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

Assessing the association between common functional Nuclear Factor Kappa-b gene polymorphisms (NFKB1, NFKBIZ, NFKBIA) and Alzheimer´s disease.

Autor: Vazquez-Coto D; Laboratorio de Genética, Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address: victoria.alvarez@sespa.es., Perez-Oliveira S; Laboratorio de Genética, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain., Menéndez-González M; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain; Servicio de Neurología Hospital Universitario Central de Asturias, Oviedo 33011, Spain; Universidad de Oviedo., Coto E; Laboratorio de Genética, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain; Universidad de Oviedo., Álvarez V; Laboratorio de Genética, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.

Publikováno v: Behavioural brain research [Behav Brain Res] 2025 Jan 05; Vol. 476, pp. 115264. Date of Electronic Publication: 2024 Sep 23.

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

Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.

Autor: Pérez-Oliveira S; Laboratory of Genetics, Hospital Universitario Central de Asturias, Oviedo, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain., Castilla-Silgado J; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.; Department of Functional Biology (Physiology), University of Oviedo, Oviedo, Spain., Painous C; Parkinson's Disease and Movement Disorders Unit, Department of Neurology, Hospital Clinic of Barcelona, Barcelona, Spain.; UB Neuro Institut de Neurociències, Maeztu Center, University of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Spain., Aldecoa I; Neurological Tissue Bank of the Biobank-Hospital Clinic-FRCB-IDIBAPS, Barcelona, Spain.; Pathology Department, Biomedical Diagnostic Center, Hospital Clínic de Barcelona, University of Barcelona, Barcelona, Spain., Menéndez-González M; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.; Department of Neurology, Hospital Universitario Central de Asturias, Oviedo, Spain.; Department of Medicine, University of Oviedo, Oviedo, Spain., Blázquez-Estrada M; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.; Department of Neurology, Hospital Universitario Central de Asturias, Oviedo, Spain.; Department of Medicine, University of Oviedo, Oviedo, Spain., Corte D; Biobank of Principado de Asturias, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain., Tomás-Zapico C; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.; Department of Functional Biology (Physiology), University of Oviedo, Oviedo, Spain., Compta Y; Parkinson's Disease and Movement Disorders Unit, Department of Neurology, Hospital Clinic of Barcelona, Barcelona, Spain.; UB Neuro Institut de Neurociències, Maeztu Center, University of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Spain., Muñoz E; Parkinson's Disease and Movement Disorders Unit, Department of Neurology, Hospital Clinic of Barcelona, Barcelona, Spain.; UB Neuro Institut de Neurociències, Maeztu Center, University of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FRCB-IDIBAPS), Barcelona, Spain., Lladó A; Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, FRCB-IDIBAPS, University of Barcelona, Barcelona, Spain., Balasa M; Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, FRCB-IDIBAPS, University of Barcelona, Barcelona, Spain., Aragonès G; Neurological Tissue Bank of the Biobank-Hospital Clinic-FRCB-IDIBAPS, Barcelona, Spain., García-González P; Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain., Rosende-Roca M; Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain., Boada M; Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain., Ruíz A; Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain., Pastor P; Unit of Neurodegenerative Diseases, Department of Neurology, University Hospital Germans Trias i Pujol and The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona, Spain., De la Casa-Fages B; Movement Disorders Unit, Department of Neurology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto Investigación Sanitaria Gregorio Marañón, Madrid, Spain., Rabano A; Neuropathology Department and Brain Tissue Bank, CIEN Foundation, Queen Sofia Foundation Alzheimer Center, Madrid, Spain., Sánchez-Valle R; Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, FRCB-IDIBAPS, University of Barcelona, Barcelona, Spain., Molina-Porcel L; UB Neuro Institut de Neurociències, Maeztu Center, University of Barcelona, Barcelona, Spain.; Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, FRCB-IDIBAPS, University of Barcelona, Barcelona, Spain., Álvarez V; Laboratory of Genetics, Hospital Universitario Central de Asturias, Oviedo, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.

Publikováno v: Brain pathology (Zurich, Switzerland) [Brain Pathol] 2024 Jul; Vol. 34 (4), pp. e13250. Date of Electronic Publication: 2024 Feb 28.

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. J., Launer, L., Lauria, A., Lee, C. -Y., Lehtisalo, J., Lerch, O., Lleó, A., Longstreth, W., Lopez, O., de Munain, A. L., Love, S., Löwemark, M., Luckcuck, L., Lunetta, K. L., Ma, Y., Macías, J., Macleod, C. A., Maier, W., Mangialasche, F., Spallazzi, M., Marquié, M., Marshall, R., Martin, E. R., Montes, A. M., Rodríguez, C. M., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Medina, M., Meggy, A., Mehrabian, S., Mendoza, S., Menéndez-González, M., Mir, P., Moebus, S., Mol, M., Molina-Porcel, L., Montrreal, L., Morelli, L., Moreno, F., Morgan, K., Mosley, T., Nöthen, M. M., Muchnik, C., Mukherjee, S., Nacmias, B., Ngandu, T., Nicolas, G., Nordestgaard, B. G., Olaso, R., Orellana, A., Orsini, M., Ortega, G., Padovani, A., Paolo, C., Papenberg, G., Parnetti, L., Pasquier, F., Pastor, P., Peloso, G., Pérez-Cordón, A., Pérez-Tur, J., Pericard, P., Peters, O., Pijnenburg, Y. A. L., Pineda, J. A., Piñol-Ripoll, G., Pisanu, C., Polak, T., Popp, J., Posthuma, D., Priller, J., Puerta, R., Quenez, O., Quintela, I., Thomassen, J. Q., Rábano, A., Rainero, I., Rajabli, F., Ramakers, I., Real, L. M., Reinders, M. J. T., Reitz, C., Reyes-Dumeyer, D., Ridge, P., Riedel-Heller, S., Riederer, P., Roberto, N., Rodriguez-Rodriguez, E., Rongve, A., Allende, I. R., Rosende-Roca, M., Royo, J. L., Rubino, E., Rujescu, D., Sáez, M. E., Sakka, P., Saltvedt, I., Sanabria, Á., Sánchez-Arjona, M. B., Sanchez-Garcia, F., Juan, P. S., Sánchez-Valle, R., Sando, S. B., Sarnowski, C., Satizabal, C. L., Scamosci, M., Scarmeas, N., Scarpini, E., Scheltens, P., Scherbaum, N., Scherer, M., Schmid, M., Schneider, A., Schott, J. M., Selbæk, G., Seripa, D., Serrano, M., Sha, J., Shadrin, A. A., Skrobot, O., Slifer, S., Snijders, G. J. L., Soininen, H., Solfrizzi, V., Solomon, A., Song, Y. E., Sorbi, S., Sotolongo-Grau, O., Spalletta, G., Spottke, A., Squassina, A., Stordal, E., Tartan, J. 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S., Collinge, J., Craig, D., Deloukas, P., Fox, N., Gerrish, A., Gill, M., Gwilliam, R., Harold, D., Hollingworth, P., Johnston, J. A., Jones, L., Lawlor, B., Livingston, G., Lovestone, S., Lupton, M., Lynch, A., Mann, D., Mcguinness, B., Mcquillin, A., O’Donovan, M. C., Owen, M. J., Passmore, P., Powell, J. F., Proitsi, P., Rossor, M., Shaw, C. E., Smith, A. D., Gurling, H., Todd, S., Mummery, C., Ryan, N., Lacidogna, G., Adarmes-Gómez, A., Mauleón, A., Pancho, A., Gailhajenet, A., Lafuente, A., Macias-García, D., Martín, E., Pelejà, E., Carrillo, F., Merlín, I. S., Garrote-Espina, L., Vargas, L., Carrion-Claro, M., Marín, M., Labrador, M., Buendia, M., Alonso, M. 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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