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. Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. Issue 4 (11th December 2021) Authors: Iznardo, Helena; Bredrup, Cecilie; Bernal, Sara; Gladkauskas, Titas; Mascaró, José‐Manuel; Roé, Esther; Baselga, Eulalia Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Excellent response to secukinumab in an infant with severe generalized pustular psoriasis. Issue 6 (4th February 2021) Authors: López‐Sánchez, Cristina; Falla, Lina María; Roé‐Crespo, Esther; Arostegui, Juan Ignacio; Mozos, Ana; Bernal, Sara; Iznardo, Helena; Baselga‐Torres, Eulalia Journal: Journal of dermatology Issue: Volume 48:Issue 6(2021) Page Start: 907 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genotype–phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina. (November 2016) Authors: Medrano, Sofía; Monges, Soledad; Gravina, Luis Pablo; Alías, Laura; Mozzoni, Julieta; Aráoz, Hilda Verónica; Bernal, Sara; Moresco, Angélica; Chertkoff, Lilien; Tizzano, Eduardo Journal: European journal of paediatric neurology Issue: Volume 20:Number 6(2016:Nov.) Page Start: 910 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes. (5th November 2020) Authors: Hernandez, Isabel; Gelpi, Ellen; Molina‐Porcel, Laura; Bernal, Sara; Rodríguez‐Santiago, Benjamín; Dols‐Icardo, Oriol; Ruiz, Agustín; Alcolea, Daniel; Boada, Mercè; Lleó, Alberto; Clarimón, Jordi Journal: Neuropathology & applied neurobiology Issue: Volume 47:Number 4(2021) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease. Issue 1 (4th December 2020) Authors: Gonzalez‐Quereda, Lidia; Pagola, Inmaculada; Fuentes Prior, Pablo; Bernal, Sara; Rodriguez, Maria Jose; Torné, Laura; Salgado Garrido, Josefa; Gallano, Pia; Jericó, Ivonne Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease. Issue 1 (4th December 2020) Authors: Gonzalez‐Quereda, Lidia; Pagola, Inmaculada; Fuentes Prior, Pablo; Bernal, Sara; Rodriguez, Maria Jose; Torné, Laura; Salgado Garrido, Josefa; Gallano, Pia; Jericó, Ivonne Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 294 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. Synaptic defects in type I spinal muscular atrophy in human development1. Issue 1 (17th December 2012) Authors: Martínez‐Hernández, Rebeca; Bernal, Sara; Also‐Rallo, Eva; Alías, Laura; Barceló, MaJesús; Hereu, Marta; Esquerda, Josep E; Tizzano, Eduardo F Journal: Journal of pathology Issue: Volume 229:Issue 1(2013) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗