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Neurogenètica i Medicina Molecular

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 9

    [doi:10.1111/cge.14113]

  • Almici E, Chiappini V, López-Marquez A, Badosa-Gallego MC, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento-Osorio A, Roldan-Molina M, Lagunas A, Jimenez-Mallebrera C and Samitier J.

    Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

    Frontiers in Bioengineering and Biotechnology . 10: 851825-851825. Nº de cites: 5

    [doi:10.3389/fbioe.2022.851825]

  • López-Marquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldan-Molina M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): 4410. Nº de cites: 12

    [doi:10.3390/ijms23084410]

  • Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M and Spain_PD consortium.

    Smoking is associated with age at disease onset in Parkinson's disease

    PARKINSONISM & RELATED DISORDERS . 97: 79-83. Nº de cites: 3

    [doi:10.1016/j.parkreldis.2022.03.005]

  • Vela-Desojo L, Urso D, Osuna-Lopez M and Hoenicka J.

    Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review

    Journal of Clinical Medicine . 11(6): .

    [doi:10.3390/jcm11061590]

  • Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, 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. Nº de cites: 3

    [doi:10.1016/j.ejmg.2022.104442]

  • Coronado-Parra T, Roldan-Molina M and Aboal M.

    Confocal Microscopy in Ecophysiological Studies of Algae: A Door to Understanding Autofluorescence in Red Algae

    Microscopy and Microanalysis . 28(1): 218-226. Nº de cites: 2

    [doi:10.1017/S1431927621013660]

  • Soliani L, Martorell-Sampol L, Yubero-Siles D, Verges C, Petit V and Ortigoza-Escobar JD.

    Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells

    Movement Disorders Clinical Practice . 9(2): 252-254. Nº de cites: 1

    [doi:10.1002/mdc3.13391]

  • Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

    FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Nº de cites: 11

    [doi:10.3389/fnins.2022.784880]

  • Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.

    Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease

    Journal of Translational Genetics and Genomics . 6(3): 333-352. Nº de cites: 3

    [doi:10.20517/jtgg.2022.04]