Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers

Por Alquézar, Carolina, de la Encarnación, Ana, Moreno, Fermín, de Munain, Adolfo López, Martín-Requero, Ángeles
Publicado no J Psychiatry Neurosci (2016)

Progressive changes in non-coding RNA profile in leucocytes with age

Por Muñoz-Culla, Maider, Irizar, Haritz, Gorostidi, Ana, Alberro, Ainhoa, Osorio-Querejeta, Iñaki, Ruiz-Martínez, Javier, Olascoaga, Javier, de Munain, Adolfo López, Otaegui, David
Publicado no Aging (Albany NY) (2017)

PRION PROTEIN CODON 129 POLYMORPHISM MODIFIES AGE AT ONSET OF FRONTOTEMPORAL DEMENTIA WITH THE C.709-1G>A PROGRANULIN MUTATION

Por Moreno, Fermín, Alzualde, Ainhoa, Camblor, Pablo Martínez, Barandiaran, Myriam, Van Deerlin, Vivianna M., Gabilondo, Alazne, Martí Massó, José F., de Munain, Adolfo López, Indakoetxea, Begoña
Publicado em 2011

Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia

Por Alquezar, Carolina, Salado, Irene G., de la Encarnación, Ana, Pérez, Daniel I., Moreno, Fermín, Gil, Carmen, de Munain, Adolfo López, Martínez, Ana, Martín-Requero, Ángeles
Publicado no Mol Neurodegener (2016)

Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report

Por Rodríguez-Martínez, Ana B, de Munain, Adolfo López, Ferrer, Isidro, Zarranz, Juan J, Atarés, Begoña, Villagra, Nuria T, Arteagoitia, Jose M, Garrido, Joseba M, Juste, Ramón A
Publicado em 2012

Transcriptomic Profile Reveals Gender-Specific Molecular Mechanisms Driving Multiple Sclerosis Progression

Por Irizar, Haritz, Muñoz-Culla, Maider, Sepúlveda, Lucia, Sáenz-Cuesta, Matías, Prada, Álvaro, Castillo-Triviño, Tamara, Zamora-López, Gorka, de Munain, Adolfo López, Olascoaga, Javier, Otaegui, David
Publicado em 2014

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

Por Martí-Massó, Jose Felix, Bergareche, Alberto, Makarov, Vladimir, Ruiz-Martinez, Javier, Gorostidi, Ana, de Munain, Adolfo López, Poza, Juan Jose, Striano, Pasquale, Buxbaum, Joseph D., Paisán-Ruiz, Coro
Publicado em 2013

Differential Micro RNA Expression in PBMC from Multiple Sclerosis Patients

Por Otaegui, David, Baranzini, Sergio E., Armañanzas, Ruben, Calvo, Borja, Muñoz-Culla, Maider, Khankhanian, Puya, Inza, Iñaki, Lozano, Jose A., Castillo-Triviño, Tamara, Asensio, Ana, Olaskoaga, Javier, de Munain, Adolfo López
Publicado em 2009

α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

Por Gorostidi, Ana, Bergareche, Alberto, Ruiz-Martínez, Javier, Martí-Massó, José F., Cruz, María, Varghese, Shiji, Qureshi, Mohamed M., Alzahmi, Fatimah, Al-Hayani, Abdulmonem, de Munáin, Adolfo López, El-Agnaf, Omar M.A.
Publicado em 2012

Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A

Por Sáenz, Amets, Azpitarte, Margarita, Armañanzas, Rubén, Leturcq, France, Alzualde, Ainhoa, Inza, Iñaki, García-Bragado, Federico, De la Herran, Gaspar, Corcuera, Julián, Cabello, Ana, Navarro, Carmen, De la Torre, Carolina, Gallardo, Eduard, Illa, Isabel, de Munain, Adolfo López
Publicado em 2008

Oncogenicity of the developmental transcription factor Sox9

Por Matheu, Ander, Collado, Manuel, Wise, Clare, Manterola, Lorea, Cekaite, Lina, Tye, Angela J., Canamero, Marta, Bujanda, Luis, Schedl, Andreas, Cheah, Kathryn S.E., Skotheim, Rolf I., Lothe, Ragnhild A., de Munain, Adolfo López, Briscoe, James, Serrano, Manuel, Lovell-Badge, Robin
Publicado em 2012

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

Por Álvarez, Victoria, Sánchez-Ferrero, Elena, Beetz, Christian, Díaz, Marta, Alonso, Belén, Corao, Ana I, Gámez, Josep, Esteban, Jesús, Gonzalo, Juan F, Pascual-Pascual, Samuel I, de Munain, Adolfo López, Moris, Germán, Ribacoba, Renne, Márquez, Celedonio, Rosell, Jordi, Marín, Rosario, García-Barcina, Maria J, del Castillo, Emilia, Benito, Carmen, Coto, Eliecer
Publicado em 2010

Genetic and Epigenetic Modifications of Sox2 Contribute to the Invasive Phenotype of Malignant Gliomas

Por Alonso, Marta M., Diez-Valle, Ricardo, Manterola, Lorea, Rubio, Angel, Liu, Dan, Cortes-Santiago, Nahir, Urquiza, Leire, Jauregi, Patricia, de Munain, Adolfo Lopez, Sampron, Nicolás, Aramburu, Ander, Tejada-Solís, Sonia, Vicente, Carmen, Odero, María D., Bandrés, Eva, García-Foncillas, Jesús, Idoate, Miguel A., Lang, Frederick F., Fueyo, Juan, Gomez-Manzano, Candelaria
Publicado em 2011

Large-scale recent expansion of European patrilineages shown by population resequencing

Por Batini, Chiara, Hallast, Pille, Zadik, Daniel, Delser, Pierpaolo Maisano, Benazzo, Andrea, Ghirotto, Silvia, Arroyo-Pardo, Eduardo, Cavalleri, Gianpiero L., de Knijff, Peter, Dupuy, Berit Myhre, Eriksen, Heidi A., King, Turi E., de Munain, Adolfo López, López-Parra, Ana M., Loutradis, Aphrodite, Milasin, Jelena, Novelletto, Andrea, Pamjav, Horolma, Sajantila, Antti, Tolun, Aslıhan, Winney, Bruce, Jobling, Mark A.
Publicado no Nat Commun (2015)

Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer's disease

Por Lee, Suzee E., Tartaglia, Maria Carmela, Yener, Görsev, Genç, Sermin, Seeley, William W., Sanchez-Juan, Pascual, Moreno, Fermin, Mendez, Mario F., Klein, Eric, Rademakers, Rosa, de Munain, Adolfo López, Combarros, Onofre, Kramer, Joel H., Kenet, Robert O., Boxer, Adam L., Geschwind, Michael D., Gorno-Tempini, Maria-Luisa, Karydas, Anna M., Rabinovici, Gil D., Coppola, Giovanni, Geschwind, Daniel, Miller, Bruce L.
Publicado em 2013

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Por Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa
Publicado no Sci Rep (2017)

Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease

Por Kalia, Lorraine V., Lang, Anthony E., Hazrati, Lili-Naz, Fujioka, Shinsuke, Wszolek, Zbigniew K., Dickson, Dennis W., Ross, Owen A., Van Deerlin, Vivianna M., Trojanowski, John Q., Hurtig, Howard I., Alcalay, Roy N., Marder, Karen S., Clark, Lorraine N., Gaig, Carles, Tolosa, Eduardo, Ruiz-Martínez, Javier, Marti-Masso, Jose F., Ferrer, Isidre, de Munain, Adolfo López, Goldman, Samuel M., Schüle, Birgitt, Langston, J. William, Aasly, Jan O., Giordana, Maria T., Bonifati, Vincenzo, Puschmann, Andreas, Canesi, Margherita, Pezzoli, Gianni, De Paula, Andre Maues, Hasegawa, Kazuko, Duyckaerts, Charles, Brice, Alexis, Stoessl, A. Jon, Marras, Connie
Publicado no JAMA Neurol (2015)

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Por Freyermuth, Fernande, Rau, Frédérique, Kokunai, Yosuke, Linke, Thomas, Sellier, Chantal, Nakamori, Masayuki, Kino, Yoshihiro, Arandel, Ludovic, Jollet, Arnaud, Thibault, Christelle, Philipps, Muriel, Vicaire, Serge, Jost, Bernard, Udd, Bjarne, Day, John W., Duboc, Denis, Wahbi, Karim, Matsumura, Tsuyoshi, Fujimura, Harutoshi, Mochizuki, Hideki, Deryckere, François, Kimura, Takashi, Nukina, Nobuyuki, Ishiura, Shoichi, Lacroix, Vincent, Campan-Fournier, Amandine, Navratil, Vincent, Chautard, Emilie, Auboeuf, Didier, Horie, Minoru, Imoto, Keiji, Lee, Kuang-Yung, Swanson, Maurice S., de Munain, Adolfo Lopez, Inada, Shin, Itoh, Hideki, Nakazawa, Kazuo, Ashihara, Takashi, Wang, Eric, Zimmer, Thomas, Furling, Denis, Takahashi, Masanori P., Charlet-Berguerand, Nicolas
Publicado no Nat Commun (2016)

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Por Van Deerlin, Vivianna M., Sleiman, Patrick M. A., Martinez-Lage, Maria, Chen-Plotkin, Alice, Wang, Li-San, Graff-Radford, Neill R, Dickson, Dennis W., Rademakers, Rosa, Boeve, Bradley F., Grossman, Murray, Arnold, Steven E., Mann, David M.A., Pickering-Brown, Stuart M., Seelaar, Harro, Heutink, Peter, van Swieten, John C., Murrell, Jill R., Ghetti, Bernardino, Spina, Salvatore, Grafman, Jordan, Hodges, John, Spillantini, Maria Grazia, Gilman, Sid', Lieberman, Andrew P., Kaye, Jeffrey A., Woltjer, Randall L., Bigio, Eileen H, Mesulam, Marsel, al-Sarraj, Safa, Troakes, Claire, Rosenberg, Roger N., White, Charles L., Ferrer, Isidro, Lladó, Albert, Neumann, Manuela, Kretzschmar, Hans A., Hulette, Christine Marie, Welsh-Bohmer, Kathleen A., Miller, Bruce L, Alzualde, Ainhoa, de Munain, Adolfo Lopez, McKee, Ann C., Gearing, Marla, Levey, Allan I., Lah, James J., Hardy, John, Rohrer, Jonathan D., Lashley, Tammaryn, Mackenzie, Ian R.A., Feldman, Howard H., Hamilton, Ronald L., Dekosky, Steven T., van der Zee, Julie, Kumar-Singh, Samir, Van Broeckhoven, Christine, Mayeux, Richard, Vonsattel, Jean Paul G., Troncoso, Juan C., Kril, Jillian J, Kwok, John B.J., Halliday, Glenda M., Bird, Thomas D., Ince, Paul G., Shaw, Pamela J., Cairns, Nigel J., Morris, John C., McLean, Catriona Ann, DeCarli, Charles, Ellis, William G., Freeman, Stefanie H., Frosch, Matthew P., Growdon, John H., Perl, Daniel P., Sano, Mary, Bennett, David A., Schneider, Julie A., Beach, Thomas G., Reiman, Eric M., Woodruff, Bryan K., Cummings, Jeffrey, Vinters, Harry V., Miller, Carol A., Chui, Helena C., Alafuzoff, Irina, Hartikainen, Päivi, Seilhean, Danielle, Galasko, Douglas, Masliah, Eliezer, Cotman, Carl W., Tuñón, M. Teresa, Martínez, M. Cristina Caballero, Munoz, David G., Carroll, Steven L., Marson, Daniel, Riederer, Peter F., Bogdanovic, Nenad, Schellenberg, Gerard D., Hakonarson, Hakon, Trojanowski, John Q., Lee, Virginia M.-Y.
Publicado em 2010