Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Repossi R, Martín-Ramírez R, Gómez-Bernal F, Medina L, Fariña-Jerónimo H, González-Fernández R, Martín-Vasallo P and Plata-Bello J.

    Evaluation of Zonulin Expression and Its Potential Clinical Significance in Glioblastoma

    Cancers . 16(2): . Nº de citas: 1

    [doi:10.3390/cancers16020356]

  • Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R and Serrano M.

    Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

    SCIENTIFIC REPORTS . 13(1): 22783-22783.

    [doi:10.1038/s41598-023-49518-y]

  • Lorenzo D, Esquerda-Areste M, Bofarull M, Cusi V, Roig H, Bertran J, Carrera J, Torralba F, Cambra-Lasaosa FJ, Vila M, Garriga M and Palau F.

    The reuse of genetic information in research and informed consent

    EUROPEAN JOURNAL OF HUMAN GENETICS . 31(12): 1393-1397. Nº de citas: 1

    [doi:10.1038/s41431-023-01457-y]

  • Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D, Adeniji OA, Agabi OP, Koretsky MJ, Agulanna U, Hall DA, Akinyemi RO, Xie T, Ali MW, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi OM, Standaert DG, Bello AH, Dean MN, Erameh CO, Elsayed I, Farombi TH, Okunoye O, Fawale MB, Billingsley KJ, Imarhiagbe FA, Jerez PA, Iwuozo EU, Baker B, Komolafe MA, Malik L, Nwani PO, Daida K, Nwazor EO, Miano-Burkhardt A, Nyandaiti YW, Fang ZH, Obiabo YO, Kluss JH, Odeniyi OA, Hernandez DG, Odiase FE, Tayebi N, Ojini FI, Sidranksy E, Onwuegbuzie GA, D'Souza AM, Osaigbovo GO, Berhe B, Osemwegie N, Reed X, Oshinaike OO, Leonard HL, Otubogun FM, Alvarado CX, Oyakhire SI, Ozomma SI, Samuel SC, Taiwo FT, Wahab KW, Zubair YA, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls MA, Heilbron K, Norcliffe-Kaufmann L, Blauwendraat C, Houlden H, Singleton A and Okubadejo NU.

    Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.

    LANCET NEUROLOGY . 22(11): 1015-1025.

    [doi:10.1016/S1474-4422(23)00283-1]

  • Pijuan-Marquilles J, Moreno, DF, Yahya, G, Moisa, M, Ul Haq, I, Krukiewicz, K, Mosbah, R, Metwally, K and Cavalu, S.

    Regulatory and pathogenic mechanisms in response to iron deficiency and excess in fungi

    Microbial Biotechnology . 16(11): 2053-2071. Nº de citas: 5

    [doi:10.1111/1751-7915.14346]

  • Ferri-Rufete D, López A, Casas-Alba D, Cuadras-Palleja D, Palau F and Martinez-Monseny T.

    Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 66(11): 104858-104858. Nº de citas: 1

    [doi:10.1016/j.ejmg.2023.104858]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Nº de citas: 8

    [doi:10.1002/ana.26758]

  • Justel M, Jou-Munoz C, Sariego-Jamardo A, Julià-Palacios NA, Ortez-Gonzalez CI, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina-Bergadà A, Dominguez-Carral J, Muchart-Lopez J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estévez-Arias B, Musokhranova U, Olivella M, De Oyarzabal-Sanz AL, Jimenez-Mallebrera C, Domínguez-González C, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973. Nº de citas: 2

    [doi:10.1136/jmg-2022-109132]

  • 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. Nº de citas: 6

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

  • 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]