1. CDKL5 variants: Improving our understanding of a rare neurologic disorder. (December 2017) Authors: Hector, Ralph D.; Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E.S.; Cobb, Stuart R. Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. Issue 6 (4th July 2018) Authors: Batllori, Marta; Molero‐Luis, Marta; Ormazabal, Aida; Montero, Raquel; Sierra, Cristina; Ribes, Antonia; Montoya, Julio; Ruiz‐Pesini, Eduardo; O'Callaghan, Mar; Pias, Leticia; Nascimento, Andrés; Palau, Francesc.; Armstrong, Judith; Yubero, Delia; Ortigoza‐Escobar, Juan D.; García‐Cazorla, Angels... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 6(2018) Page Start: 1147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis. Issue 8 (17th June 2019) Authors: Vidal, Silvia; Pascual‐Alonso, Ainhoa; Rabaza‐Gairí, Marc; Gerotina, Edgar; Brandi, Nuria; Pacheco, Paola; Xiol, Clara; Pineda, Mercè; Armstrong, Judith Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report. Issue 4 (24th April 2023) Authors: Amato, Maria Eugenia; Ricart, Silvia; Vicente, Maria Asunción; Martorell, Loreto; Armstrong, Judith; Fernández Isern, Guerau; Mascaro, José Manuel; Balsells, Sol; Alonso, Itziar; Serrano, Mercedes; Ortigoza‐Escobar, Juan Darío Journal: Clinical case reports Issue: Volume 11:Issue 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
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... 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) ↗
7. Epilepsy in Rett syndrome—Lessons from the Rett networked database. (19th March 2015) Authors: Nissenkorn, Andreea; Levy‐Drummer, Rachel S.; Bondi, Ori; Renieri, Alessandra; Villard, Laurent; Mari, Francesca; Mencarelli, Maria A.; Lo Rizzo, Caterina; Meloni, Ilaria; Pineda, Mercedes; Armstrong, Judith; Clarke, Angus; Bahi‐Buisson, Nadia; Mejaski, Bosnjak Vlatka; Djuric, Milena; Craiu, Dana... Journal: Epilepsia Issue: Volume 56:issue 4(2015:Apr.) Page Start: 569 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Issue 1 (December 2016) Authors: Cassis, Linda; Cortès-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; González, Maria; Ormazábal, Aida; Fons, Carme; Jou, Cristina; Sierra, Cristina; Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; O'Callaghan, M.; Casado, Mercedes; Montero, Raquel; Meavilla-Olivas, Silvia; Artuc... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Front Cover. Issue 4 (11th March 2020) Authors: Pascual‐Alonso, Ainhoa; Blasco, Laura; Vidal, Silvia; Gean, Esther; Rubio, Patricia; O'Callaghan, Mar; Martínez‐Monseny, Antonio F.; Castells, Alba Aina; Xiol, Clara; Català, Vicenç; Brandi, Nuria; Pacheco, Paola; Ros, Carlota; del Campo, Miguel; Guillén, Encarna; Ibañez, Salva; Sánchez, María J.... Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?. Issue 3 (9th January 2021) Authors: Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Malderge... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗