Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Roldan-Molina M, Nolasco-Tovar GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart-Lopez J, Ramírez-Almaraz ML, Martorell-Sampol L, Hernando-Davalillo C, Urreizti R and Serrano M.

    Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(18): .

    [doi:10.3390/ijms241813699]

  • Badosa-Gallego MC, Roldan-Molina M, Fernández-Irigoyen J, Santamaria E and Jimenez-Mallebrera C.

    Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility

    SCIENTIFIC REPORTS . 13(1): 14622-14622. Nº de citas: 2

    [doi:10.1038/s41598-023-41632-1]

  • Blasi D, Gonzalez-Pato N, Rodriguez Rodriguez X, Diez-Zabala I, Srinivasan SY, Camarero N, Esquivias O, Roldan-Molina M, Guasch J, Laromaine A, Gorostiza P, Veciana J and Ratera I.

    Ratiometric Nanothermometer Based on a Radical Excimer for In Vivo Sensing

    Small . 19(32): . Nº de citas: 10

    [doi:10.1002/smll.202207806]

  • 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]

  • 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. Nº de citas: 2

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

  • 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 citas: 7

    [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. Nº de citas: 3

    [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. Nº de citas: 2

    [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 citas: 2

    [doi:10.1136/jmg-2022-108684]