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. A view on clinical genetics and genomics in Spain: of challenges and opportunities. Issue 4 (July 2016) Authors: Pàmpols, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo; Gozalo‐Salellas, Ignasi; Pérez‐Jurado, Luis A.; Pujol, Aurora Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 4(2016) Page Start: 376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019) Authors: Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angel... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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) ↗
9. 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) ↗
10. Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study. (August 2022) Authors: Davalos, Veronica; García-Prieto, Carlos A.; Ferrer, Gerardo; Aguilera-Albesa, Sergio; Valencia-Ramos, Juan; Rodríguez-Palmero, Agustí; Ruiz, Montserrat; Planas-Serra, Laura; Jordan, Iolanda; Alegría, Iosune; Flores-Pérez, Patricia; Cantarín, Verónica; Fumadó, Victoria; Viadero, Maria Teresa; Rod... Journal: EClinicalMedicine Issue: Volume 50(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗