Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group

Authors: Cavazza, Alessia ^{1, 2, 42, ∗}, Molina-Estévez, Francisco J. ^{3, 4, 5, 42}, Reyes, Álvaro Plaza ⁶, Ronco, Victor ³, Naseem, Asma ¹, Malenšek, Špela ^{7, 8}, Pečan, Peter ^{7, 8}, Santini, Annalisa ^{9, 10}, Heredia, Paula ^{3, 14}, Aguilar-González, Araceli ^{3, 5, 13}, Boulaiz, Houria ^{5, 14}, Ni, Qianqian ¹⁵, Cortijo-Gutierrez, Marina ³, Pavlovic, Kristina ³, Herrera, Inmaculada ^{16, 17}, de la Cerda, Berta ⁶, Garcia-Tenorio, Emilio M. ¹⁸, Richard, Eva ¹⁸, Granados-Principal, Sergio ^{3, 5, 19}, López-Márquez, Arístides ^{20, 21, 22}, Köber, Mariana ^{23, 24}, Stojanovic, Marijana ²⁵, Vidaković, Melita ²⁵, Santos-Garcia, Irene ²⁶, Blázquez, Lorea ^{26, 27, 28}, Haughton, Emily ¹¹, Yan, Dongnan ^{11, 12}, Sánchez-Martín, Rosario María ^{3, 5, 13}, Mazini, Loubna ⁴¹, Aseguinolaza, Gloria Gonzalez ^{29, 30}, Miccio, Annarita ^{9, 10}, Rio, Paula ^{21, 31, 32}, Desviat, Lourdes R. ¹⁸, Gonçalves, Manuel A.F.V. ³³, Peng, Ling ³⁴, Jiménez-Mallebrera, Cecilia ^{20, 21}, Molina, Francisco Martin ^{3, 5, 35}, Gupta, Dhanu ^{11, 36}, Lainšček, Duško ^{7, 37, 38}, Luo, Yonglun ^{39, 40, ∗∗}, Benabdellah, Karim ^{3, ∗∗∗}

Source: In Molecular Therapy - Nucleic Acids 11 March 2025 36(1)

Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides

Authors: Goyenvalle, Aurélie, Jimenez-Mallebrera, Cecilia, van Roon, Willeke, Sewing, Sabine, Krieg, Arthur M., Arechavala-Gomeza, Virginia, Andersson, Patrik

Source: Nucleic acid therapeutics. 33(1):1-16

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176167198.0x000001&indx=1&recIds=ETOCvdc_100176167198.0x000001

A Convolutional Neural Network for the Automatic Diagnosis of Collagen VI related Muscular Dystrophies

Authors: Bazaga, Adrián, Roldán, Mònica, Badosa, Carmen, Jiménez-Mallebrera, Cecilia, Porta, Josep M.

Subject Terms: Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, Electrical Engineering and Systems Science - Image and Video Processing, Statistics - Machine Learning

Access URL: http://arxiv.org/abs/1901.11074

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Authors: Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, López de Heredia, Miguel, Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pía, Artuch, Rafael, Fillat, Cristina, Pérez‐Jurado, Luis A., Montoliu, Lluis, Carracedo, Ángel, Millán, José M., Webb, Susan M., Palau, Francesc, Aguado, Carmen, Aguado, Cristina, Aguilera, Paula, Albiñana, Virginia, Alías, Laura, Almoguera, Berta, Alonso, Javier, Alonso‐Ferreira, Verónica, Alvarez‐Mora, María Isabel, Antiñolo, Guillermo, Arbones, María L., Arenas, Joaquín, Arjona, Emi, Armangue, Thais, Armstrong, Judith, Arnedo, María, Masó, Anna Aulinas, Avila‐Fernandez, Almudena, Ayuso, Carmen, Badell, Isabel, Badenas, Celia, Baeza, María L., Baiget, Montserrat, Balcells, Susanna, Ballesta‐Martínez, María Juliana, Barahona, María‐José, Barros, Francisco, Bartoccioni, Paola Chiara, Pilar Bayona‐Bafaluy, M., Benito Sanz, Sara, Bernabéu, Carmelo, Bernal, Sara, Blanco‐Kelly, Fiona, Blázquez, Alberto, Bodoy, Susanna, Bogliolo, Massimo, Borralleras, Cristina, Borrego, Salud, Botella, Luisa M., Bou de Pieri, Francesc, Bovolenta, Paola, Bravo‐Gil, Nereida, Brea, Alejandro, Bueno‐Lozano, Gloria, Bustamante, Ana, Caballero, Teresa, Camacho‐Macorra, Carlos, Cámara, Yolanda, Camats‐Tarruella, Núria, Campos Barros, Ángel, Campuzano, Victoria, Cantarero, Lara, Cantó, Judith, Caparrós‐Martín, JoséAntonio, Cardellach, Francesc, Carmona, Rosario, Carrera, Cristina, Carretero, Marta, Casado, Mercedes, Casado, JoséAntonio, Casasnovas, Carlos, Cascón, Alberto, Casino, Patricia, Castaño, Luis, Castilla‐Vallmanya, Laura, Catala, Albert, Luisa Cayuela, María, Cediel, Rafael, Cervera, Javier, Codina‐Solà, Marta, Contreras, Julio, Cormand, Bru, Corominas, Roser, Corral, Javier, Cortés‐Rodríguez, Ana, Corton, Marta, Costa‐Roger, Mar, Cozar, Mónica, Crespo, Iris, Crispi, Fátima, Cruz, Raquel, Cuezva, JoséM., Cuscó, Ivon, Dalmau, Josep, Cima, Sergio, Luna, Susana, Luna, NoemíDe, Oyarzabal Sanz, Alfonso, del Campo, Miguel, del Castillo, Ignacio, Del Pino Molina, Lucía, Del Pozo, Ángela, del Río, Marcela, Delmiro, Aitor, Desviat, Lourdes R., Dierssen, Mara, Domínguez‐González, Cristina, Domínguez‐Ruiz, María, Dopazo, Joaquín, Errasti, Ekaitz, Escámez, María José, Cristina Estañ, Maria, Esteban, Jesús, Estévez, Raúl, Ezquieta, Begoña, Fernández, Luis, Fernández, Almudena, Fernández‐Cancio, Mónica, Fernàndez‐Castillo, Noèlia, Fernández‐San Jose, Patricia, Fons, Carmen, Fort, Joana, Fourcade, Stéphane, Fraga, Mario F., Gallardo, Eduard, García, Marta, García‐Arumí, Elena, García‐Bravo, María, García‐Cazorla, Angels, García‐Consuegra, Inés, Garcia‐Garcia, Francesc Josep, García‐García, Gema, García‐Giménez, JoséLuis, Garcia‐Gimeno, María Adelaida, García‐Miñaur, Sixto, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrabou, Gloria, Garrido, Gema, Garrido‐Pérez, Nuria, Gaztambide, Sonia, Gil‐Campos, Mercedes, Giroud‐Gerbetant, Judith, Glover, Guillermo, Gómez‐Puertas, Paulino, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐del Pozo, María, González‐Quereda, Lidia, González‐Quintana, Adrián, Gort, Laura, Gougeard, Nadine, Gratacos, Eduard, María Grau, Josep, Grinberg, Daniel, Güenechea, Guillermo, Guerrero, Rosa, Guillén‐Navarro, Encarna, Guitart‐Mampel, Mariona, Gutiérrez‐Arumí, Armand, Heath, Karen, Heredia, Miguel, Hernández‐Chico, Concepción, Hoenicka, Janet, Homs, Aïda, Andrés Jimenez‐Estrada, Juan, Jimenez‐Mallebrera, Cecilia, Jou, Cristina, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, Larcher, Fernando, Lasa, Adriana, Lassaletta, Luis, Latorre‐Pellicer, Ana, Linares, Daniel, Llacer, JoséLuis, Llames, Sara, Lopez‐Gallardo, Ester, López‐Laso, Eduardo, López‐Lera, Alberto, Lopez‐Lopez, Daniel, López‐Sánchez, Marcos, López Granados, Eduardo, Lorda‐Sanchez, Isabel, Luisa Lozano, María, Madrigal, Irene, Malvehy, Josep, Manguán García, Cristina, Mansilla, Elena, Marco‐Marín, Clara, Marfany, Gemma, Marina, Alberto, Martí, Ramón, Martí, Salvador, Martin, Yolanda, Martín, Miguel A., Martín‐Hernandez., Elena, Martin‐Merida, Inmaculada, Martínez, Rosa, Martínez‐Azorín, Francisco, Martinez‐Delgado, Beatriz, Martínez‐Gil, Núria, Martínez‐Glez, Víctor M., Martínez‐Momblán, M.A., Carmen Martínez‐Romero, María, Martínez Fernández, Pilar, Martínez Santamaría, Lucía, Martorell, Loreto, Meade, Patricia, Meana, Álvaro, Ángel Medina, Miguel, Medrano, Andrés, Méndez‐Vidal, Cristina, Millán, JoséM., Minguez, Pablo, Minguillón, Jordi, Mirra, Serena, Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoya, Julio, Morán, María, Moren, Constanza, Moreno, Mireia, Moreno, JoséCarlos, Moreno‐Galdó, Antonio, Ángel Moreno‐Pelayo, Miguel, A Mori, María, Morin, Matías, Mulero, Victoriano, Muñoz‐Pujol, Gerard, Murillas, Rodolfo, Murillo‐Cuesta, Silvia, Nascimento, Andrés, Navarro, Susana, Navas, Plácido, Nevado, Julián, Nicolas, Adrià, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Páez, David, Palacín, Manuel, Gabriela Palacios‐Verdú, M., Palencia‐Campos, Adrián, Pallardó, Federico V., Palomares, María, Peña‐Chilet, María, Pérez, Belén, Perez‐Florido, Javier, Pérez‐García, Débora, Perez‐Jimenez, Eva, Perkins, James R., Perona, Rosario, Pie, Juan, Pinós, Tomàs, Pinto, Sheila, Potrony, Miriam, Puig, Susana, Antón Puig‐Butille, Joan, Puisac, Beatriz, Pujol, Roser, Pujol, Aurora, Quintana, Óscar, Rabionet, Raquel, JoséRamírez de Haro, María, Ramos, Feliciano J., Ranea, Juan A.G., Reina‐Castillón, Judith, Resmini, Eugenia, Ribes, Antonia, Rica, Itxaso, Richard, Eva, Riera, Pau, Río, Paula, Riveiro‐Alvarez, Rosa, Rivera, José, Rivera‐Barahona, Ana, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐de la Rosa, Lourdes, Rodríguez‐Palmero, Agustí, Rodriguez‐Pombo, Pilar, Rodriguez‐Revenga, Laia, Rodríguez‐Santiago, Benjamín, Rodríguez‐Sureda, Víctor, Rodríguez de Alba, Marta, Rodríguez de Cordoba, Santiago, Romá‐Mateo, Carlos, Rubio, Vicente, Ruiz, Ángela, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Luis Ruiz‐Perez, Victor, Ruiz‐Pesini, Eduardo, Ruiz‐Ponte, Clara, Rullo, Josep, Sabater, Lidia, Salazar, Juliana, Salido, Eduardo, Sanchez‐Jimeno, Carolina, María Sánchez Cuesta, Ana, JoséSánchez Soler, María, Santacatterina, Fulvio, Santamarina, Marta, Santos, Alicia, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Sanz, Pascual, Sastre, Leandro, Schlüter, Agatha, Segovia, JoséCarlos, Segura‐Puimedon, María, Seoane, Pedro, Serra‐Juhe, Clara, Serrano, Mercedes, Serratosa, JoséM., Sevilla, Teresa, Surrallés, Jordi, Tahsin‐Swafiri, Saoud, Tell‐Martí, Gemma, Antonio Tenorio‐Castaño, Jair, Tizzano, Eduardo, Tobias, Ester, Tort, Frederic, Trujillano, Laura, JoséTrujillo‐Tiebas, María, Ugalde, Cristina, Ugarteburu, Olatz, Urreizti, Roser, Urrutia, Inés, Valencia, María, Vallcorba, Patricia, Vallespín, Elena, Varela‐Nieto, Isabel, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J., Villa, Olaya, Villamar, Manuela, Zubeldia, JoséManuel, Zurita, Olga

Source: Clinical genetics. 101(5-6):481-493

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149766154.0x000001&indx=1&recIds=ETOCvdc_100149766154.0x000001

Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen

Authors: Carrera-García, Laura, Muchart, Jordi, Lazaro, Juan José, Expósito-Escudero, Jessica, Cuadras, Daniel, Medina, Julita, Bosch de Basea, Magda, Colomer, Jaume, Jimenez-Mallebrera, Cecilia, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés

Source: In European Journal of Paediatric Neurology March 2021 31:92-101

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

Authors: Natera-de Benito, Daniel, Ortez, Carlos, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Codina, Anna, Carrera-García, Laura, Expósito-Escudero, Jessica, Cesar, Sergi, Martorell, Loreto, Gallano, Pia, Gonzalez-Quereda, Lidia, Cuadras, Daniel, Colomer, Jaume, Yubero, Delia, Palau, Francesc, Nascimento, Andres

Source: In Pediatric Neurology February 2021 115:50-65

An international classification of inherited metabolic disorders (ICIMD)

Authors: Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Abdenur, Jose, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthias, Bertini, Enrico Silvio, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, Chinnery, Patrick F., Christodoulou, John, Cornejo, Veronica, Darin, Niklas, Derks, Terry, Diodato, Daria, Dionisi‐Vici, Carlo, Duley, John A., Fukao, † Toshi, García‐Cazorla, Ángeles, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez‐Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thomas, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils‐Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, McFarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis‐Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, Salomons, Gajja S., Saudubray, Jean‐Marie, Scarpa, Maurizio, Schara‐Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, Taylor, Robert W., Thiele, Ines, Thorburn, David, Hove, Johan, der Ploeg, Ans T., Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

Source: Journal of inherited metabolic disease. 44(1):164-177

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123874159.0x000001&indx=1&recIds=ETOCvdc_100123874159.0x000001

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

Authors: Bobadilla-Quesada, Edna Julieth, Natera-de Benito, Daniel, Carrera-García, Laura, Ortez, Carlos, Exposito-Escudero, Jessica, Jimenez-Mallebrera, Cecilia, Jou, Cristina, Codina, Anna, Corbera, Joan, Moya, Obdulia, Saez, Veronica, Gonzalez-Quereda, Lidia, Gallano, Pia, Colomer, Jaume, Cuadras, Daniel, Medina, Julita, Yoldi, María Eugenia, Nascimento, Andrés

Source: In Neuromuscular Disorders September 2020 30(9):719-726

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

Authors: Brisset, Marion, Metay, Corinne, Carlier, Robert-Yves, Badosa, Carmen, Marques, Caterina, Schalkwijk, Joost, vanVlijmen-Willems, Ivonne, Jimenez-Mallebrera, Cecilia, Keren, Boris, Jobic, Valérie, Laforêt, Pascal, Malfatti, Edoardo

Source: NEUROMUSCULAR DISORDERS. 30(10):833-838

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121472859.0x000001&indx=1&recIds=ETOCvdc_100121472859.0x000001

Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization

Authors: Natera‐de Benito, Daniel, Muchart, Jordi, Itzep, Debora, Ortez, Carlos, González‐Quereda, Lidia, Gallano, Pía, Ramirez, Alia, Aparicio, Javier, Domínguez‐Carral, Jana, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Pardo Cardozo, Nathalia, Cuadras, Daniel, Codina, Anna, Jou, Cristina, Jimenez‐Mallebrera, Cecilia, Palau, Francesc, Colomer, Jaume, Arzimanoglou, Alexis, Nascimento, Andrés, San Antonio‐Arce, Victoria

Source: Epilepsia. 61(5):971-983

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107114077.0x000001&indx=1&recIds=ETOCvdc_100107114077.0x000001

TRAPPC11 functions in autophagy by recruiting ATG2B‐WIPI4/WDR45 to preautophagosomal membranes

Authors: Stanga, Daniela, Zhao, Qingchuan, Milev, Miroslav P., Saint‐Dic, Djenann, Jimenez‐Mallebrera, Cecilia, Sacher, Michael

Source: Traffic. 20(5):325-345

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090582186.0x000001&indx=1&recIds=ETOCvdc_100090582186.0x000001

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Authors: Carrera‐García, Laura, Natera‐de Benito, Daniel, Dieterich, Klaus, Banda, Marta G. G., Felter, Adrien, Inarejos, Emili, Codina, Anna, Jou, Cristina, Roldan, Monica, Palau, Francesc, Hoenicka, Janet, Pijuan, Jordi, Ortez, Carlos, Expósito‐Escudero, Jessica, Durand, Chantal, Nugues, Frédérique, Jimenez‐Mallebrera, Cecilia, Colomer, Jaume, Carlier, Robert Y., Lochmüller, Hanns, Quijano‐Roy, Susana, Nascimento, Andres

Source: American journal of medical genetics.Part A. 179(6):915-926

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087164064.0x000001&indx=1&recIds=ETOCvdc_100087164064.0x000001

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Authors: Milev, Miroslav, Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Benito, Daniel, Barrios, Desiré, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia

Source: Scientific reports. 9(1):1-15

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190816522.0x000001&indx=1&recIds=ETOCvdc_100190816522.0x000001

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Authors: Domínguez-González, Cristina, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero, Candela, Méndez-Ferrer, Bosco, Martí, Ramon, García Arumi, Elena, Badosa, María, Esteban, Jesús, Jimenez-Mallebrera, Cecilia, Encinar, Alberto, Arenas, Joaquín, Hirano, Michio, Martin, Miguel, Paradas, Carmen

Source: Orphanet journal of rare diseases. 14(1):1-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187429981.0x000001&indx=1&recIds=ETOCvdc_100187429981.0x000001

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

Authors: Domínguez‐González, Cristina, Madruga‐Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre‐Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín‐Hernández, Elena, Morealejo‐Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, Álvarez del Vayo, Concepcion, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres‐Torronteras, Javier, Jimenez‐Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio

Source: Annals of neurology. 86(2):293-303

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100086948897.0x000001&indx=1&recIds=ETOCvdc_100086948897.0x000001

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

Authors: Llano-Diez, Monica, Ortez, Carlos Ignacio, Gay, Judit Armas, Álvarez-Cabado, Lidia, Jou, Cristina, Medina, Julita, Nascimento, Andres, Jimenez-Mallebrera, Cecilia ^*

Source: In Neuromuscular Disorders January 2017 27(1):15-23

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Authors: Yubero, Delia, Montero, Raquel, Martín, Miguel A., Montoya, Julio, Ribes, Antonia, Grazina, Manuela, Trevisson, Eva, Rodriguez-Aguilera, Juan Carlos, Hargreaves, Iain P., Salviati, Leonardo, Navas, Plácido, Artuch, Rafael, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Pérez-Dueñas, Belén, Ortez, Carlos, Ramos, Federico, Colomer, Jaume, O’Callaghan, Mar, Pineda, Mercè, García-Cazorla, Angels, Espinós, Carmina, Ruiz, Angels, Macaya, Alfons, Marcé-Grau, Anna, Garcia-Villoria, Judit, Arias, Angela, Emperador, Sonia, Ruiz-Pesini, Eduardo, Lopez-Gallardo, Ester, Neergheen, Viruna, Simões, Marta, Diogo, Luisa, Blázquez, Alberto, González-Quintana, Adrián, Delmiro, Aitor, Domínguez-González, Cristina, Arenas, Joaquín, García-Silva, Mª Teresa, Martín, Elena, Quijada, Pilar, Hernández-Laín, Aurelio, Morán, María, Rivas Infante, Eloy, Ávila Polo, Rainiero, Paradas Lópe, Carmen, Bautista Lorite, Juan, Martínez Fernández, Eva M., Cortés, Ana B., Sánchez-Cuesta, Ana, Cascajo, Maria V., Alcázar, María, Brea-Calvo, Gloria

Source: In Mitochondrion September 2016 30:51-58

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

Authors: De Paepe, Boel, Martin, Jean-Jacques, Herbelet, Sandrine, Jimenez-Mallebrera, Cecilia, Iglesias, Estibaliz, Jou, Cristina, Weis, Joachim, De Bleecker, Jan L

Source: In Laboratory Investigation August 2016 96(8):872-884

Mutation loads in different tissues from six pathogenic mtDNA point mutations

Authors: O'Callaghan, María M., Emperador, Sonia, Pineda, Mercè, López-Gallardo, Ester, Montero, Raquel, Yubero, Delia, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andrés, Ferrer, Isidre, García-Cazorla, Angels, Ruiz-Pesini, Eduardo, Montoya, Julio, Artuch, Rafael

Source: In Mitochondrion May 2015 22:17-22

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Authors: Fernández-Marmiesse, Ana, Carrascosa-Romero, M. Carmen, Alfaro Ponce, Blanca, Nascimento, Andres, Ortez, Carlos, Romero, Norma, Palacios, Lourdes, Jimenez-Mallebrera, Cecilia, Jou, Cristina, Gouveia, Sofía, Couce, María L.

Source: NEUROMUSCULAR DISORDERS. 27(2):188-192

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100042050109.0x000001&indx=1&recIds=ETOCvdc_100042050109.0x000001