Browsing by Author Ruiz, Montserrat
Showing results 16 to 27 of 27
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| Issue Date | Title | Author(s) |
|---|---|---|
| 5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
| Dec-2017 | Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance | Fourcade, Stéphane; Morató, Laia; Parameswaran, Janani; Ruiz, Montserrat; Ruiz-Cortés, Tatiana; Jove, Mariona; Naudi, Alba; Martínez Redondo, Paloma; Dierssen, Mara; Ferrer, Isidro (Ferrer Abizanda); Villarroya i Gombau, Francesc; Pamplona, Reinald; Vaquero García, Alejandro; Portero Otin, Manuel; Pujol Onofre, Aurora |
| 1-Jan-2019 | Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy | Pant, Devesh C.; Dorboz, Imen; Schlüter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera Albesa, Sergio; Yoldi, Maria Eugenia; Casasnovas Pons, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto e Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamrez; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug‐Tanguy, Odile; Pujol Onofre, Aurora |
| 13-Apr-2021 | Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain | Troya, Jesús; Bastard, Paul; Planas Serra, Laura; Ryan, Pablo; Ruiz, Montserrat; Carranza, María de; Torres, Juan; Martínez, Amalia; Abel, Laurent; Casanova, Jean-Laurent; Pujol Onofre, Aurora |
| Oct-2011 | Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy | Galino, Jorge; Ruiz, Montserrat; Fourcade, Stéphane; Schlüter, Agatha; López Erauskin, Jone; Guilera, Cristina; Jove, Mariona; Naudi, Alba; García Arumí, Elena; Andreu, Antoni L.; Starkov, Anatoly A.; Pamplona, Reinald; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Pujol Onofre, Aurora |
| 26-Dec-2017 | Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease | Ruiz, Montserrat; Bégou, Mélina; Launay, Nathalie; Ranea Robles, Pablo; Bianchi, Patrizia; López Erauskin, Jone; Morató, Laia; Guilera, Cristina; Petit, Bérengère; Vaurs‐Barriere, Catherine; Guéret‐Gonthier, Céline; Bonnet‐Dupeyron, Marie‐Noëlle; Fourcade, Stéphane; Auwerx, Johan; Boespflug‐Tanguy, Odile; Pujol Onofre, Aurora |
| 22-Apr-2020 | Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study | Fernández Eulate, Gorka; Fernández Torrón, Roberto; Guisasola, Amaia; Iglesias Gaspar, Maria Teresa; Diaz Manera, Jordi; Maneiro, Miren; Zulaica, Miren; Olasagasti, Vicente; Formica, Alejandro Francisco; Espinal, Juan Bautista; Ruiz, Montserrat; Schlüter, Agatha; Pujol Onofre, Aurora; Poza, Juan José; López de Munain, Adolfo |
| 17-Jul-2023 | RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia | Launay, Nathalie; Ruiz, Montserrat; Planas Serra, Laura; Verdura, Edgard; Rodríguez Palmero, Agustí; Schlüter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean Laurent; Boespflug Tanguy, Odile; Vazquez Cancela, Maria; González Gutiérrez-Solana, Luis; Casasnovas, Carlos; Area Gomez, Estela; Pujol, Aurora |
| 23-May-2023 | Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity | Planas Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Bénédicte; Jou, Cristina; Juliá Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Torre, Carolina de la; Gelot, Antoinette; Marsal, Maria; Loza Álvarez, Pablo; García Cazorla, Àngels; Fatemi, Ali; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Area Gómez, Estela; Pujol Onofre, Aurora |
| Feb-2017 | Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy | Launay, Nathalie; Ruiz, Montserrat; Grau, Laia; Ortega González, Fco. Javier; Ilieva, Ekaterina V.; Martínez, Juan José; Galea, Elena; Ferrer, Isidro (Ferrer Abizanda); Knecht, Erwin; Pujol Onofre, Aurora; Fourcade, Stéphane |
| 1-Feb-2020 | The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy | Coppa, Andrea; Guha, Sanjib; Fourcade, Stéphane; Parameswaran, Janani; Ruiz, Montserrat; Moser, Ann B.; Schlüter, Agatha; Murphy, Michael P.; Lizcano, José Miguel; Miranda Vizuete, Antonio; Dalfó Capella, Esther; Pujol Onofre, Aurora |
| 12-Jul-2016 | Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families | Soehn, Anne S.; Rattay, Tim W.; Beck-Wödl, Stefanie; Schäferhoff, Karin; Monk, Dave Nicholas; Döbler-Neumann, Marion; Hörtnagel, Konstanze; Schlüter, Agatha; Ruiz, Montserrat; Pujol Onofre, Aurora; Züchner, Stephan; Riess, Olaf; Schüle, Rebecca; Bauer, Peter; Schöls, Ludger |