Found: 6

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  • Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.

    Published in:
    2019
    By:
    • Hoz, Carlos Pablo de Fuenmayor-Fernández de la;
    • Hernández-Laín, Aurelio;
    • Olivé, Montse;
    • Sánchez-Calvín, María Teresa;
    • Gonzalo-Martínez, Juan Francisco;
    • Domínguez-González, Cristina;
    • de Fuenmayor-Fernández de la Hoz, Carlos Pablo
    Publication type:
    Letter

  • Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4230, doi. 10.3390/ijms23084230
    By:
    • Alvarez-Mora, Maria Isabel;
    • Blanco-Palmero, Victor Antonio;
    • Quesada-Espinosa, Juan Francisco;
    • Arteche-Lopez, Ana Rosa;
    • Llamas-Velasco, Sara;
    • Palma Milla, Carmen;
    • Lezana Rosales, Jose Miguel;
    • Gomez-Manjon, Irene;
    • Hernandez-Lain, Aurelio;
    • Jimenez Almonacid, Justino;
    • Gil-Fournier, Belén;
    • Ramiro-León, Soraya;
    • González-Sánchez, Marta;
    • Herrero-San Martín, Alejandro Octavio;
    • Pérez-Martínez, David Andrés;
    • Gómez-Tortosa, Estrella;
    • Carro, Eva;
    • Bartolomé, Fernando;
    • Gomez-Rodriguez, Maria Jose;
    • Sanchez-Calvin, María Teresa
    Publication type:
    Article

  • Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

    Published in:
    Nephrology Dialysis Transplantation, 2024, v. 39, n. 8, p. 1288, doi. 10.1093/ndt/gfae002
    By:
    • Bada-Bosch, Teresa;
    • Sevillano, Angel M;
    • Sánchez-Calvin, María Teresa;
    • Palma-Milla, Carmen;
    • Cáceres, Ignacio Alba de;
    • Díaz-Crespo, Francisco;
    • Trujillo, Hernando;
    • Alonso, Marina;
    • Cases-Corona, Clara;
    • Shabaka, Amir;
    • Quesada-Espinosa, Juan Francisco;
    • Lezana-Rosales, José Miguel;
    • Gutiérrez, Eduardo;
    • Fernández-Juárez, Gema;
    • Caravaca-Fontán, Fernando;
    • Praga, Manuel
    Publication type:
    Article

  • First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999
    By:
    • Moreno‐García, Marta;
    • Arteche‐López, Ana Rosa;
    • Álvarez‐Mora, María Isabel;
    • Palma Milla, Carmen;
    • Quesada Espinosa, Juan Francisco;
    • Lezana Rosales, José Miguel;
    • Sánchez Calvín, María Teresa;
    • Gómez Manjón, Irene;
    • Gómez Rodríguez, María José;
    • Mendez‐Guerrero, Antonio;
    • Villarejo‐Galende, Alberto
    Publication type:
    Article

  • PIK3CA‐related overgrowth spectrum: concurrence of multiple anomalies in one patient.

    Published in:
    Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 5, p. 603, doi. 10.1111/ddg.13487
    By:
    • Tous‐Romero, Fátima;
    • Quesada‐Espinosa, Juan Francisco;
    • Sánchez‐Calvín, María Teresa;
    • Ortiz‐Romero, Pablo Luis;
    • Palencia‐Pérez, Sara
    Publication type:
    Article

  • PIK3CA‐assoziiertes Überwuchsspektrum: gleichzeitiges Auftreten mehrerer Anomalien bei einem Patienten.

    Published in:
    Journal der Deutschen Dermatologischen Gesellschaft, 2018, v. 16, n. 5, p. 603, doi. 10.1111/ddg.13487_g
    By:
    • Tous‐Romero, Fátima;
    • Quesada‐Espinosa, Juan Francisco;
    • Sánchez‐Calvín, María Teresa;
    • Ortiz‐Romero, Pablo Luis;
    • Palencia‐Pérez, Sara
    Publication type:
    Article