Recerca

Neurogenètica i Medicina Molecular

Buscador de publicacions

Publicacions

  • Pijuan-Marquilles J, Macià A and Panosa A.

    Live Cell Adhesion, Migration, and Invasion Assays.

    Methods In Molecular Biology (clifton, N.J.) . 2644: 313-329. Nº de cites: 1

    [doi:10.1007/978-1-0716-3052-5_20]

  • Parada-Avendaño I, Salvador-Hernandez H, García RG, Martorell-Sampol L, García-Fontecha CG, Torner-Rubies F and Pérez-López LM.

    Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons

    Joint Diseases and Related Surgery . 34(1): 3-8. Nº de cites: 1

    [doi:10.52312/jdrs.2023.903]

  • Lopez-Mejia, Isabel C, Pijuan-Marquilles J, Navaridas, Raul, Santacana, Maria, Gatius, Sonia, Velasco, Ana, Castella, Gerard, Panosa, Anais, Cabiscol, Elisa, Pinyol, Miquel, Coll, Laura, Bonifaci, Nuria, Pena, Laura Plata, Vidal, August, Villanueva, Alberto, Gari, Eloi, Llobet-Navas, David, Fajas, Lluis, Matias-Guiu, Xavier and Yeramian, Andree.

    Oxidative stress-induced FAK activation contributes to uterine serous carcinoma aggressiveness

    MOLECULAR ONCOLOGY . 17(1): 98-118. Nº de cites: 11

    [doi:10.1002/1878-0261.13346]

  • Lorenzo D, Esquerda-Areste M, Palau F, Cambra-Lasaosa FJ and Grup Investigació en Bioética.

    Ethics and Genomic Editing Using the Crispr-Cas9 Technique: Challenges and Conflicts

    NanoEthics . 16(3): 313-321. Nº de cites: 5

    [doi:10.1007/s11569-022-00425-y]

  • Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD.

    De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder

    CLINICAL GENETICS . 102(5): 434-437. Nº de cites: 2

    [doi:10.1111/cge.14194]

  • Martorell-Sampol L, Macaya A, Pérez-Dueñas B and Ortigoza-Escobar JD.

    Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants

    Movement Disorders Clinical Practice . 9(7): 979-982. Nº de cites: 3

    [doi:10.1002/mdc3.13528]

  • Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Pathological Features in Paediatric Patients with TK2 Deficiency

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Nº de cites: 2

    [doi:10.3390/ijms231911002]

  • 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 cites: 4

    [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 cites: 4

    [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 cites: 40

    [doi:10.1002/mds.29126]