Casein kinase 1 inhibitor avoids TDP-43 pathology propagation in a patient-derived cellular model of amyotrophic lateral sclerosis
Cuevas, Eva P., Martinez-Gonzalez, Loreto, Gordillo, Clara, Tosat-Bitrián, Carlota, Pérez de la Lastra, Carmen, Sáenz, Amets, Gil, Carmen, Palomo, Valle, Martin-Requero, Ángeles, Martinez, Ana
Published in Neurobiology of disease (01.03.2024)
Published in Neurobiology of disease (01.03.2024)
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Journal Article
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
Lasa-Elgarresta, Jaione, Mosqueira-Martín, Laura, Naldaiz-Gastesi, Neia, Sáenz, Amets, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara
Published in International journal of molecular sciences (13.09.2019)
Published in International journal of molecular sciences (13.09.2019)
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Journal Article
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
Rico, Anabel, Valls, Andrea, Guembelzu, Garazi, Azpitarte, Margarita, Aiastui, Ana, Zufiria, Mónica, Jaka, Oihane, López de Munain, Adolfo, Sáenz, Amets
Published in Orphanet journal of rare diseases (10.10.2023)
Published in Orphanet journal of rare diseases (10.10.2023)
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Journal Article
Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related
Rico, Anabel, Guembelzu, Garazi, Palomo, Valle, Martínez, Ana, Aiastui, Ana, Casas-Fraile, Leire, Valls, Andrea, López de Munain, Adolfo, Sáenz, Amets
Published in International journal of molecular sciences (08.07.2021)
Published in International journal of molecular sciences (08.07.2021)
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Journal Article
The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy
Valls, Andrea, Gutiérrez‐Gutiérrez, Gerardo, Martínez, Agustín, Ruiz‐Roldán, Cristina, Camaño, Pilar, López de Munain, Adolfo, Sáenz, Amets
Published in Muscle & nerve (01.04.2024)
Published in Muscle & nerve (01.04.2024)
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Journal Article
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
Casas-Fraile, Leire, Cornelis, Frederique M, Costamagna, Domiziana, Rico, Anabel, Duelen, Robin, Sampaolesi, Maurilio M, López de Munain, Adolfo, Lories, Rik J, Sáenz, Amets
Published in Orphanet journal of rare diseases (24.05.2020)
Published in Orphanet journal of rare diseases (24.05.2020)
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Journal Article
Genotype-phenotype correlations in recessive titinopathies
Savarese, Marco, Vihola, Anna, Oates, Emily C, Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Díaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-García, Ricardo, Sáenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Välipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo López, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vílchez, Juan J, Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Journal Article
Costamere proteins and their involvement in myopathic processes
Jaka, Oihane, Casas-Fraile, Leire, López de Munain, Adolfo, Sáenz, Amets
Published in Expert reviews in molecular medicine (01.01.2015)
Published in Expert reviews in molecular medicine (01.01.2015)
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Journal Article
Senescence plays a role in myotonic dystrophy type 1
García-Puga, Mikel, Saenz-Antoñanzas, Ander, Gerenu, Gorka, Arrieta-Legorburu, Alex, Fernández-Torrón, Roberto, Zulaica, Miren, Saenz, Amets, Elizazu, Joseba, Nogales-Gadea, Gisela, Gadalla, Shahinaz M., Araúzo-Bravo, Marcos J., López de Munain, Adolfo, Matheu, Ander
Published in JCI insight (10.10.2022)
Published in JCI insight (10.10.2022)
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Journal Article
Copy number variation analysis increases the diagnostic yield in muscle diseases
Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, de Munain, Adolfo Lopez, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter
Published in Neurology. Genetics (01.12.2017)
Published in Neurology. Genetics (01.12.2017)
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Journal Article
Entire CAPN3 gene deletion in a patient with limb‐girdle muscular dystrophy type 2A
Jaka, Oihane, Azpitarte, Margarita, Paisán‐Ruiz, Coro, Zulaika, Miren, Casas‐Fraile, Leire, Sanz, Raúl, Trevisiol, Nathalie, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, López de Munain, Adolfo, Sáenz, Amets
Published in Muscle & nerve (01.09.2014)
Published in Muscle & nerve (01.09.2014)
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Journal Article
Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings
López de Munain, Adolfo, Alzualde, Ainhoa, Gorostidi, Ana, Otaegui, David, Ruiz-Martínez, Javier, Indakoetxea, Begoña, Ferrer, Isidro, Pérez-Tur, Jordi, Sáenz, Amets, Bergareche, Alberto, Barandiarán, Miriam, Poza, Juan José, Zabalza, Ramón, Ruiz, Irune, Urtasun, Miguel, Fernández-Manchola, Iñaki, Olasagasti, Bixen, Espinal, Juan Bautista, Olaskoaga, Javier, Ruibal, Marta, Moreno, Fermin, Carrera, Nieves, Massó, José Félix Martí
Published in Biological psychiatry (1969) (15.05.2008)
Published in Biological psychiatry (1969) (15.05.2008)
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Journal Article
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
Paisán-Ruı́z, Coro, Jain, Shushant, Evans, E.Whitney, Gilks, William P., Simón, Javier, van der Brug, Marcel, de Munain, Adolfo López, Aparicio, Silvia, Gil, Angel Martı́nez, Khan, Naheed, Johnson, Janel, Martinez, Javier Ruiz, Nicholl, David, Carrera, Itxaso Marti, Peňa, Amets Saénz, de Silva, Rohan, Lees, Andrew, Martı́-Massó, José Félix, Pérez-Tur, Jordi, Wood, Nick W., Singleton, Andrew B.
Published in Neuron (Cambridge, Mass.) (18.11.2004)
Published in Neuron (Cambridge, Mass.) (18.11.2004)
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Journal Article
Gene expression profiling in limb-girdle muscular dystrophy 2A
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, López de Munain, Adolfo
Published in PloS one (18.11.2008)
Published in PloS one (18.11.2008)
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Journal Article
Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques
Simón-Sánchez, Javier, Martí-Massó, José-Félix, Sánchez-Mut, José Vicente, Paisán-Ruiz, Coro, Martínez-Gil, Angel, Ruiz-Martínez, Javier, Sáenz, Amets, Singleton, Andrew B., López de Munain, Adolfo, Pérez-Tur, Jordi
Published in Movement disorders (01.11.2006)
Published in Movement disorders (01.11.2006)
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Journal Article
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
Morante-Redolat, José M., Gorostidi-Pagola, Ana, Piquer-Sirerol, Salomé, Sáenz, Amets, Poza, Juan J., Galán, Juan, Gesk, Stefan, Sarafidou, Theologia, Mautner, Victor-F., Binelli, Simona, Staub, Eike, Hinzmann, Bernd, French, Lisa, Prud'homme, Jean-F., Passarelli, Daniela, Scannapieco, Paolo, Tassinari, Carlo A., Avanzini, Giuliano, Martí-Massó, José F., Kluwe, Lan, Deloukas, Panagiotis, Moschonas, Nicholas K., Michelucci, Roberto, Siebert, Reiner, Nobile, Carlo, Pérez-Tur, Jordi, López de Munain, Adolfo
Published in Human molecular genetics (01.05.2002)
Published in Human molecular genetics (01.05.2002)
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Journal Article
Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
Sáenz, Amets, Ono, Yasuko, Sorimachi, Hiroyuki, Goicoechea, Maria, Leturcq, France, Blázquez, Lorea, García-Bragado, Federico, Marina, Alberto, Poza, Juan José, Azpitarte, Margarita, Doi, Naoko, Urtasun, Miguel, Kaplan, Jean-Claude, De Munain, Adolfo López
Published in Muscle & nerve (01.11.2011)
Published in Muscle & nerve (01.11.2011)
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Journal Article