Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Authors: Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen, Nancy L. Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M. Tankard, Joshua C. Bis, Rebecca Sims, Céline Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Manuel Menéndez-González, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García-González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C. Naj, Afina W. Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonça, Alfonso Arias Pastor, Almar A. L. Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L. DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M. Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge G. Nordestgaard, Brian W. Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B. Ferreira, Caterina Chillotti, Chandra A. Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodriguez-Rodriguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbæk, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K. Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sebastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Johannes Kornhuber, Jonathan L. Haines, Jonathan Vogelgsang, Juan A. Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A. Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, M. Arfan Ikram, M. Candida Deniz-Naranjo, Magda Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A. Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M. Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J. Herrmann, Martin Scherer, Martin Vyhnalek, Mary H. Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T. Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M. van Schoor, Nazib M. Seidu, Nerisa Banaj, Nicola J. Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Per Hoffmann, Peter A. Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N. Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A. L. Pijnenburg, EADB contributors, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez-Juan, Pau Pastor, Jordi Pérez-Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose María García-Alberca, María J. Bullido, Victoria Álvarez, Alberto Lleó, Luis M. Real, Pablo Mir, Miguel Medina, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Philippe Amouyel, Gerard D. Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M. van Duijn, Karen A. Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole A. Andreassen, Danielle Posthuma, Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee, Agustín Ruiz

Source: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/3baab8412752494a9ff0927d1cfb9b68

Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Authors: Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen, Nancy L. Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M. Tankard, Joshua C. Bis, Rebecca Sims, Céline Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Manuel Menéndez-González, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García-González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C. Naj, Afina W. Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonça, Alfonso Arias Pastor, Almar A. L. Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L. DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M. Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge G. Nordestgaard, Brian W. Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B. Ferreira, Caterina Chillotti, Chandra A. Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodriguez-Rodriguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbæk, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K. Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sebastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Johannes Kornhuber, Jonathan L. Haines, Jonathan Vogelgsang, Juan A. Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A. Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, M. Arfan Ikram, M. Candida Deniz-Naranjo, Magda Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A. Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M. Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J. Herrmann, Martin Scherer, Martin Vyhnalek, Mary H. Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T. Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M. van Schoor, Nazib M. Seidu, Nerisa Banaj, Nicola J. Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Patrizia Mecocci, Per Hoffmann, Peter A. Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N. Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A. L. Pijnenburg, EADB contributors, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez-Juan, Pau Pastor, Jordi Pérez-Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose María García-Alberca, María J. Bullido, Victoria Álvarez, Alberto Lleó, Luis M. Real, Pablo Mir, Miguel Medina, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Philippe Amouyel, Gerard D. Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M. van Duijn, Karen A. Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole A. Andreassen, Danielle Posthuma, Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee, Agustín Ruiz

Source: Nature Communications, Vol 14, Iss 1, Pp 1-2 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/65fa8e30b89144eca759dc077829b8ad

Defects of Nutrient Signaling and Autophagy in Neurodegeneration

Authors: Jon Ondaro, Haizea Hernandez-Eguiazu, Maddi Garciandia-Arcelus, Raúl Loera-Valencia, Laura Rodriguez-Gómez, Andrés Jiménez-Zúñiga, Julen Goikolea, Patricia Rodriguez-Rodriguez, Javier Ruiz-Martinez, Fermín Moreno, Adolfo Lopez de Munain, Ian James Holt, Francisco Javier Gil-Bea, Gorka Gereñu

Source: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Subject Terms: neurodegenerative diseases, autophagy, nutrient sensing pathways, mitochondrial metabolism, lipid metabolism, glucose metabolism, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.836196/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/d5a931fe69ce457aa2252150533d313b

Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

Authors: Youjin Wang, Ana Best, Roberto Fernández‐Torrón, Rotana Alsaggaf, Mikel Garcia‐Puga, Casey L. Dagnall, Belynda Hicks, Mone’t Thompson, Ander Matheu Fernandez, Miren Zulaica Ijurco, Mark H. Greene, Adolfo Lopez de Munain, Shahinaz M. Gadalla

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 126-131 (2020)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/ab1fd0fbd9f647a7918fddbaf4a84c8d

Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells

Authors: Neia Naldaiz-Gastesi, María Goicoechea, Sonia Alonso-Martín, Ana Aiastui, Macarena López-Mayorga, Paula García-Belda, Jaione Lacalle, Carlos San José, Marcos J. Araúzo-Bravo, Lidwine Trouilh, Véronique Anton-Leberre, Diego Herrero, Ander Matheu, Antonio Bernad, José Manuel García-Verdugo, Jaime J. Carvajal, Frédéric Relaix, Adolfo Lopez de Munain, Patricia García-Parra, Ander Izeta

Source: Stem Cell Reports, Vol 7, Iss 3, Pp 411-424 (2016)

Subject Terms: Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671116301527; https://doaj.org/toc/2213-6711

Access URL: https://doaj.org/article/5454c76d848e462d808b631ab0b25e16

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

Authors: Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W. Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S. Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P. Takahashi, Nicolas Charlet-Berguerand

Source: Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/72afc8d9128643c28fcf74d35cc00642

Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.

Authors: Juan M Fernandez-Costa, Beatriz Llamusi, Ariadna Bargiela, Miren Zulaica, M Carmen Alvarez-Abril, Manuel Perez-Alonso, Adolfo Lopez de Munain, Arturo Lopez-Castel, Ruben Artero

Source: PLoS ONE, Vol 11, Iss 2, p e0150501 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4769077?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/f57dc728cec047fba9b99431284d0df9

Mutation Resulting in Sortilin Deficiency and p75 Upregulation in a Family With Essential Tremor

Authors: Elena Sánchez, Alberto Bergareche, Catharine E. Krebs, Ana Gorostidi, Vladimir Makarov, Javier Ruiz-Martinez, Alejo Chorny, Adolfo Lopez de Munain, Jose Felix Marti-Masso, Coro Paisán-Ruiz

Source: ASN Neuro, Vol 7 (2015)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/1759-0914

Access URL: https://doaj.org/article/e3b5b5f6007f4b34a5afcd9f4014372a

Genetic and epigenetic modifications of Sox2 contribute to the invasive phenotype of malignant gliomas.

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

Source: PLoS ONE, Vol 6, Iss 11, p e26740 (2011)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3206066?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/303c3fa6307b43d0ba009b421646c9fd

Role of Stem Cells in Skeletal Muscle Development, Regeneration, Repair, Aging and Disease

Authors: Pura Munoz-Canoves, Jaime J. Carvajal, Adolfo Lopez de Munain, Ander Izeta

Subject Terms: RC321-571, QH301-705.5, Q1-390, ageing, satellite cell, pericytes, fibrosis, myogenesis, muscular dystrophies, rejuvenation, epigenetics, muscle wasting, sarcopenia, Neurosciences

File Description: image/jpeg

Relation: Frontiers Research Topics

Access URL: https://directory.doabooks.org/handle/20.500.12854/58607
http://www.frontiersin.org/books/Role_of_Stem_Cells_in_Skeletal_Muscle_Development_Regeneration_Repair_Aging_and_Disease/909
http://journal.frontiersin.org/researchtopic/3021/role-of-stem-cells-in-skeletal-muscle-development-regeneration-repair-aging-and-disease

Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity

Authors: Judit Núñez-Manchón, Júlia Capó, Alicia Martínez-Piñeiro, Eduard Juanola, Jovan Pesovic, Laura Mosqueira-Martín, Klaudia González-Imaz, Pau Maestre-Mora, Renato Odria, Estefania Cerro-Herreros, Neia Naldaiz-Gastesi, Adolfo López de Munain, Rubén Artero, Dusanka Savic-Pavicevic, Ainara Vallejo-Illarramendi, Kamel Mamchaoui, Anne Bigot, Vincent Mouly, Mònica Suelves, Gisela Nogales-Gadea

Source: iScience, Vol 27, Iss 12, Pp 111499- (2024)

Subject Terms: Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004224027263; https://doaj.org/toc/2589-0042

Access URL: https://doaj.org/article/dfc374e49d274f9e8fc55021794bba87

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy

Authors: Andrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel, Sonia Alonso-Martín, Eduard Gallardo, Roberto Fernández-Torrón, Mario Bonilla, Ana Lersundi, Aurelio Hernández-Laín, Cristina Domínguez-González, Juan Jesús Vílchez, Pablo Iruzubieta, Adolfo López de Munain, Amets Sáenz

Source: Cells, Vol 14, Iss 6, p 446 (2025)

Subject Terms: limb-girdle muscular dystrophy, LGMDR1, calpain 3, integrin β1, costamere, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/14/6/446; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/1f4625f897944989b6af4af368ca43cd

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

Authors: Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)

Subject Terms: LGMDR1, Calpain 3, Cell culture, Metabolism, Myoblast, Myotubes, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/c98a543474c243b18fb6ae233988a467

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Authors: Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol

Source: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)

Subject Terms: Algorithm, WES/WGS, HPOs, Variant prioritization, Interactome, Hereditary spastic paraplegia, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/2dfa1e8234864677aabd2a18c1c7242e

A Novel Class of FKBP12 Ligands Rescues Premature Aging Phenotypes Associated with Myotonic Dystrophy Type 1

Authors: Mikel García-Puga, Gorka Gerenu, Ariadna Bargiela, Jorge Espinosa-Espinosa, Laura Mosqueira-Martín, Maialen Sagartzazu-Aizpurua, Jesús M. Aizpurua, Ainara Vallejo-Illarramendi, Rubén Artero, Adolfo López de Munain, Ander Matheu

Source: Cells, Vol 13, Iss 23, p 1939 (2024)

Subject Terms: myotonic dystrophy, FKBP12/RyR interaction, oxidative stress, extended longevity, multisystem recovery, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/23/1939; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/1cc7a31eb0c24417ac30220d46bf4edd

CNS involvement in myotonic dystrophy type 1: does sex play a role?

Authors: Joana Garmendia, Garazi Labayru, Jone Aliri, Adolfo López de Munain, Andone Sistiaga

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: myotonic dystrophy type 1, DM1, sex, inheritance pattern, CTG, genomic imprinting, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1399898/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/369f27368b004b7f9334cf45ccd56e9a

White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study

Authors: Garazi Labayru, Borja Camino, Antonio Jimenez-Marin, Joana Garmendia, Jorge Villanua, Miren Zulaica, Jesus M. Cortes, Adolfo López de Munain, Andone Sistiaga

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/f7e568f5d4dd42a2a19db240a530d851

Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells

Authors: Miriam Bobadilla Muñoz, Josune Orbe, Gloria Abizanda, Florencio J. D. Machado, Amaia Vilas, Asier Ullate-Agote, Leire Extramiana, Arantxa Baraibar Churio, Xabier L. Aranguren, Gloria Cantero, Neira Sáinz Amillo, José Antonio Rodríguez, Luis Ramos García, Juan Pablo Romero Riojas, Ainara Vallejo-Illarramendi, Carmen Paradas, Adolfo López de Munain, José Antonio Páramo, Felipe Prósper, Ana Pérez-Ruiz

Source: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

Subject Terms: MMP-10, satellite cell, muscle repair, DNA damage, aging, senescence, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1128534/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/6f3b235d66ea48b0903667a7547e22f3

Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

Authors: Elena Cortés‐Vicente, Rodrigo Álvarez‐Velasco, Francesc Pla‐Junca, Ricard Rojas‐Garcia, Carmen Paradas, Teresa Sevilla, Carlos Casasnovas, María Teresa Gómez‐Caravaca, Julio Pardo, Alba Ramos‐Fransi, Ana Lara Pelayo‐Negro, Gerardo Gutiérrez‐Gutiérrez, Janina Turon‐Sans, Adolfo López de Munain, Antonio Guerrero‐Sola, Ivonne Jericó, María Asunción Martín, María Dolores Mendoza, Germán Morís, Beatriz Vélez‐Gómez, Tania Garcia‐Sobrino, Elba Pascual‐Goñi, David Reyes‐Leiva, Isabel Illa, Eduard Gallardo

Source: Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 122-131 (2022)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/2b39a018049e4bdbb38862338fe7dbf0

Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

Authors: Estefanía Cerro-Herreros, Irene González-Martínez, Nerea Moreno, Jorge Espinosa-Espinosa, Juan M. Fernández-Costa, Anna Colom-Rodrigo, Sarah J. Overby, David Seoane-Miraz, Javier Poyatos-García, Juan J. Vilchez, Adolfo López de Munain, Miguel A. Varela, Matthew J. Wood, Manuel Pérez-Alonso, Beatriz Llamusí, Rubén Artero

Source: Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 174-191 (2021)

Subject Terms: microRNAs, CTG repeat expansions, MBNL1 protein, antisense oligonucleotide, alternative splicing, myotonic dystrophy, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253121001852; https://doaj.org/toc/2162-2531

Access URL: https://doaj.org/article/fcb1590ef3cd430fb37c123264dbacdc