1. Acetazolamide Improves Episodic Ataxia in a Patient with Non‐Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants. Issue 7 (22nd August 2022) Authors: Martorell, Loreto; Macaya, Alfons; Pérez‐Dueñas, Belén; Ortigoza‐Escobar, Juan Darío Journal: Movement disorders clinical practice Issue: Volume 9:Issue 7(2022) Page Start: 979 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation. (20th September 2016) Authors: Fernández-Torrón, Roberto; García-Puga, Mikel; Emparanza, José-Ignacio; Maneiro, Miren; Cobo, Ana-María; Poza, Juan-José; Espinal, Juan-Bautista; Zulaica, Miren; Ruiz, Irune; Martorell, Loreto; Otaegui, David; Matheu, Ander; López de Munain, Adolfo Journal: Neurology Issue: Volume 87:Number 12(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genomic characterization of two patients with a duplication of 9q34. Issue 1 (January 2015) Authors: Natera-de Benito, Daniel; Fons, Carmen; Ulate-Campos, Adriana; Martorell, Loreto; Póo, Pilar Journal: Clinical dysmorphology Issue: Volume 24:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study. Issue 11 (28th August 2017) Authors: Darling, Alejandra; Tello, Cristina; Martí, María Josep; Garrido, Cristina; Aguilera‐Albesa, Sergio; Tomás Vila, Miguel; Gastón, Itziar; Madruga, Marcos; González Gutiérrez, Luis; Ramos Lizana, Julio; Pujol, Montserrat; Gavilán Iglesias, Tania; Tustin, Kylee; Lin, Jean Pierre; Zorzi, Giovanna; Na... Journal: Movement disorders Issue: Volume 32:Issue 11(2017) Page Start: 1620 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review. Issue 1 (24th October 2020) Authors: Casas‐Alba, Dídac; López‐Sala, Laura; Pérez‐Ordóñez, Marta; Mari‐Vico, Rosanna; Bolasell, Mercè; Martínez‐Monseny, Antonio F.; Muchart, Jordi; Fernández‐Fernández, José M.; Martorell, Loreto; Serrano, Mercedes Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Issue 2 (12th January 2012) Authors: Bachmann-Gagescu, Ruxandra; Ishak, Gisele E; Dempsey, Jennifer C; Adkins, Jonathan; O'Day, Diana; Phelps, Ian G; Gunay-Aygun, Meral; Kline, Antonie D; Szczaluba, Krzysztof; Martorell, Loreto; Alswaid, Abdulrahman; Alrasheed, Shatha; Pai, Shashidhar; Izatt, Louise; Ronan, Anne; Parisi, Melissa A; ... Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Issue 11 (12th September 2017) Authors: Amyere, Mustapha; Revencu, Nicole; Helaers, Raphaël; Pairet, Eleonore; Baselga, Eulalia; Cordisco, Maria; Chung, Wendy; Dubois, Josée; Lacour, Jean-Philippe; Martorell, Loreto; Mazereeuw-Hautier, Juliette; Pyeritz, Reed E.; Amor, David J.; Bisdorff, Annouk; Blei, Francine; Bombei, Hannah; Dompmar... Journal: Circulation Issue: Volume 136:Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. Issue 6 (24th March 2017) Authors: Alsina Casanova, Miguel; Monteagudo‐Sánchez, Ana; Rodiguez Guerineau, Luciana; Court, Franck; Gazquez Serrano, Isabel; Martorell, Loreto; Rovira Zurriaga, Carlota; Moore, Gudrun E.; Ishida, Miho; Castañon, Montserrat; Moliner Calderon, Elisenda; Monk, David; Moreno Hernando, Julio Journal: Human mutation Issue: Volume 38:Issue 6(2017) Page Start: 615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutation of PACS1: the milder end of the spectrum. Issue 4 (October 2018) Authors: Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; Martorell, Loreto; Yubero, Delia; Arsmtrong, Judith; Maynou, Joan; Fernandez, Guerau; del Carmen Salgado, Maria; Palau, Francesc; Serrano, Mercedes Journal: Clinical dysmorphology Issue: Volume 27:Issue 4(2018:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗