A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy by Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol

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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases by Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol

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Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy by Pablo Ranea‐Robles, Nathalie Launay, Montserrat Ruiz, Noel Ylagan Calingasan, Magali Dumont, Alba Naudí, Manuel Portero‐Otín, Reinald Pamplona, Isidre Ferrer, M Flint Beal, Stéphane Fourcade, Aurora Pujol

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The Value of Mouse Models of Rare Diseases: A Spanish Experience by Silvia Murillo-Cuesta, Silvia Murillo-Cuesta, Silvia Murillo-Cuesta, Rafael Artuch, Rafael Artuch, Fernando Asensio, Pedro de la Villa, Mara Dierssen, Mara Dierssen, Mara Dierssen, Jose Antonio Enríquez, Jose Antonio Enríquez, Cristina Fillat, Cristina Fillat, Stéphane Fourcade, Stéphane Fourcade, Borja Ibáñez, Borja Ibáñez, Borja Ibáñez, Lluis Montoliu, Lluis Montoliu, Eduardo Oliver, Eduardo Oliver, Aurora Pujol, Aurora Pujol, Aurora Pujol, Eduardo Salido, Eduardo Salido, Mario Vallejo, Mario Vallejo, Isabel Varela-Nieto, Isabel Varela-Nieto, Isabel Varela-Nieto

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Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice by Olga C. Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Marta Soler, Cecilia D. Velasco, Pablo Martínez-San Segundo, Paolo Petazzi, Mauricio A. Sáez, Raúl Delgado-Morales, Stephane Fourcade, Aurora Pujol, Dori Huertas, Artur Llobet, Sonia Guil, Manel Esteller

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Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity by Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol

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Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophyResearch in context by Isabelle Weinhofer, Paulus Rommer, Andreas Gleiss, Markus Ponleitner, Bettina Zierfuss, Petra Waidhofer-Söllner, Stéphane Fourcade, Katharina Grabmeier-Pfistershammer, Marie-Christine Reinert, Jens Göpfert, Anne Heine, Hemmo A.F. Yska, Carlos Casasnovas, Verónica Cantarín, Caroline G. Bergner, Eric Mallack, Sonja Forss-Petter, Patrick Aubourg, Annette Bley, Marc Engelen, Florian Eichler, Troy C. Lund, Aurora Pujol, Wolfgang Köhler, Jörn-Sven Kühl, Johannes Berger

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

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