A variant in GRN of Spanish origin presenting with heterogeneous phenotypes

Autor: Menéndez-González, M. ^⁎, García-Martínez, A., Fernández-Vega, I., Pitiot, A., Álvarez, V.

Publikováno v: In Neurología (English Edition) September 2022

Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort

Autor: Adarmes, A.D., Almeria, M., Alonso Losada, G., Alonso Cánovas, A., Alonso-Frech, F., Arribas, S., Ascunde Vidondo, A., Aquilar, M., Ávila, M.A., Bernardo Lambrich, N., Bejr-Kasem, H., Blázquez Estrada, M., Botí, M., Cabello González, C., Cabo López, I., Caballol, N., Cámara Lorenzo, A., Carrillo, F., Catalán, M.J., Clavero, P., Cortina Fernández, A., Crespo Cuevas, A., de Fábregues-Boixar, O., Díez-Fairen, M., Erro, E., Estelrich Peyret, E., Fernández Guillán, N., Gámez, P., Gallego, M., García Caldentey, J., García Campos, C., García Moreno, J.M., Gastón, I., Gómez Garre, M.P., González Aloy, J., González-Aramburu, I., González Ardura, J., González García, B., González Palmás, M.J., González Toledo, G.R., Golpe Díaz, A., Grau Solá, M., Guardia, G., Hernández-Vara, J., Horta Barba, A., Infante, J., Jesús, S., Kulisevsky, J., Kurtis, M., Labandeira, C., Labrador, M.A., Lacruz, F., Lage Castro, M., Legarda, I., López Ariztegui, N., López Díaz, L.M., López Manzanares, L., López Seoane, B., Martí Andres, G., Martí, M.J., Martínez-Castrillo, J.C., McAfee, D., Meitín, M.T., Menéndez González, M., Méndez del Barrio, C., Miranda Santiago, J., Morales Casado, M.I., Moreno Diéguez, A., Nogueira, V., Novo Amado, A., Novo Ponte, S., Ordás, C., Pagonabarraga, J., Pareés, I., Pascual-Sedano, B., Pastor, P., Pérez Fuertes, A., Pérez Noguera, R., Planellas, Ll, Pol Fuster, J., Prats, M.A., Prieto Jurczynska, C., Puente, V., Redondo Rafales, N., Rodríguez Méndez, L., Roldán, F., Ruíz De Arcos, M., Ruíz Martínez, J., Sánchez Alonso, P., Sánchez-Carpintero, M., Sánchez Díez, G., Sánchez Rodríguez, A., Santacruz, P., Segundo Rodríguez, J.C., Seijo, M., Serarols, A., Sierra Peña, M., Tartari, J.P., Vargas, L., Vázquez Gómez, R., Villanueva, C., Vives, B., Villar, M.D., Santos García, D., de Deus Fonticoba, T., Suárez Castro, E., Borrué, C., Mata, M., Solano Vila, B., Cots Foraster, A., Álvarez Sauco, M., Rodríguez Pérez, A.B., Vela, L., Macías, Y., Escalante, S., Esteve, P., Reverté Villarroya, S., Cubo, E., Casas, E., Arnaiz, S., Carrillo Padilla, F., Pueyo Morlans, M., Mir, P., Martinez-Martin, P.

Publikováno v: In Parkinsonism and Related Disorders September 2019 66:151-157

New insights into the genetic etiology of Alzheimer's disease and related dementias

Autor: Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., Yaqub, A., Prokic, I., Chapuis, J., Ahmad, S., Giedraitis, V., Aarsland, D., Garcia-Gonzalez, P., Abdelnour, C., Alarcón-Martín, E., Alcolea, D., Alegret, M., Alvarez, I., Álvarez, V., Armstrong, N. J., Tsolaki, A., Antúnez, C., Appollonio, I., Arcaro, M., Archetti, S., Pastor, A. A., Arosio, B., Athanasiu, L., Bailly, H., Banaj, N., Baquero, M., Barral, S., Beiser, A., Pastor, A. B., Below, J. E., Benchek, P., Benussi, L., Berr, C., Besse, C., Bessi, V., Binetti, G., Bizarro, A., Blesa, R., Boada, M., Boerwinkle, E., Borroni, B., Boschi, S., Bossù, P., Bråthen, G., Bressler, J., Bresner, C., Brodaty, H., Brookes, K. J., Brusco, L. I., Buiza-Rueda, D., Bûrger, K., Burholt, V., Bush, W. S., Calero, M., Cantwell, L. B., Chene, G., Chung, J., Cuccaro, M. L., Carracedo, Á., Cecchetti, R., Cervera-Carles, L., Charbonnier, C., Chen, H. -H., Chillotti, C., Ciccone, S., Claassen, J. A. H. R., Clark, C., Conti, E., Corma-Gómez, A., Costantini, E., Custodero, C., Daian, D., Dalmasso, M. C., Daniele, A., Dardiotis, E., Dartigues, J. -F., de Deyn, P. P., de Paiva Lopes, K., de Witte, L. D., Debette, S., Deckert, J., del Ser, T., Denning, N., Destefano, A., Dichgans, M., Diehl-Schmid, J., Diez-Fairen, M., Rossi, P. D., Djurovic, S., Duron, E., Düzel, E., Dufouil, C., Eiriksdottir, G., Engelborghs, S., Escott-Price, V., Espinosa, A., Ewers, M., Faber, K. M., Fabrizio, T., Nielsen, S. F., Fardo, D. W., Farotti, L., Fenoglio, C., Fernández-Fuertes, M., Ferrari, R., Ferreira, C. B., Ferri, E., Fin, B., Fischer, P., Fladby, T., Fließbach, K., Fongang, B., Fornage, M., Fortea, J., Foroud, T. M., Fostinelli, S., Fox, N. C., Franco-Macías, E., Bullido, M. J., Frank-García, A., Froelich, L., Fulton-Howard, B., Galimberti, D., García-Alberca, J. M., García-González, P., Garcia-Madrona, S., Garcia-Ribas, G., Ghidoni, R., Giegling, I., Giorgio, G., Goate, A. M., Goldhardt, O., Gomez-Fonseca, D., González-Pérez, A., Graff, C., Grande, G., Green, E., Grimmer, T., Grünblatt, E., Grunin, M., Gudnason, V., Guetta-Baranes, T., Haapasalo, A., Hadjigeorgiou, G., Haines, J. L., Hamilton-Nelson, K. L., Hampel, H., Hanon, O., Hardy, J., Hartmann, A. M., Hausner, L., Harwood, J., Heilmann-Heimbach, S., Helisalmi, S., Heneka, M. T., Hernández, I., Herrmann, M. J., Hoffmann, P., Holmes, C., Holstege, H., Vilas, R. H., Hulsman, M., Humphrey, J., Biessels, G. J., Jian, X., Johansson, C., Jun, G. R., Kastumata, Y., Kauwe, J., Kehoe, P. G., Kilander, L., Ståhlbom, A. K., Kivipelto, M., Koivisto, A., Kornhuber, J., Kosmidis, M. H., Kukull, W. A., Kuksa, P. P., Kunkle, B. W., Kuzma, A. B., Lage, C., Laukka, E. 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Publikováno v: EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Nature Genetics, 54(4), 412-436. Nature Publishing Group
Nature Genetics, 54(4)
Nature genetics, 54(4), 412-436. Nature Publishing Group
Nature Genetics, 54, 4, pp. 412-436
Nature Genetics
Nature Genetics, 54, 412-436
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSIC
EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Nature genetics
2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature genetics 54(4), 412-436 (2022). doi:10.1038/s41588-022-01024-z
Bellenguez, C, Küçükali, F, Jansen, I E, Kleineidam, L, Moreno-Grau, S, Amin, N, Naj, A C, Campos-Martin, R, Grenier-Boley, B, Andrade, V, Holmans, P A, Boland, A, Damotte, V, van der Lee, S J, Costa, M R, Kuulasmaa, T, Yang, Q, de Rojas, I, Bis, J C, Yaqub, A, Prokic, I, Chapuis, J, Ahmad, S, Giedraitis, V, Aarsland, D, Garcia-Gonzalez, P, Abdelnour, C, Alarcón-Martín, E, Alcolea, D, Alegret, M, Alvarez, I, Álvarez, V, Armstrong, N J, Tsolaki, A, Antúnez, C, Appollonio, I, Arcaro, M, Archetti, S, Pastor, A A, Arosio, B, Athanasiu, L, Bailly, H, Banaj, N, Baquero, M, Barral, S, Beiser, A, Nielsen, S F, Nordestgaard, B G, Sáez, M E, Frikke-Schmidt, R, EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z

25 páginas, 6 figuras, 2 tablas
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We perfor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be61a02e6ef8a704478fd3f819f507d
https://doi.org/10.1038/s41588-022-01024-z

Epilepsia mioclónica en el síndrome de Down y en la enfermedad de Alzheimer

Autor: Aller-Alvarez, J.S., Menéndez-González, M., Ribacoba-Montero, R., Salvado, M., Vega, V., Suárez-Moro, R., Sueiras, M., Toledo, M., Salas-Puig, J., Álvarez-Sabin, J.

Publikováno v: In Neurología March 2017 32(2):69-73

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