Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism

por Capponi, Simona, Stöffler, Nadja, Penney, Ellen B, Grütz, Karen, Nizamuddin, Sheikh, Vermunt, Marit W, Castelijns, Bas, Fernandez-Cerado, Cara, Legarda, G Paul, Velasco-Andrada, M Salvie, Muñoz, Edwin L, Ang, Mark A, Diesta, Cid Czarina E, Creyghton, Menno P, Klein, Christine, Bragg, D Cristopher, De Rijk, Peter, Timmers, H T Marc
Publicado 2021

Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case –control study

por Triviño, J. C., Ceba, A., Rubio-Solsona, E., Serra, D., Sanchez-Guiu, I., Ribas, G., Rosa, R., Cabo, M., Bernad, L., Pita, G., Gonzalez-Neira, A., Legarda, G., Diaz, J. L., García-Vigara, A., Martínez-Aspas, A., Escrig, M., Bermejo, B., Eroles, P., Ibáñez, J., Salas, D., Julve, A., Cano, A., Lluch, A., Miñambres, R., Benitez, J.
Publicado 2020

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

por Campion, Lindsey N., Meijia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.
Publicado 2022

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

por Campion, Lindsey N., Mejia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.
Publicado 2022

Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism

por Fernandez-Cerado, Cara, Legarda, G. Paul, Velasco-Andrada, M. Salvie, Aguil, Abegail, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Soria, Jasmin, Jamora, Roland Dominic G., Acuña, Patrick J., Vanderburg, Charles, Sapp, Ellen, DiFiglia, Marian, Murcar, Micaela G., Campion, Lindsey, Ozelius, Laurie J., Alessi, Amy K., Singh-Bains, Malvindar K., Waldvogel, Henry J., Faull, Richard L. M., Macalintal-Canlas, Regina, Muñoz, Edwin L., Penney, Ellen B., Ang, Mark A., Diesta, Cid Czarina E., Bragg, D. Cristopher, Acuña-Sunshine, Geraldine
Publicado 2021