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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 16-jun-2023 | A Neuroligin-1 mutation associated with Alzheimer's disease produces memory and age-dependent impairments in hippocampal plasticity | Arias-Aragón, Francisco; Tristán Clavijo, E. CSIC; Martínez-Gallego, Irene; Robles Lanuza, Estefanía CSIC; Coatl-Cuaya, Heriberto; Martín-Cuevas, Celia CSIC ORCID CVN; Sánchez-Hidalgo, Ana C. CSIC; Rodríguez-Moreno, Antonio CSIC ORCID; Martínez Mir, Amalia CSIC ORCID; Scholl, Francisco G. | artículo |
| closedAccess | | feb-1998 | A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33 | Bayés, Mónica; Goldaracena, Begoña; Martínez Mir, Amalia CSIC ORCID; Iragui-Madoz, María Ingancia; Solans, Teresa; Chivelet, Pilar; Bussaglia, Elena; Ramos-Arroyo, María Antonia; Baiget, Montserrat; Vilageliu, L.; Balcells, Susana; González-Duarte, Roser; Grinberg, Daniel | artículo |
| openAccess |  | feb-1997 | A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21 | Martínez Mir, Amalia CSIC ORCID; Bayés, Mónica; Vilageliu, L.; Grinberg, Daniel; Ayuso, Carmen; Río, Teresa del; García-Sandoval, Blanca; Bussaglia, Elena; Baiget, Montserrat; González-Duarte, Roser; Balcells, Susana | artículo |
| closedAccess | | 20-ago-2003 | A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma | Kljuic, Ana; Gilead, Leon; Martínez Mir, Amalia CSIC ORCID; Frank, Jorge; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
| openAccess |  | 9-may-2004 | A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa | Chuang, G. S.; Martínez Mir, Amalia CSIC ORCID; Yu, H.-S.; Sung, F.-Y.; Chuang, R. Y.; Cserhalmi-Friedman, P. B.; Christiano, Angela M. | artículo |
| closedAccess | | 14-mar-2006 | A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma | Ashoor, G.; Massé, M.; García Luciano, L. M.; Sheffer, R.; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
| openAccess |  | 6-ago-2004 | A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis | Moss, Celia; Martínez Mir, Amalia CSIC ORCID; Lam, H.; Tadin-Strapps, M.; Kljuic, Ana; Christiano, Angela M. | artículo |
| openAccess |  | 2003 | A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect | Hu, Guofang; Yildirim, Mehmet; Baysal, Vahide; Yerebakan, Ozlem; Yilmaz, Ertan; Inaloz, H. Sherhat; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Tok Çelebi, Julide | artículo |
| closedAccess | | 30-ene-2007 | A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families | O'Regan, G. M.; Zurada, J.; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Irvine, A. D. | artículo |
| closedAccess |  | dic-2015 | A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function | Tristán Clavijo, E. CSIC; Camacho García, R. J. CSIC; Robles Lanuza, Estefanía CSIC; Ruiz, Agustín; van der Zee, Julie; van Broeckhoven, Christine; Hernández, Isabel; Martínez Mir, Amalia CSIC ORCID; Scholl, Francisco G. | artículo |
| closedAccess | | 19-nov-2002 | Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies | Paloma, Eva; Coco, Rosa; Martínez Mir, Amalia CSIC ORCID; Vilageliu, L.; Balcells, Susana; González-Duarte, Roser | artículo |
| closedAccess | | 1-abr-2004 | Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population | Adriani, M.; Martínez Mir, Amalia CSIC ORCID; Fusco, Francesca; Busiello, R.; Frank, Jorge; Telese, S.; Matrecano, E.; Ursini, Matilde Valeria; Christiano, Angela M.; Pignata, C. | artículo |
| closedAccess |  | sep-2015 | Aproximaciones genéticas para el estudio de enfermedades mentales | Martínez Mir, Amalia CSIC ORCID | comunicación de congreso |
| closedAccess | | 23-jul-2003 | Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene | Paradisi, M.; Chuang, G. S.; Angelo, C.; Pedicelli, Cristina; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | artículo |
| closedAccess | | 5-oct-2002 | Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis | Henn, Wolfram; Zlotogorski, Abraham; Lam, H.; Martínez Mir, Amalia CSIC ORCID; Zaun, Hansotto; Christiano, Angela M. | artículo |
| closedAccess | | 6-ago-2007 | Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene | Michailidis, Eleni; Theos, Amy; Zlotogorski, Abraham; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | artículo |
| closedAccess |  | sep-2013 | Autistic-like behavior in a mouse model with impaired ß-neurexin-1 function | Rabaneda, Luis G. CSIC; Robles Lanuza, Estefanía CSIC; Páez Gómez, Juan Antonio CSIC; Gómez Scholl, F. CSIC ORCID; Martínez Mir, Amalia CSIC ORCID | póster de congreso |
| openAccess |  | nov-1996 | Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease | Bayés, Mónica; Martínez Mir, Amalia CSIC ORCID; Valverde, Diana; Río, E. del; Vilageliu, L.; Grinberg, Daniel; Balcells, Susana; Ayuso, Carmen; Baiget, Montserrat; González-Duarte, Roser | artículo |
| openAccess |  | 2003 | Basic principles of Genetics | Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | capítulo de libro |
| closedAccess | | 6-nov-2001 | Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineage | Martínez Mir, Amalia CSIC ORCID; Cañestro, Cristian; González-Duarte, Roser; Albalat, Ricard | artículo |
