1. A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. Issue 1 (18th December 2019) Authors: Verdura, Edgard; Schlüter, Agatha; Fernández‐Eulate, Gorka; Ramos‐Martín, Raquel; Zulaica, Miren; Planas‐Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; López de Munain, Adolfo; Pujol, Aurora Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 1(2020) Page Start: 105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy. Issue 9 (15th August 2020) Authors: Rodríguez‐Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Ruiz, Montserrat; Martínez, Juan José; Gourlaouen, Isabelle; Ka, Chandran; Lobato, Ricardo; Casasnovas, Carlos; Le Gac, Gérald; Fourcade, Stéphane; Pujol, Aurora Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 9(2020) Page Start: 1574 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mutation in the GFAP gene expands the phenotype of Alexander disease. Issue 12 (19th April 2019) Authors: Casasnovas, Carlos; Verdura, Edgard; Vélez, Valentina; Schlüter, Agatha; Pons-Escoda, Albert; Homedes, Christian; Ruiz, Montserrat; Fourcade, Stéphane; Launay, Nathalie; Pujol, Aurora Journal: Journal of medical genetics Issue: Volume 56:Issue 12(2019) Page Start: 846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. Issue 8 (11th July 2018) Authors: Ranea‐Robles, Pablo; Launay, Nathalie; Ruiz, Montserrat; Calingasan, Noel Ylagan; Dumont, Magali; Naudí, Alba; Portero‐Otín, Manuel; Pamplona, Reinald; Ferrer, Isidre; Beal, M Flint; Fourcade, Stéphane; Pujol, Aurora Journal: EMBO molecular medicine Issue: Volume 10:Issue 8(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. Issue 2 (5th October 2019) Authors: Verdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; Castellano, Antonio; Pujol, Aurora Journal: Journal of medical genetics Issue: Volume 57:Issue 2(2020) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization. (1st March 2022) Authors: Schlüter, Agatha; Rodríguez-Palmero, Agustí; Verdura, Edgard; Vélez-Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García-Cazorla, Angels; Armstrong, J... Other Names: author non-byline.; Arroyo Hugo A. author non-byline.; Barrios Andr´es author non-byline.; Campo Andrea author non-byline.; Castillo Tamara author non-byline.; Cazorla Rosario author non-byline.; Garc´ıa Mar´ıa Asunci´on author non-byline.; Garc´ıa Ainhoa author non-byline.; Hedrera Antonio auth... Journal: Neurology Issue: Volume 98:Number 9(2022) Page Start: e912 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization. (1st March 2022) Authors: Schlüter, Agatha; Rodríguez-Palmero, Agustí; Verdura, Edgard; Vélez-Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García-Cazorla, Angels; Armstrong, J... Journal: Neurology Issue: Volume 98:Number 9(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dietary intake of green tea polyphenols regulates insulin sensitivity with an increase in AMP‐activated protein kinase α content and changes in mitochondrial respiratory complexes. Issue 3 (23rd December 2012) Authors: Serrano, José C. E.; Gonzalo‐Benito, Hugo; Jové, Mariona; Fourcade, Stéphane; Cassanyé, Anna; Boada, Jordi; Delgado, Marco A.; Espinel, Alberto E.; Pamplona, Reinald; Portero‐Otín, Manuel Journal: Molecular nutrition & food research Issue: Volume 57:Issue 3(2013:Mar.) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation. (10th April 2018) Authors: Schlüter, Agatha; Sandoval, Juan; Fourcade, Stéphane; Díaz‐Lagares, Angel; Ruiz, Montserrat; Casaccia, Patrizia; Esteller, Manel; Pujol, Aurora Journal: Brain pathology Issue: Volume 28:Number 6(2018) Page Start: 902 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High‐dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy. (7th July 2020) Authors: Fourcade, Stéphane; Goicoechea, Leire; Parameswaran, Janani; Schlüter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Seyer, Alexandre; Colsch, Benoit; Calingasan, Noel Ylagan; Ferrer, Isidre; Beal, M. Flint; Sedel, Frédéric; Pujol, Aurora Journal: Brain pathology Issue: Volume 30:Number 5(2020) Page Start: 945 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗