Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome

Authors: García-Bohórquez, Belén, Barberán-Martínez, Pilar, Aller, Elena, Jaijo, Teresa, Mínguez, Pablo, Rodilla, Cristina, Fernández-Caballero, Lidia, Blanco-Kelly, Fiona, Ayuso, Carmen, Sanchis-Juan, Alba, Broekman, Sanne, de Vrieze, Erik, van Wijk, Erwin, García-García, Gema, Millán, José M.

Source: In Molecular Therapy - Nucleic Acids 10 December 2024 35(4)

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

Authors: Baviera‐Muñoz, Raquel, Carretero‐Vilarroig, Lidón, Muelas, Nuria, Sivera, Rafael, Sopena‐Novales, Pablo, Martínez‐Sanchis, Begoña, Sastre‐Bataller, Isabel, Campins‐Romeu, Marina, Martínez‐Torres, Irene, García‐Verdugo, Jose Manuel, Millán, Jose M., Jaijo, Teresa, Aller, Elena, Bataller, Luis

Source: Movement disorders clinical practice. 10(6):992-997

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196385186.0x000001&indx=1&recIds=ETOCvdc_100196385186.0x000001

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

Authors: Poyatos‐García, Javier, Martí, Pilar, Liquori, Alessandro, Muelas, Nuria, Pitarch, Inmaculada, Martinez‐Dolz, Luis, Rodríguez, Benjamin, Gonzalez‐Quereda, Lidia, Damiá, Maria, Aller, Elena, Selva‐Gimenez, Marta, Vilchez, Roger, Diaz‐Manera, Jordi, Alonso‐Pérez, Jorge, Barcena, José Eulalio, Jauregui, Amaia, Gámez, Josep, Aladrén, Jesus Angel, Fernández, Ariadna, Montolio, Marisol, Azorin, Inmaculada, Hervas, David, Casasús, Ana, Nieto, Marisa, Gallano, Pia, Sevilla, Teresa, Vilchez, Juan Jesus

Source: Annals of neurology. 92(5):793-806

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163103887.0x000001&indx=1&recIds=ETOCvdc_100163103887.0x000001

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Authors: Muelas, Nuria, Carretero-Vilarroig, Lidón, Martí, Pilar, Azorín, Inmaculada, Frasquet, Marina, Poyatos-García, Javier, Portela, Sofía, Martínez-Vicente, Laura, Argente-Escrig, Herminia, Sivera, Rafael, Vázquez-Costa, Juan F., Tárrega, María, Más-Estellés, Fernando, Vílchez, Roger, Bataller, Luis, Aller, Elena, Diago, Luján, Fores-Toribio, Lorena, Sevilla, Teresa, Vilchez, Juan J.

Source: Journal of Neurology; Jan2025, Vol. 272 Issue 1, p1-15, 15p

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations

Authors: Baviera-Muñoz, Raquel, Campins-Romeu, Marina, Carretero-Vilarroig, Lidón, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Vázquez-Costa, Juan F., Muelas, Nuria, Sevilla, Teresa, Vílchez, Juan J., Aller, Elena, Jaijo, Teresa, Bataller, Luis, Espinós, Carmen

Source: In Journal of the Neurological Sciences 15 October 2021 429

Concomitant Mutations in Inherited Retinal Dystrophies: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously

Authors: Rodríguez-Muñoz, Ana, García-Bohórquez, Belén, Udaondo, Patricia, Hervás-Ontiveros, Ana, Salom, David, Aller, Elena, Jaijo, Teresa, García-García, Gema, Millán, José

Source: Retina. 41(9):1966-1985

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627400133&indx=1&recIds=ETOCRN627400133

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies

Authors: Rodríguez-Muñoz, Ana, Aller, Elena, Jaijo, Teresa, González-García, Emilio, Cabrera-Peset, Ana, Gallego-Pinazo, Roberto, Udaondo, Patricia, Salom, David, García-García, Gema, Millán, José M.

Source: In The Journal of Molecular Diagnostics April 2020 22(4):532-543

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Authors: Palencia‐Campos, Adrián, Martínez‐Fernández, María‐Luisa, Altunoglu, Umut, Soto‐Bielicka, Patricia, Torres, Antonio, Marín, Purificación, Aller, Elena, Şentürk, Leyli, Berköz, Ömer, Yıldıran, Mehmet, Kayserili, Hülya, Gil‐Camarero, Elena, Colli‐Lista, Gloria, Sanchís‐Calvo, Amparo, Carretero, Alba, Guillén‐Navarro, Encarna, López‐González, Vanesa, Ballesta‐Martínez, María, Rosell, Jordi, Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Cuevas‐Catalina, Lourdes, Torres‐Saavedra, María‐Nieves, Nevado, Julian, Tenorio, Jair, Lapunzina, Pablo, Bermejo‐Sánchez, Eva, Ruiz‐Pérez, Víctor L.

Source: Human mutation. 41(1):265-276

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100096238210.0x000001&indx=1&recIds=ETOCvdc_100096238210.0x000001

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

Authors: Baviera‐Muñoz, Raquel, Carretero‐Vilarroig, Lidón, Pedro‐Ibor, Ana, Jaijo, Teresa, Del Valle‐Carranza, Andrea, Martínez‐Torres, Irene, Millán, Jose M., Bataller, Luis, Aller, Elena

Source: Movement Disorders; Sep2024, Vol. 39 Issue 9, p1641-1644, 4p

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Authors: Calucho, Maite, Bernal, Sara, Alías, Laura, March, Francesca, Venceslá, Adoración, Rodríguez-Álvarez, Francisco J., Aller, Elena, Fernández, Raquel M., Borrego, Salud, Millán, José M., Hernández-Chico, Concepción, Cuscó, Ivon, Fuentes-Prior, Pablo, Tizzano, Eduardo F. ^*

Source: In Neuromuscular Disorders March 2018 28(3):208-215

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

Authors: Baviera-Muñoz, Raquel, Carretero-Vilarroig, Lidón, Vázquez-Costa, Juan Francisco, Morata-Martínez, Carlos, Campins-Romeu, Marina, Muelas, Nuria, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Pérez-García, Julia, Sivera, Rafael, Sevilla, Teresa, Vilchez, Juan J., Jaijo, Teresa, Espinós, Carmen, Millán, Jose M., Bataller, Luis, Aller, Elena

Source: Neurology.Genetics. 8(6)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177501895.0x000001&indx=1&recIds=ETOCvdc_100177501895.0x000001

USH2A Gene Editing Using the CRISPR System

Authors: Fuster-García, Carla, García-García, Gema, González-Romero, Elisa, Jaijo, Teresa, Sequedo, María D., Ayuso, Carmen, Vázquez-Manrique, Rafael P., Millán, José M., Aller, Elena

Source: In Molecular Therapy - Nucleic Acids 15 September 2017 8:529-541

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Authors: Slijkerman, Radulfus WN ^**, Vaché, Christel ^**, Dona, Margo, García-García, Gema, Claustres, Mireille, Hetterschijt, Lisette, Peters, Theo A, Hartel, Bas P, Pennings, Ronald JE, Millan, José M, Aller, Elena, Garanto, Alejandro, Collin, Rob WJ, Kremer, Hannie, Roux, Anne-Françoise ^*, Van Wijk, Erwin ^{*, *}

Source: In Molecular Therapy - Nucleic Acids 2016 5

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.

Authors: Borrego-Hernández, Daniel, Vázquez-Costa, Juan Francisco, Domínguez-Rubio, Raúl, Expósito-Blázquez, Laura, Aller, Elena, Padró-Miquel, Ariadna, García-Casanova, Pilar, Colomina, María J., Martín-Arriscado, Cristina, Osta, Rosario, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, Povedano-Panadés, Mónica, García-Redondo, Alberto

Source: Biomedicines; Feb2024, Vol. 12 Issue 2, p356, 13p

Subject Terms: SPINOCEREBELLAR ataxia, FRONTOTEMPORAL lobar degeneration, ODDS ratio, AMYOTROPHIC lateral sclerosis, SURVIVAL rate, MEDICAL referrals

Geographic Terms: SPAIN

Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina

Authors: Martínez-Fernández de la Cámara, Cristina, a<%2Fce%3Asup>+Dolores%22">Sequedo, Mhttp://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN631239673&indx=1&recIds=ETOCRN631239673

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Authors: Moreau-Le Lan, Sarah¹, Aller, Elena^2,3,4, Calabria, Ines¹, Gonzalez-Tarancon, Lola¹, Cardona-Gay, Cristina¹, Martinez-Matilla, Marina¹, Aparisi, Maria J.¹, Selles, Jorge¹, Sagath, Lydia⁵, Pitarch, Inmaculada⁶, Muelas, Nuria^7,8, Cervera, Jose V.^2,7 sequencing_service@iislafe.es, Millan, Jose M.^1,3,4, Pedrola, Laia¹

Source: PLoS ONE. 12/5/2018, Vol. 13 Issue 12, p1-12. 12p.

Subject Terms: *GENETIC mutation, *NEMALINE myopathy, *COMPUTATIONAL biology, *MEDICAL screening, *NUCLEOTIDE sequencing, *RNA splicing

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Authors: Fuster-García, Carla, García-García, Gema, Jaijo, Teresa, Fornés, Neus, Ayuso, Carmen, Fernández-Burriel, Miguel, Sánchez-De la Morena, Ana, Aller, Elena, Millán, José M.

Source: Scientific reports. 8(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130655177.0x000001&indx=1&recIds=ETOCvdc_100130655177.0x000001

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.

Authors: Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M., Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana

Source: International Journal of Molecular Sciences; Aug2022, Vol. 23 Issue 15, p8289-8289, 13p

Subject Terms: SPINAL muscular atrophy, NEUROMUSCULAR diseases, HAPLOTYPES, GENETIC variation, CHLOROPLAST DNA

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

Authors: Rodriguez-Muñoz, Ana, Liquori, Alessandro, García-Bohorquez, Belén, Jaijo, Teresa, Aller, Elena, Millán, José M., García-García, Gema

Source: Scientific Reports; 1/7/2022, Vol. 12 Issue 1, p1-8, 8p

Subject Terms: RETINAL degeneration, GENETIC engineering, MOLECULAR diagnosis, VISION, DIAGNOSIS, PHOTORECEPTORS