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Publications

  • Towns C, Richer M, Jasaityte S, Stafford EJ, Joubert J, Antar T, Martinez-Carrasco A, Makarious MB, Casey B, Vitale D, Levine K, Leonard H, Pantazis CB, Screven LA, Hernandez DG, Wegel CE, Solle J, Nalls MA, Blauwendraat C, Singleton AB, Tan MMX, Iwaki H and Morris HR.

    Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

    npj Parkinsons Disease . 9(1): 131-131. Number of citations: 18

    [doi:10.1038/s41531-023-00533-w]

  • 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. Number of citations: 4

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

  • 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): . Number of citations: 1

    [doi:10.3390/ijms241813699]

  • 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): . Number of citations: 13

    [doi:10.1002/smll.202207806]

  • 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. Number of citations: 5

    [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. Number of citations: 1

    [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. Number of citations: 14

    [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. Number of citations: 5

    [doi:10.3389/fped.2023.1184529]

  • Ros, NG, Bailo, PS, Tarancón, 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. Number of citations: 3

    [doi:10.3389/fmolb.2023.1141310]