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

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Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process von Ayuso, Carmen, Millán, José M, Mancheño, Marta, Dal-Ré, Rafael

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Usher Syndrome: Genetics of a Human Ciliopathy von Fuster-Garcia, Carla, Garcia-Bohorquez, Belen, Rodriguez-Munoz, Ana, Aller, Elena, Jaijo, Teresa, Millan, Jose M., Garcia-Garcia, Gema

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Effectiveness of telemedicine psychoeducational interventions for adults with non‐oncological chronic disease: A systematic review von Sánchez‐Gutiérrez, Carmen, Gil‐García, Eugenia, Rivera‐Sequeiros, Adriana, López‐Millán, José M.

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

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Differential efficacy with epidural blood and fibrin patches for the treatment of post-dural puncture headache von López-Millán, José M, Fernández, Antonio Ordóñez, Fernández, Jorge Muriel, Dueñas Díez, José L

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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene von Alías, Laura, Bernal, Sara, Fuentes-Prior, Pablo, Barceló, María Jesus, Also, Eva, Martínez-Hernández, Rebeca, Rodríguez-Alvarez, Francisco J., Martín, Yolanda, Aller, Elena, Grau, Elena, Peciña, Ana, Antiñolo, Guillermo, Galán, Enrique, Rosa, Alberto L., Fernández-Burriel, Miguel, Borrego, Salud, Millán, José M., Hernández-Chico, Concepción, Baiget, Montserrat, Tizzano, Eduardo F.

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Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients von Blanco-Kelly, Fiona, Jaijo, Teresa, Aller, Elena, Avila-Fernandez, Almudena, López-Molina, María Isabel, Giménez, Ascensión, García-Sandoval, Blanca, Millán, José M, Ayuso, Carmen

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Retinitis pigmentosa and allied conditions today: a paradigm of translational research von Ayuso, Carmen, Millan, Jose M

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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition von Deveault, Catherine, Billingsley, Gail, Duncan, Jacque L., Bin, Jenea, Theal, Rebecca, Vincent, Ajoy, Fieggen, Karen J., Gerth, Christina, Noordeh, Nima, Traboulsi, Elias I., Fishman, Gerald A., Chitayat, David, Knueppel, Tanja, Millán, José M., Munier, Francis L., Kennedy, Debra, Jacobson, Samuel G., Innes, A. Micheil, Mitchell, Grant A., Boycott, Kym, Héon, Elise

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Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes von Rodriguez-Muñoz, Ana, Liquori, Alessandro, García-Bohorquez, Belén, Jaijo, Teresa, Aller, Elena, Millán, José M., García-García, Gema

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Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies von 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.

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A genetic basis for mechanosensory traits in humans von Frenzel, Henning, Bohlender, Jörg, Pinsker, Katrin, Wohlleben, Bärbel, Tank, Jens, Lechner, Stefan G, Schiska, Daniela, Jaijo, Teresa, Rüschendorf, Franz, Saar, Kathrin, Jordan, Jens, Millán, José M, Gross, Manfred, Lewin, Gary R

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Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype von Esteve-Garcia, Anna, Cobos, Estefania, Sau, Cristina, Padró-Miquel, Ariadna, Català-Mora, Jaume, Barberán-Martínez, Pilar, Millán, José M, García-García, Gema, Aguilera, Cinthia

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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families von Pérez-Carro, Raquel, Blanco-Kelly, Fiona, Galbis-Martínez, Lilián, García-García, Gema, Aller, Elena, García-Sandoval, Blanca, Mínguez, Pablo, Corton, Marta, Mahíllo-Fernández, Ignacio, Martín-Mérida, Inmaculada, Avila-Fernández, Almudena, Millán, José M, Ayuso, Carmen

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A novel gene for Usher syndrome type 2 : mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss von EBERMANN, Inga, SCHOLL, Hendrik P. N, ISSA, Peter Charbel, BECIROVIC, Elvir, LAMPRECHT, Jurgen, JURKLIES, Bernhard, MILLAN, José M, ALLER, Elena, MITTER, Diana, BOLZ, Hanno

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 von 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, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F

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Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa von Barragán, Isabel, Borrego, Salud, Pieras, Juan Ignacio, Pozo, María González‐del, Santoyo, Javier, Ayuso, Carmen, Baiget, Montserrat, Millan, José M, Mena, Marcela, El‐Aziz, Mai M. Abd, Audo, Isabelle, Zeitz, Christina, Littink, Karin W, Dopazo, Joaquín, Bhattacharya, Shomi S, Antiñolo, Guillermo

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Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F von González-del Pozo, María, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Montero-de-Espinosa, Ignacio, Millán, José M, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo

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

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