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Neurogenètica i Medicina Molecular

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Publicacions

  • Jana Domínguez Carral, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of NAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004.

    [doi:10.1002/ana.26758]

  • León M, Prieto J, Molina-Navarro MM, García-García F, Barneo-Muñoz M, Ponsoda X, Sáez R, Palau F, Dopazo J, Izpisua Belmonte JC and Torres J.

    Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response.

    Cell Death Discovery . 9(1): 217-217.

    [doi:10.1038/s41420-023-01531-w]

  • Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.

    Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    PEDIATRIC NEUROLOGY . 144: 11-15.

    [doi:10.1016/j.pediatrneurol.2023.03.004]

  • Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, López A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny T, Lorda-Sanchez I and Almoguera B.

    Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

    JOURNAL OF MEDICAL GENETICS . 60(7): 644-654. Nº de cites: 1

    [doi:10.1136/jmg-2022-108632]

  • Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.

    Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

    Frontiers in pediatrics . 11: 1184529-1184529.

    [doi:10.3389/fped.2023.1184529]

  • Ros, NG, Bailo, PS, Tarancon, RG, Martorell-Sampol L and Alvarez, SI.

    No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon

    advances in laboratory medicine-avances en medicina de laboratorio . 4(2): 185-189.

    [doi:10.1515/almed-2022-0079]

  • Vicente-Garces C, Maynou-Fernández J, Fernandez-Isern G, Esperanza-Cebollada E, Torrebadell-Burriel M, Català-Temprano A, Rives-Solà S, Camós-Guijosa M and Vega-García N.

    Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia

    Frontiers in Molecular Biosciences . 10: 1141310-1141310.

    [doi:10.3389/fmolb.2023.1141310]

  • 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. Nº de cites: 1

    [doi:10.1136/jmg-2022-108684]

  • 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): .

    [doi:10.3390/ijms24098405]

  • 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. Nº de cites: 1

    [doi:10.2217/epi-2023-0079]