E
Elena Aller
Researcher at University of Valencia
Publications - 53
Citations - 2419
Elena Aller is an academic researcher from University of Valencia. The author has contributed to research in topics: Usher syndrome & Retinitis pigmentosa. The author has an hindex of 24, co-authored 47 publications receiving 1985 citations. Previous affiliations of Elena Aller include Instituto Politécnico Nacional.
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Journal ArticleDOI
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Inga Ebermann,Hendrik P. N. Scholl,Peter Charbel Issa,Elvir Becirovic,Jürgen Lamprecht,Bernhard Jurklies,José M. Millán,Elena Aller,Diana Mitter,Hanno J. Bolz +9 more
TL;DR: In this paper, the authors proposed that mutations in the C-terminal half of whirlin have previously been reported in non-syndromic deafness (DFNB31), both alterations identified in our USH2 family affect the long protein isoform.
Journal ArticleDOI
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Maite Calucho,Sara Bernal,Laura Alias,Francesca March,Adoración Venceslá,Francisco Javier Rodríguez-Álvarez,Elena Aller,Raquel M. Fernández,Salud Borrego,José M. Millán,Concepción Hernández-Chico,Ivon Cuscó,Pablo Fuentes-Prior,Eduardo F. Tizzano +13 more
TL;DR: A database of 3459 patients is assembled to delineate more universal prognostic rules regarding the influence of SMN2 copy number on SMA phenotype and to establish careful genotype-phenotype correlations, predict disease evolution, and to stratify patients for clinical trials.
Journal ArticleDOI
An Update on the Genetics of Usher Syndrome
José M. Millán,Elena Aller,Teresa Jaijo,Fiona Blanco-Kelly,Ascension Gimenez-Pardo,Carmen Ayuso +5 more
TL;DR: Usher syndrome is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction, and is the most common cause underlying deafness and blindness of genetic origin.
Journal ArticleDOI
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
Erwin van Wijk,Bert van der Zwaag,Theo A. Peters,Ulrike Zimmermann,Heleen te Brinke,Ferry F.J. Kersten,Tina Märker,Elena Aller,Lies H. Hoefsloot,Cor W. R. J. Cremers,Frans P.M. Cremers,Uwe Wolfrum,Marlies Knipper,Ronald Roepman,Hannie Kremer +14 more
TL;DR: Findings indicate that whirlin is part of a macromolecular PDZ protein scaffold that functions in the organization of the pre- and/or postsynaptic side of photoreceptor and hair cell synapses and has a pleiotropic function in both the retina and the inner ear.
Journal ArticleDOI
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
Laura Alias,Sara Bernal,Pablo Fuentes-Prior,M J Barceló,Eva Also,Rebeca Martínez-Hernández,Francisco Javier Rodríguez-Álvarez,Yolanda Martín,Elena Aller,Elena Grau,Ana Peciña,Guillermo Antiñolo,Enrique Galán,Alberto L. Rosa,Miguel Fernández-Burriel,Salud Borrego,José M. Millán,Concepción Hernández-Chico,Montserrat Baiget,Eduardo F. Tizzano +19 more
TL;DR: Most SMA cases are due to large genetic rearrangements in the repetitive region of the SMA locus, resulting in absence-dysfunction of the SMN1 gene, by contrast, ancestrally inherited small mutations are responsible for only a small number of cases.