shimizu M, Armstrong-Moron J, Calin GA, Pasterkamp RJ, Esteller M and Guil S.

    Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome

    MOLECULAR THERAPY-NUCLEIC ACIDS . 27: 621-644. Number of citations: 1

    [doi:10.1016/j.omtn.2021.12.030]

  • Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez-Camacho A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou Alexandros, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.

    The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442.

    [doi:10.1016/j.ejmg.2022.104442]

  • Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch-Iriberri R, Yoldi ME, O'Callaghan-Gordo M, Garcia-Cazorla A, Armstrong-Moron J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Alfons Macaya, Pujol A and GWMD working group.

    Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology . 98(9): 912-923.

    [doi:10.1212/WNL.0000000000013278]

  • Migliorelli C, Medina-Rivera IF, Bachiller A, Tost A, Alonso Lopez JF, López-Sala A, Armstrong-Moron J, O'Callaghan-Gordo M, Pineda M, Mañanas MA, Romero S and Garcia-Cazorla A.

    Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.

    J INTELL DISABIL RES . 66(3): 213-224.

    [doi:10.1111/jir.12902]

  • Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ and Couce ML.

    Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(24): 13484. Number of citations: 1

    [doi:10.3390/ijms222413484]

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    GENES . 12(10): 1590.

    [doi:10.3390/genes12101590]

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.

    PARKINSONISM & RELATED DISORDERS . 91: 19-22.

    [doi:10.1016/j.parkreldis.2021.08.010]