1. Analysis of the C9orf72 gene in spinal muscular atrophy patients. Issue 7 (December 2014) Authors: Alías, Laura; Bernal, Sara; Barceló, Maria J.; Martínez-Hernández, Rebeca; Martínez, Elisabeth; Baiget, Montserrat; Tizzano, Eduardo F. Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 15:Issue 7/8(2014) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. Issue 6 (6th April 2021) Authors: Blasco‐Pérez, Laura; Paramonov, Ida; Leno, Jordi; Bernal, Sara; Alias, Laura; Fuentes‐Prior, Pablo; Cuscó, Ivon; Tizzano, Eduardo F. Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 787 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases. Issue 3 (3rd November 2020) Authors: Rovira‐Moreno, Eulàlia; Abuli, Anna; Codina‐Sola, Marta; Valenzuela, Irene; Serra‐Juhe, Clara; Cuscó, Ivon; Borregán, Mar; Cueto‐González, Anna; Vendrell, Teresa; López‐Grondona, Fermina; Brun‐Gasca, Carme; Brignani, Eduardo; Martínez‐Ribot, Laia; Garci‐Espejo, Regla; Cruz, Jordi; García‐Arumí, E... Journal: Journal of genetic counseling Issue: Volume 30:Issue 3(2021) Page Start: 693 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. (September 2020) Authors: Kirschner, Janbernd; Butoianu, Nina; Goemans, Nathalie; Haberlova, Jana; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; van der Pol, W. Ludo; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F.; Ziegler, Andreas; Servais, Laurent; Muntoni, Francesco Journal: European journal of paediatric neurology Issue: Volume 28(2020) Page Start: 38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1. Issue 11 (8th September 2020) Authors: Valenzuela, Irene; Codina, Marta; Fernández‐Álvarez, Paula; Mur, Pilar; Valle, Laura; Tizzano, Eduardo F.; Cuscó, Ivon Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2742 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). Issue 12 (30th October 2019) Authors: Martin‐Nalda, Andrea; Cueto‐González, Anna M.; Argudo‐Ramírez, Ana; Marin‐Soria, Jose L.; Martinez‐Gallo, Monica; Colobran, Roger; Plaja, Albert; Castells, Neus; Riviere, Jacques; Tizzano, Eduardo F.; Soler‐Palacin, Pere Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neurofilament as a potential biomarker for spinal muscular atrophy. Issue 5 (17th April 2019) Authors: Darras, Basil T.; Crawford, Thomas O.; Finkel, Richard S.; Mercuri, Eugenio; De Vivo, Darryl C.; Oskoui, Maryam; Tizzano, Eduardo F.; Ryan, Monique M.; Muntoni, Francesco; Zhao, Guolin; Staropoli, John; McCampbell, Alexander; Petrillo, Marco; Stebbins, Christopher; Fradette, Stephanie; Farwell, W... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 5(2019) Page Start: 932 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Issue 7 (16th May 2021) Authors: Szot, Justin O.; Slavotinek, Anne; Chong, Karen; Brandau, Oliver; Nezarati, Marjan; Cueto‐González, Anna M.; Patel, Millan S.; Devine, Walter P.; Rego, Shannon; Acyinena, Alicia P.; Shannon, Patrick; Myles‐Reid, Diane; Blaser, Susan; Mieghem, Tim V.; Yavuz‐Kienle, Halenur; Skladny, Heyko; Miller,... Journal: Human mutation Issue: Volume 42:Issue 7(2021) Page Start: 862 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy. (December 2020) Authors: Cuscó, Ivon; Bernal, Sara; Blasco-Pérez, Laura; Calucho, Maite; Alias, Laura; Fuentes-Prior, Pablo; Tizzano, Eduardo F. Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention. (November 2018) Authors: Tizzano, Eduardo F.; Zafeiriou, Dimitrios Journal: European journal of paediatric neurology Issue: Volume 22:Number 6(2018:Nov.) Page Start: 944 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗