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. 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) ↗
5. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020) Authors: Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe... Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 808 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. Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy. Issue 5 (19th October 2016) Authors: Verdura, Edgard; Hervé, Dominique; Bergametti, Françoise; Jacquet, Clémence; Morvan, Typhaine; Prieto‐Morin, Carol; Mackowiak, Alexandre; Manchon, Eric; Hosseini, Hassan; Cordonnier, Charlotte; Girard‐Buttaz, Isabelle; Rosenstingl, Sophie; Hagel, Christian; Kuhlenbaümer, Gregor; Leca‐Radu, Elena;... Journal: Annals of neurology Issue: Volume 80:Issue 5(2016:Nov.) Page Start: 741 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy. Issue 6 (20th October 2021) Authors: Aloui, Chaker; Hervé, Dominique; Marenne, Gaelle; Savenier, Florian; Le Guennec, Kilan; Bergametti, Francoise; Verdura, Edgard; Ludwig, Thomas E.; Lebenberg, Jessica; Jabeur, Waliyde; Morel, Hélène; Coste, Thibault; Demarquay, Geneviève; Bachoumas, Panagiotis; Cogez, Julien; Mathey, Guillaume; Be... Journal: Annals of neurology Issue: Volume 90:Issue 6(2021) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence. Issue 12 (30th August 2022) Authors: Verdura, Edgard; Senger, Bruno; Raspall-Chaure, Miquel; Schlüter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Casasnovas, Carlos; Rodriguez-Palmero, Agustí; Macaya, Alfons; Becker, Hubert Dominique; Pujol, Aurora Journal: Journal of medical genetics Issue: Volume 59:Issue 12(2022) Page Start: 1227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗