Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Beatriz Mínguez Rodríguez, Molera C, Martorell-Sampol L, Romero RG, Rivero GC and Martín-de-Carpi J.

    Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort

    GASTROENTEROLOGIA Y HEPATOLOGIA . 45(8): 585-592. Nº de citas: 3

    [doi:10.1016/j.gastrohep.2021.12.005]

  • Pata S, Flores-Rojas K, Gil A, López-Laso E, Marti-Sanchez L, Baide-Mairena H, Pérez-Dueñas B and Gil-Campos M.

    Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 17(1): 340-340. Nº de citas: 1

    [doi:10.1186/s13023-022-02468-6]

  • Schumacher-Schuh AF, Bieger A, Okunoye O, Mok KY, Lim SY, Bardien S, Ahmad-Annuar A, Santos-Lobato BL, Strelow MZ, Salama M, Rao SC, Zewde YZ, Dindayal S, Azar J, Prashanth LK, Rajan R, Noyce AJ, Okubadejo N, Rizig M, Lesage S and Mata IF.

    Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.

    MOVEMENT DISORDERS . 37(8): 1593-1604. Nº de citas: 33

    [doi:10.1002/mds.29126]

  • Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Català-Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG and Kohl S.

    The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA . 119(27): 211553811. Nº de citas: 8

    [doi:10.1073/pnas.2115538119]

  • Rubies C, Batlle M, Sanz-de la Garza M, Dantas AP, Jorba I, Fernandez-Isern G, Sangüesa G, Abuli M, Brugada J, Sitges M, Navajas D, Mont L and Guasch E.

    Long-Term Strenuous Exercise Promotes Vascular Injury by Selectively Damaging the Tunica Media Experimental Evidence

    JACC-BASIC TO TRANSLATIONAL SCIENCE . 7(7): 681-693. Nº de citas: 14

    [doi:10.1016/j.jacbts.2022.02.017]

  • Castroflorio E, Pérez Berná AJ, López-Marquez A, Badosa-Gallego MC, Loza-Alvarez P, Roldan-Molina M and Jimenez-Mallebrera C.

    The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(14): 1-15. Nº de citas: 4

    [doi:10.3390/ijms23147651]

  • Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Porto FBO, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Cumhur Sener E, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B and Kohl S.

    Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

    HUMAN MUTATION . 43(7): 832-858. Nº de citas: 11

    [doi:10.1002/humu.24371]

  • Cuadrado-Vilanova M, Liu J, Paco-Mercader S, Aschero MR, Burgeño-Sandoval V, Sirab N, Pascual-Pastó G, Correa G, Balaguer-Lluna L, Castillo H, Pérez-Jaume S, Muñoz-Aznar O, Roldan-Molina M, Suñol M, Schaiquevich P, Aerts I, Doz F, Cassoux N, Lubieniecki F, Benitez-Ribas D, Lavarino C, Mora J, Chantada G, Català-Mora J, Radvanyi F and Carcaboso AM.

    Identification of immunosuppressive factors in retinoblastoma cell secretomes and aqueous humor from patients

    JOURNAL OF PATHOLOGY . 257(3): 327-339. Nº de citas: 7

    [doi:10.1002/path.5893]

  • Fernandez-Isern G, Yubero-Siles D, Palau F and Armstrong-Moron J.

    Molecular Modelling Hurdle in the Next-Generation Sequencing Era.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(13): .

    [doi:10.3390/ijms23137176]

  • Muñoz-Lasso DC, Mollá B, Sáenz-Gamboa JJ, Insuasty E, de la Iglesia-Vaya M, Pook MA, Pallardó FV, Palau F and Gonzalez-Cabo P.

    Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach

    FRONTIERS IN MOLECULAR NEUROSCIENCE . 15: 912780-912780. Nº de citas: 2

    [doi:10.3389/fnmol.2022.912780]