Found: 5

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  • Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 11063, doi. 10.3390/ijms222011063
    By:
    • Martínez-Pulleiro, Raquel;
    • García-Murias, María;
    • Fidalgo-Díaz, Manuel;
    • García-González, Miguel Ángel
    Publication type:
    Article

  • Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1077, doi. 10.1038/ng.2723
    By:
    • Keller, Annika;
    • Westenberger, Ana;
    • Sobrido, Maria J;
    • García-Murias, Maria;
    • Domingo, Aloysius;
    • Sears, Renee L;
    • Lemos, Roberta R;
    • Ordoñez-Ugalde, Andres;
    • Nicolas, Gael;
    • da Cunha, José E Gomes;
    • Rushing, Elisabeth J;
    • Hugelshofer, Michael;
    • Wurnig, Moritz C;
    • Kaech, Andres;
    • Reimann, Regina;
    • Lohmann, Katja;
    • Dobričić, Valerija;
    • Carracedo, Angel;
    • Petrović, Igor;
    • Miyasaki, Janis M
    Publication type:
    Article

  • 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

    Published in:
    2012
    By:
    • García-Murias M;
    • Quintáns B;
    • Arias M;
    • Seixas AI;
    • Cacheiro P;
    • Tarrío R;
    • Pardo J;
    • Millán MJ;
    • Arias-Rivas S;
    • Blanco-Arias P;
    • Dapena D;
    • Moreira R;
    • Rodríguez-Trelles F;
    • Sequeiros J;
    • Carracedo A;
    • Silveira I;
    • Sobrido MJ;
    • García-Murias, María;
    • Quintáns, Beatriz;
    • Arias, Manuel
    Publication type:
    journal article

  • ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 5, p. 1423, doi. 10.1093/brain/aws069
    By:
    • García-Murias, María;
    • Quintáns, Beatriz;
    • Arias, Manuel;
    • Seixas, Ana I.;
    • Cacheiro, Pilar;
    • Tarrío, Rosa;
    • Pardo, Julio;
    • Millán, María J.;
    • Arias-Rivas, Susana;
    • Blanco-Arias, Patricia;
    • Dapena, Dolores;
    • Moreira, Ramón;
    • Rodríguez-Trelles, Francisco;
    • Sequeiros, Jorge;
    • Carracedo, Ángel;
    • Silveira, Isabel;
    • Sobrido, María J.
    Publication type:
    Article

  • Genetic testing in focal segmental glomerulosclerosis: in whom and when?

    Published in:
    Clinical Kidney Journal, 2023, v. 16, n. 11, p. 2011, doi. 10.1093/ckj/sfad193
    By:
    • Tato, Ana María;
    • Carrera, Noa;
    • García-Murias, Maria;
    • Shabaka, Amir;
    • Ávila, Ana;
    • Mora, María Teresa Mora;
    • Rabasco, Cristina;
    • Soto, Karina;
    • Alvarez, Francisco Jose de la Prada;
    • Fernández-Lorente, Loreto;
    • Rodríguez-Moreno, Antolina;
    • Huerta, Ana;
    • Mon, Carmen;
    • García-Carro, Clara;
    • Cabrera, Fayna González;
    • Navarro, Juan Antonio Martín;
    • Romera, Ana;
    • Gutiérrez, Eduardo;
    • Villacorta, Javier;
    • Lorenzo, Alberto de
    Publication type:
    Article