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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | nov-2001 | Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa | Cserhalmi-Friedman, P. B.; Garzón, María C.; Guzman, Edwin; Martínez Mir, Amalia CSIC ORCID; Chung, Wendy K.; Anyane-Yeboa, Kwame; Christiano, Angela M. | artículo |
| closedAccess |  | oct-2013 | Molecular and behavioral characterization of transgenic mice with impaired beta-neurexin-1 function as a mouse model of autism | Rabaneda, Luis G. CSIC; Robles Lanuza, Estefanía CSIC; Martínez Mir, Amalia CSIC ORCID; Gómez Scholl, F. CSIC ORCID | póster de congreso |
| openAccess |  | 2002 | Multiple Cutaneous and Uterine Leiomyomas: Refinement of the Genetic Locus for Multiple Cutaneous and Uterine Leiomyomas on Chromosome 1q42.3–43 | Martínez Mir, Amalia CSIC ORCID; Gordon, Derek; Horev, Liran; Klapholz, Laurent; Ott, Jurg; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
| closedAccess | | 16-nov-2005 | Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene | Chuang, G. S.; Martínez Mir, Amalia CSIC ORCID; Engler, Danielle E.; Gmyrek, R. F.; Zlotogorski, Abraham; Christiano, Angela M. | artículo |
| closedAccess |  | oct-2015 | Mutation p.Arg324Thr in the KCNA1 gene alters Kv1.1 channel function in a family with episodic ataxia | Tristán Clavijo, E. CSIC; Scholl, Francisco G.; Iglesias Escalera, G.; Macaya Ruiz, A.; Martínez Mir, Amalia CSIC ORCID; Castellano, Antonio CSIC ORCID | póster de congreso |
| openAccess |  | 23-ene-2014 | Mutation prevalence of cerebral cavernous malformation genes in Spanish patients | Mondéjar, Rufino; Solano, Francisca; Rubio, Rocío; Delgado-Valverde, Mercedes CSIC ORCID; Pérez-Sempere, Ángel; González-Meneses, Antonio; Vendrell, Teresa; Izquierdo, Guillermo; Martínez Mir, Amalia CSIC ORCID; Lucas, Miguel | artículo |
| closedAccess |  | 2012 | Mutations affecting synaptic levels of neurexin-1ß in autism and mental retardation | Camacho García, R. J. CSIC; Planelles Fernández, I.; Margalef Estivil, M.; Pecero López, M. L. CSIC; Martínez-Leal, R.; Aguilera, Francisco; Vilella, Elisabet; Martínez Mir, Amalia CSIC ORCID; Scholl, Francisco G. | artículo |
| closedAccess |  | mar-2013 | Neurexin and neuroligin genes in Alzheimer's disease | Ruiz, Agustín; Martínez Mir, Amalia CSIC ORCID; González-Pérez, Antonio; Gayán, Javier; Antúnez, Carmen; Marín, Juan J. CSIC; Boada, Mercè; López-Arrieta, Jesús; Fernández, Evaristo; Ramírez Lorca, Reposo CSIC ORCID; Sáez, María Eugenia; Scholl, Francisco G.; Real, Luis Miguel CSIC ORCID | póster de congreso |
| closedAccess | | 14-jul-2005 | Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions | Ashoor, G.; Greenstein, Robert M.; Lam, H.; Martínez Mir, Amalia CSIC ORCID; Zlotogorski, Abraham; Christiano, Angela M. | artículo |
| closedAccess | | oct-2002 | Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa | Paloma, Eva; Martínez Mir, Amalia CSIC ORCID; García-Sandoval, Blanca; Ayuso, Carmen; Vilageliu, L.; González-Duarte, Roser; Balcells, Susana | artículo |
| closedAccess |  | nov-2015 | Nueva mutación del gen MYH7 causante de la miopatía distal de Laing en Andalucía | Carbonell-Corvillo, Pilar; Martínez Mir, Amalia CSIC ORCID; Paradas, Carmen CSIC ORCID | comunicación de congreso |
| openAccess |  | 2010 | Papel de la proteína de adhesión sináptica neurexina 1 en autismo | Camacho García, R. J. CSIC; Pecero López, M. L. CSIC; Servián Morilla, E. CSIC ORCID; Planelles Fernández, I.; Margalef Estivil, M.; Meléndez Cadenas, Ricardo CSIC; Vilella, Elisabet; Martínez Mir, Amalia CSIC ORCID; Gómez Scholl, F. CSIC ORCID | comunicación de congreso |
| openAccess |  | 1997 | Putative association of a mutant ROM1 allele with retinitis pigmentosa | Martínez Mir, Amalia CSIC ORCID; Vilela, Concha; Bayés, Mónica; Valverde, Diana; Dain, L.; Beneyto, Magdalena; Marco, Marina; Baiget, Montserrat; Grinberg, Daniel; Balcells, Susana; González-Duarte, Roser; Vilageliu, L. | artículo |
| closedAccess |  | dic-2013 | Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses | Camacho García, R. J. CSIC; Hervás, Amaia; Toma, Claudio; Balmana, Noemí; Cormand, Bru; Martínez Mir, Amalia CSIC ORCID; Scholl, Francisco G. | artículo |
| openAccess |  | ene-1998 | Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR | Martínez Mir, Amalia CSIC ORCID; Paloma, Eva; Allikmets, Rando; Ayuso, Carmen; Río, Teresa del; Dean, Michael; Vilageliu, L.; González-Duarte, Roser; Balcells, Susana | artículo |
| openAccess |  | 2005 | Search for Susceptibility Genes in Alopecia Areata | Martínez Mir, Amalia CSIC ORCID; Zlotogorski, Abraham; Christiano, Angela M. | comunicación de congreso |
| openAccess |  | ene-2022 | Selective expression of the neurexin substrate for presenilin in the adult forebrain causes deficits in associative memory and presynaptic plasticity | Sánchez-Hidalgo, Ana C. CSIC; Arias-Aragón, Francisco; Romero-Barragán, M. Teresa; Martín-Cuevas, Celia CSIC ORCID CVN; Delgado-García, José M.; Martínez Mir, Amalia CSIC ORCID | artículo |
| openAccess | | 5-jun-2008 | Significance of the SCN1A p.R1928G Change in Severe Myoclonic Epilepsy of Infancy | Carranza, Daniel; Martínez Mir, Amalia CSIC ORCID; Macaya Ruiz, A. | artículo |
| closedAccess | | 25-may-2001 | Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies | Paloma, Eva; Martínez Mir, Amalia CSIC ORCID; Vilageliu, L.; González-Duarte, Roser; Balcells, Susana | artículo |
| closedAccess | | 1997 | Strategies for the genetic analysis of autosomal recessive retinitis pigmentosa in Spanish families | González-Duarte, Roser; Bayés, Mónica; Martínez Mir, Amalia CSIC ORCID; Valverde, Diana; Balcells, Susana; Baiget, Montserrat; Vilageliu, L.; Grinberg, Daniel | capítulo de libro |
