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Letras Universidad de Sevilla

Ficha personal - Amalia Martínez Mir


Nota: El investigador no está asociado a ningún departamento de la Universidad de Sevilla pero es o ha sido becario o contratado durante este año.

Amalia Martínez Mir
Telefono: 954555988

Grupo de Investigación: Sinaptopatías y Neurogenética

Responsable de los siguientes proyectos/ayudas en la US:

  • Proyecto de investigación:
    • Mecanismos Sinápticos y Pérdida de Función de Gamma-Secretasa en la Enfermedad de Alzheimer (RTI2018-101886-B-I00)
    • Mecanismos Fisiopatológicos de la Ruta Sináptica de Neurexinas y Neuroliguinas en Enfermedades del Neurodesarrollo y Neurodegenerativas (BFU2015-71464-R)
    • Análisis genético de las convulsiones febriles y síndromes epilépticos relacionados (SAF2007-60508)

  • Ayuda a la investigación:
    • Complemento al proyecto de estudio de la base genética de las convulsiones febriles (SAF2006-27500-E)

Participa en los siguientes proyectos/ayudas en la US:

  • Proyecto de investigación:
    • European high-functioning austism network (PIM2010ERN-00700 - Investigador)
    • Estudios Genéticos en Neurología: Identificación de Genes Implicados en el Desarrollo de las Convulsiones Febriles y Formas Relacionadas de Epilepsia (P07-CVI-02790 - Investigador)
    • Regulación por Presenilinas de la Función Sináptica de Neurexinas. Implicaciones en la Enfermedad de Alzheimer (P07-CVI-02943 - Investigador)

  • Ayuda a la investigación:
    • Incentivo al Grupo de Investigación CTS-033 (2017/CTS-033 - Investigador)
    • Incentivo al Grupo de Investigación CTS-399 (2017/CTS-399 - Investigador)
    • Incentivo al Grupo de Investigación CTS-399 (2011/CTS-399 - Investigador)
    • Ayuda a la Consolidación del Grupo de Investigación CTS-399 (2008/CTS-399 - Investigador)
    • Ayuda a la Consolidación del Grupo de Investigación CTS-399 (2007/CTS-399 - Investigador)
    • Ayuda a la Consolidación del Grupo de Investigación CTS-399 (2006/CTS-399 - Contratado)

Cobertura de la base de datos de proyectos, véase aqui


Publicaciones:

Capítulos en Libros
Kiuru, Maija, Martínez Mir, Amalia, Christiano, Angela:
Basic Principles of Genetics. Vol. 2. En: Dermatology. 2012. ISBN 978-0-7234-3571-6

Martínez Mir, Amalia:
Epidemiología y Genética de las Convulsiones Febriles. Pag. 21-49. En: Origen y Consecuencias de las Convulsiones Febriles. Viguera Editores S. L. 2008

Martínez Mir, Amalia, Christiano, Angela M:
Basic Principles of Genetics. Vol. 1. Pag. 1-15. En: Dermatology. Ed. 2. London. Mosby, Inc. 2008. ISBN 978-1-4160-3269-4

Martínez Mir, Amalia, Christiano, Angela M:
Basic Principles of Genetics. Vol. 1. Pag. 729-743. En: Dermatology. Nueva York, Estados Unidos. Mosby, Inc. 2003. ISBN 0-323-02409-2

Publicaciones en Revistas
Carbonell Corvillo, Pilar, Tristán Clavijo, Enriqueta, Cabrera Serrano, Macarena, Servián Morilla, Emilia, García Martín, Guillermina, et. al.:
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. En: Neuromuscular Disorders. 2018. Vol. 28. Pag. 828-836. 10.1016/j.nmd.2018.07.006

Servián Morilla, Emilia, Robles Lanuza, Estefanía, Sánchez Hidalgo, Ana C., Camacho Garcia, Rafael Jesús, Páez Gómez, Juan Antonio, et. al.:
Proteolytic processing of neurexins by presenilins sustains synaptic vesicle release. En: The Journal of Neuroscience. 2018. Vol. 38. Núm. 4. Pag. 901-917. https://doi.org/10.1523/JNEUROSCI.1357-17.2017

Torrico, Barbara, Chiocchetti, Andreas G, Bacchelli, Elena, Trabetti, Elisabetta, Hervas, Amaia, et. al.:
Lack of replication of previous autism spectrum disorder GWAS hits in European populations. En: Autism Research : official Journal of the International Society for Autism Research. 2017. Vol. 10. Núm. 2. Pag. 202-211. 10.1002/aur.1662

Tristán Clavijo, Enriqueta, Gómez Scholl, Francisco Manuel, Macaya, Alfons, Iglesias, Gemma, Rojas, Ana M, et. al.:
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia. En: Movement disorders. 2016. Vol. 31. Núm. 11. Pag. 1743-1748. 10.1002/mds.26737

Mondéjar García, Rufino, Delgado García, Mercedes, Solano Manchego, Francisca, Izquierdo Ayuso, Guillermo, Martinez Mir, Amalia, et. al.:
Analysis of CCM1 expression uncovers novel minor-form exons and variable splicing patterns. En: Genes And Genomics (Seoul). 2016. Vol. 38. Núm. 9. Pag. 879-889. 10.1007/s13258-016-0435-1

Tristán Clavijo, Enriqueta, Camacho Garcia, Rafael Jesús, Robles Lanuza, Estefanía, Ruiz Laza, Agustin, Van der Zee, Julie, et. al.:
A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function. En: Neurobiology of Aging. 2015. Vol. 36. Pag. 3171-3175. 10.1016/j.neurobiolaging.2015.09.004

Abasolo, Nerea, Roig, Barbara, Martorell, Lourdes, Martinez Leal, Rafael, Aguilera, Francisco, et. al.:
Genetic study of NRXN1ß variants in Spanish patients with schizophrenia. En: Schizophrenia Research. 2014. Vol. 159. Núm. 2-3. Pag. 554-555. 10.1016/j.schres.2014.09.002

Furniss, Megan, Higgins, Claire A., Martínez Mir, Amalia, Horev, Liran, Petukhova, Lynn, et. al.:
Identification of distinct mutations in AAGAB in several families with type 1 punctate palmoplantar keratoderma. En: Journal of Investigative Dermatology. 2014. Vol. 134. Núm. 6. Pag. 1749-1752. 10.1038/jid.2014.4

Mondéjar García, Rufino, Rubio Rovira, Rocio, Solano Manchego, Francisca, Martínez Mir, Amalia, Lucas Lucas, Miguel:
Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis. 2014. Vol. 10. Núm. 1. Pag. 64-68. 10.3988/jcn.2014.10.1.64

Mondéjar García, Rufino, Solano Manchego, Francisca, Rubio Rovira, Rocio, Delgado García, Mercedes, Pérez Sempere, Ángel, et. al.:
Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients. En: PLoS ONE. 2014. Vol. 9. Núm. 1. doi: 10.1371/journal.pone.0086286

Mondéjar García, Rufino, Garcia Moreno, Jose Manuel, Rubio Rovira, Rocio, Solano Manchego, Francisca, Delgado García, Mercedes, et. al.:
Clinical and molecular study of extracellular matrix protein 1 gene in a Spanish family with Lipoid Protenosis. En: Journal of Clinical Neurology. 2014. Vol. 10. Núm. 1. Pag. 64-68. doi: 10.3988/jcn.2014.10.1.64

Camacho Garcia, Rafael Jesús, Hervás, Amaia, Toma, Claudio, Balmaña, Noemí, Cormand, Bru, et. al.:
Rare variants analysis of neurexin-1beta in autism reveals a novel start codon mutation affecting protein level at synapses. En: Psychiatric Genetics. 2013. Vol. 23. Núm. 6. Pag. 262-266. doi: 10.1097/YPG.0000000000000013

Martínez Mir, Amalia, Gonzalez Perez, Antonio, Gayan Guardiola, Francisco Javier, Antunez, C, Marín, J, et. al.:
Genetic study of neurexin and neuroligin genes in Alzheimer's disease. En: Journal of Alzheimers Disease. 2013. Vol. 35. Núm. 2. Pag. 403-412. doi: 10.3233/JAD-122257

Camacho Garcia, Rafael Jesús, Planelles, Inmaculada, Margalef, Mar, Pecero López, María Luisa, Martinez Leal, Rafael, et. al.:
Mutations affecting synaptic levels of neurexin-1 beta in autism and mental retardation. En: Neurobiology of Disease. 2012. Vol. 47. Núm. 1. Pag. 135-143. 10.1016/j.nbd.2012.03.031

Carranza Rojo,Daniel, Martínez Mir, Amalia, Macaya, Alfons:
Nota: Significance of the Scn1a P.r1928g Change in Severe Myoclonic Epilepsy of Infancy. En: Annals of Neurology. 2008

Petukhova, Lynn, Sousa Jr., Edilson C, Martínez Mir, Amalia, Vitebsky, Anna, Dos Santos, Lina G, et. al.:
Genome-Wide Linkage Analysis of an Autosomal Recessive Hypotrichosis Identifies a Novel P2ry5 Mutation. En: Genomics. 2008. Pag. 273-278

Poblete Gutierrez, P, Wiederholt, T, Martínez Mir, Amalia, Merk, H. F., Connor, Jm, et. al.:
Demystification of Chester Porphyria: a Nonsense Mutation in the Porphobilinogen Deaminase Gene. En: Physiological Research. 2007. Vol. 55. Pag. 137-144

Martínez Mir, Amalia, Zlotogorski, Abraham, Gordon, Derek, Petukhova, Lynn, Mo, J, et. al.:
Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata. En: American Journal of Human Genetics. 2007. Vol. 80. Núm. 2. Pag. 316-328

O'regan, G.M., Zurada, J, Martínez Mir, Amalia, Christiano, Angela M, Irvine, A.D.:
A Recurrent Splice-Site Mutation in the Human Hairless Gene Underlies Congenital Atrichia in Irish Families. En: British Journal of Dermatology. 2007. Vol. 156. Núm. 4. Pag. 744-747

Michailidis, E., Theos, A., Zlotogorski, Abraham, Martínez Mir, Amalia, Christiano, Angela M:
Atrichia With Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene. En: Pediatric Dermatology. 2007. Vol. 24. Núm. 5

Chuang, G. S., Martínez Mir, Amalia, Engler, D. E., Gmyrek, R. F., Zlotogorski, Abraham, et. al.:
Multiple Cutaneous and Uterine Leiomyomata Resulting from Missense Mutations in the Fumarate Hydratase Gene. En: Clinical and Experimental Dermatology. 2006. Vol. 31. Núm. 1. Pag. 118-121

Ashoor, G., Massé, M., García Luciano, L. M., Sheffer, R., Martínez Mir, Amalia, et. al.:
A Novel Mutation in the 12(R)-Lipoxygenase (Alox12b) Gene Underlies Non-Bullous Congenital Ichthyosiform Erythroderma. En: British Journal of Dermatology. 2006. Vol. 155. Núm. 1. Pag. 198-200

Ashoor, G, Greenstein, Rm, Lam, H, Martínez Mir, Amalia, Zlotogorski, a, et. al.:
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. En: Journal of Dermatological Science. 2005. Vol. 40. Núm. 1. Pag. 29-33

Martínez Mir, Amalia, Zlotogorski, Abraham, Christiano, Angela M:
Meeting-Abstract: Search for Susceptibility Genes in Alopecia Areata. En: The Journal of Investigative Dermatology Symposium Proceedings. 2005. Vol. 10. Núm. 3. Pag. 281-282

Paradisi, M, Massé, M., Martínez Mir, Amalia, Lam, H. M., Pedicelli, C., et. al.:
Identification of a Novel Splice Site Mutation in the Human Hairless Gene Underlying Atrichia With Papular Lesions. En: European Journal Of Dermatology. 2005. Vol. 15. Núm. 5. Pag. 332-338

Ashoor, G., Greenstein, R. M., Lam, H. M., Zlotogorski, Abraham, Martínez Mir, Amalia, et. al.:
A Novel Compound Heterozygous Mutation in the Hairless Gene Ausing Atrichia With Papular Lesions. En: Journal of Dermatological Science. 2005. Vol. 40. Núm. 1. Pag. 29-33

Massé, M., Cserhalmi Friedman, Peter, Falanga, V., Celebi, J. T., Martínez Mir, Amalia, et. al.:
Identification of Novel Type VII Collagen Mutations Resulting in Severe Recessive Dystrophic Epidermolysis Bullosa. En: Clinical and Experimental Dermatology. 2005. Vol. 30. Núm. 3. Pag. 289-293

Massé, M., Martínez Mir, Amalia, Lam, H. M., Geraghty, M. T., Christiano, Angela M:
Identification of a Recurrent Mutation in the Human Hairless Gene Underlying Atrichia With Papular Lesions. En: Clinical and Experimental Dermatology. 2005. Vol. 30. Núm. 4. Pag. 363-365

Chan, I., Wong, T., Martínez Mir, Amalia, Christiano, Angela M, Mcgrath, J. A.:
Familial Multiple Cutaneous and Uterine Leiomyomas Associated With Papillary Renal Cell Cancer. En: Clinical and Experimental Dermatology. 2005. Vol. 30. Núm. 1. Pag. 75-78

Nakabayashi, K., Amann, D., Ren, Y., Saarialho Kere, U., Avidan, N., et. al.:
Identification of C7orf11 (Ttdn1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy. En: American Journal of Human Genetics. 2005. Vol. 76. Núm. 3. Pag. 510-516

Bazzi, H, Martínez Mir, Amalia, Kljuic, a, Christiano, Angela M:
Meeting-Abstract: Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice and Rats. En: The Journal of Investigative Dermatology Symposium Proceedings. 2005. Vol. 10. Núm. 3. Pag. 222-224

Chuang, G. S., Martínez Mir, Amalia, Geyer, A., Engler, D. E., Glaser, B, et. al.:
Germline Fumarate Hydratase Mutations and Evidence for a Founder Mutation Underlying Multiple Cutaneous and Uterine Leiomyomata. En: Journal of the American Academy of Dermatology. 2005. Vol. 52. Núm. 3. Pag. 410-416

Adriani, M., Martínez Mir, Amalia, Fusco, F., Busiello, R., Frank, J., et. al.:
Ancestral Founder Mutation of the Nude (Foxn1) Gene in Congenital Severe Combined Immunodeficiency Associated With Alopecia in Southern Italy Population. En: Annals of Human Genetics. 2004. Vol. 68. Núm. Part. 3. Pag. 265-268

Chuang, G. S., Martínez Mir, Amalia, Yu, H. S., Sung, F. Y., Chuang, R. Y., et. al.:
A Novel Missense Mutation in the Col7a1 Gene Underlies Epidermolysis Bullosa Pruriginosa. En: Clinical and Experimental Dermatology. 2004. Vol. 29. Núm. 3. Pag. 304-307

Moss, C., Martínez Mir, Amalia, Lam, H. M., Tadin Strapps, Marija, Kljuic, a, et. al.:
Letters: A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis. En: Journal of Investigative Dermatology. 2004. Vol. 123. Núm. 3. Pag. 607-610

Horev, Liran, Waran Lalin, T, Martínez Mir, Amalia, Bagheri, B. A., Tadin Strapps, Marija, et. al.:
Identification of Mutations in the Col7a1 Gene in a Proband With Mild Recessive Dystrophic Epidermolysis Bullosa and Aortic Insufficiency. En: Clinical and Experimental Dermatology. 2003. Vol. 28. Núm. 1. Pag. 80-84

Kljuic, a, Gilead, a, Martínez Mir, Amalia, Frank, J., Christiano, Angela M, et. al.:
A Nonsense Mutation in the Desmoglein 1 Gene Underlies Striate Keratoderma. En: Experimental Dermatology. 2003. Vol. 12. Núm. 4. Pag. 523-527

Paller, A. S., Varigos, G., Metzker, A., Opie, J., Martínez Mir, Amalia, et. al.:
Letters: Compound Heterozygous Mutations in the Hairless Gene in Atrichia With Papular Lesions. En: Journal of Investigative Dermatology. 2003. Vol. 121. Núm. 2. Pag. 430-432

Martínez Mir, Amalia, Zlotogorski, Abraham, Ott, J., Gordon, Derek, Christiano, Angela M:
Meeting-Abstract: Genetic Linkage Studies in Alopecia Areata. En: The Journal of Investigative Dermatology Symposium Proceedings. 2003. Vol. 8. Núm. 2. Pag. 199-203

Hu, G, Yildirim, M., Baysal, V., Yerebakan, O., Yilmaz, E., et. al.:
A Recurrent Mutation in the Ars (Component B) Gene Encoding Slurp-1 in Turkish Families With Mal de Meleda: Evidence of a Founder Effect. En: Journal of Investigative Dermatology. 2003. Vol. 120. Núm. 6. Pag. 967-969

Kljuic, a, Bazzi, H, Sundberg, J. P., Martínez Mir, Amalia, O¿Shaugnessy, R., et. al.:
Desmoglein 4 is a Novel Desmosomal Cadherin With an Essential Role in Hair Follicle Keratinocyte Differentiation. En: Cell. 2003. Vol. 113. Núm. 2. Pag. 249-260

Tadin Strapps, Marija, Salas Alanis, J. C., Moreno, L, Warburton, D, Martínez Mir, Amalia, et. al.:
Congenital Universal Hypertrichosis With Deafness and Dental Anomalies Inherited As an X-Linked Trait. En: Clinical Genetics. 2003. Vol. 63. Núm. 5. Pag. 418-422

Horev, Liran, Djabali, K, Green, J, Sinclair, R, Martínez Mir, Amalia, et. al.:
De Novo Mutations in Monilethrix. En: Experimental Dermatology. 2003. Vol. 12. Núm. 6. Pag. 882-885

Albalat, Ricard, Permanyer, J, Cañestro, C, Martínez Mir, Amalia, Gonzàlez Angulo, Olga, et. al.:
The First Retrotransposon of the Non-Ltr Class from the Cephalochordate Amphioxus, Bfcr1, Shows Similarities to the Cr1-Like Elements. En: Cellular and Molecular Life Sciences. 2003. Vol. 60. Núm. 4. Pag. 803-809

Zlotogorski, Abraham, Hochberg, Z., Mirmirani, P., Metzker, A., Ben Amitai, D., et. al.:
Clinical and Pathological Correlations in Genetically Distinct Forms of Atrichia. En: Archives of Dermatology. 2003. Vol. 139. Núm. 12. Pag. 1591-1596

Paradisi, M, Chuang, G. S., Angelo, C., Pedicelli, C., Martínez Mir, Amalia, et. al.:
Atrichia With Papular Lesions Resulting from a Novel Homozygous Missense Mutation in the Hairless Gene. En: Clinical and Experimental Dermatology. 2003. Vol. 28. Núm. 5. Pag. 535-538

Martínez Mir, Amalia, Glaser, B, Chuang, G, Horev, Liran, Waldman, a, et. al.:
Germline Fumarate Hydratase Mutations in Families With Multiple Cutaneous and Uterine Leiomyomata. En: Journal of Investigative Dermatology. 2003. Vol. 121. Núm. 4. Pag. 741-744

Martínez Mir, Amalia, Zlotogorski, Abraham, Londono, D, Gordon, Derek, Grunn, a, et. al.:
Identification of a Locus for Type I Punctate Palmoplantar Keratoderma on Chromosome 15q22-Q23. 2003. Vol. 40. Núm. 12. Pag. 872-878

Martínez Mir, Amalia, Gordon, Derek, Horev, Liran, Klapholz, L, Ott, J., et. al.:
Multiple Cutaneous and Uterine Leiomyomata: Refinement of the Mcul1 Locus on Chromosome 1q42.3-43. En: Journal of Investigative Dermatology. 2002. Vol. 118. Núm. 5. Pag. 876-880

Henn, W, Zlotogorski, Abraham, Lam, H. M., Martínez Mir, Amalia, Zaun, H, et. al.:
Atrichia With Papular Lesions Resulting from Compound Heterozygous Mutations in the Hairless Gene: a Lesson for Differential Diagnosis of Alopecia Universalis. En: Journal of the American Academy of Dermatology. 2002. Vol. 47. Núm. 4. Pag. 519-523

Paloma, Eva, Martínez Mir, Amalia, Garcia Sandoval, B., Ayuso, C., Vilageliu, Ll, et. al.:
Novel Homozygous Mutation in the Alpha Subunit of the Rod Cgmp-Gated Channel (Cnga1) in Two Spanish Sibs Affected of Autosomal Recessive Retinitis Pigmentosa. 2002. Vol. 39. Núm. 10(E66). Pag. 1-4

Zlotogorski, Abraham, Martínez Mir, Amalia, Green, J, Lam, H. M., Panteleyev, A. A., et. al.:
Evidence for Pseudodominant Inheritance of Atrichia With Papular Lesions. En: Journal of Investigative Dermatology. 2002. Vol. 118. Núm. 5. Pag. 881-886

Paloma, Eva, Coco, R, Martínez Mir, Amalia, Vilageliu, Ll, Balcells, S, et. al.:
Analysis of Abca4 in Mixed Spanish Families Segregating Different Retinal Dystrophies. En: Human Mutation. 2002. Vol. 20. Núm. 6. Pag. 476-476

Djabali, K, Martínez Mir, Amalia, Horev, Liran, Klapholz, L, Glaser, B, et. al.:
Letters: Evidence for Extensive Locus Heterogeneity in Naxos Disease. En: Journal of Investigative Dermatology. 2002. Vol. 118. Núm. 3. Pag. 557-560

Martínez Mir, Amalia, Liu, J., Gordon, Derek, Weiner, M. S., Ahmad, Wasim, et. al.:
Letters: Eb Simplex Superficialis Resulting from a Mutation in the Type VII Collagen Gene. En: Journal of Investigative Dermatology. 2002. Vol. 118. Núm. 3. Pag. 547-549

Martínez Mir, Amalia, Cañestro, C, Gonzalez Duarte, Roser, Albalat, Ricard:
Characterization of the Amphioxus Presenilin Gene in a High Gene-Density Genomic Region Illustrates Duplication During the Vertebrate Lineage. En: Gene. 2001. Vol. 279. Núm. 2. Pag. 157-164

Cserhalmi Friedman, Peter, Garzon, M. C., Guzman, e, Martínez Mir, Amalia, Chung, W. K., et. al.:
Letters: Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa. En: Journal of Investigative Dermatology. 2001. Vol. 117. Núm. 5. Pag. 1327-1328

Paloma, Eva, Martínez Mir, Amalia, Vilageliu, Ll, Gonzalez Duarte, Roser, Balcells, S:
Spectrum of Abca4 (Abcr) Gene Mutations in Spanish Patients With Autosomal Recessive Macular Dystrophies. En: Human Mutation. 2001. Vol. 17. Núm. 6. Pag. 504-510

Martínez Mir, Amalia, Paloma, Eva, Balcells, S, Vilageliu, Ll, Pittler, S. J., et. al.:
Meeting-Abstract: Genetic Mapping and Evaluation of Pde6a in 49 Spanish Families With Autosomal Recessive Retinitis Pigmentosa. En: Retinal Degenerative Diseases and Experimental Therapy. 1999. Pag. 201-213

Martínez Mir, Amalia, Paloma, Eva, Allikmets, Rando, Ayuso, C., Del Rio, Teresa, et. al.:
Letters: Retinitis Pigmentosa Caused by a Homozygous Inactivating Mutation in the Stargardt Disease Gene Abcr. En: Nature Genetics. 1998. Vol. 18. Núm. 1. Pag. 11-12

Bayes, Monica, Goldaracena, B, Martínez Mir, Amalia, Iragui Madoz, M. I., Solans, T, et. al.:
A New Autosomal Recessive Retinitis Pigmentosa Locus Maps on Chromosome 2q31-Q33. En: Journal of Medical Genetics. 1998. Vol. 35. Núm. 2. Pag. 141-145

Gonzalez Duarte, R, Bayes, Monica, Martínez Mir, Amalia, Valverde, D, Baiget, M., et. al.:
Meeting-Abstract: Strategies for the Genetic Analysis of Autosomal Recessive Retinitis Pigmentosa in Spanish Families. En: Degenerative Retinal Diseases. 1997. Pag. 263-275

Martínez Mir, Amalia, Vilela, C., Bayes, Monica, Valverde, Diana, Dain, L, et. al.:
Putative Association of a Mutant Rom1 Allele With Retinitis Pigmentosa. En: Human Genetics. 1997. Vol. 99. Núm. 6. Pag. 827-830

Martínez Mir, Amalia, Bayes, Monica, Vilageliu, Ll, Grinberg, Daniel, Ayuso, C., et. al.:
A New Locus for Autosomal Recessive Retinitis Pigmentosa Maps to 1p13-1p21. En: Genomics. 1997. Vol. 40. Núm. 1. Pag. 142-146

Valverde, D, Baiget, M, Seminago, R, Del Rio, e, Garcia Sandoval, T, et. al.:
Nota: Identification of a Novel Arg552gln Mutation in Exon 13 of the B-Subunit of Rod Phosphodiesterase Gene in a Spanish Family With Autosomal Recessive Retinitis Pigmentosa. En: Human Mutation. 1996. Vol. 8. Núm. 4. Pag. 393-394

Bayes, Monica, Martínez Mir, Amalia, Valverde, D, Del Rio, E., Vilageliu, Ll, et. al.:
Autosomal Recessive Retinitis Pigmentosa in Spain: Evaluation of 4 Genes and 2 Loci Involved in the Disease. En: Clinical Genetics. 1996. Vol. 50. Núm. 5. Pag. 380-387

Aportaciones a Congresos
Sánchez Hidalgo, Ana C., Martín, Celia, Arias, Francisco, Robles Lanuza, Estefanía, Martínez Mir, Amalia, et. al.:
Role of Neurexins in the synaptic and behavioral deficits caused by loss of presenilin function in Alzheimer's disease. Poster en Congreso. 18º Congreso Nacional de la Sociedad Española de Neurociencia. Santiago de Compostela. 2019

Arias, Francisco, Robles Lanuza, Estefanía, Tristán Clavijo, Enriqueta, Martín, Celia, Sánchez Hidalgo, Ana C., et. al.:
Loss of Neuroliguin-1 function in Alzheimer's Disease. Poster en Congreso. 18º Congreso Nacional de la Sociedad Española de Neurociencia. Santiago de Compostela. 2019

Robles Lanuza, Estefanía, García Rabaneda, Luis Emilio, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
Animal models of autism: Reversion of Autism-Associated Behavior in Mice Deficient in Beta-Neurexin-1 Function. Ponencia en Congreso. 1ª Encuentro AETAPI sobre investigación en TEA. FACULTAD DE PSICOLOGIA. Universidad de Sevilla. 2018

Camacho Garcia, Rafael Jesús, Tristán Clavijo, Enriqueta, Vilella Cuadrada, Elisabet, Hervás, Amaia, Martínez Mir, Amalia, et. al.:
Genetic hits in synaptic genes in autism. Ponencia en Congreso. 1ª Encuentro AETAPI sobre investigación en TEA. FACULTAD DE PSICOLOGIA. Universidad de Sevilla. 2018

Sánchez Hidalgo, Ana C., Robles Lanuza, Estefanía, Servián Morilla, Emilia, Camacho Garcia, Rafael Jesús, Martínez Mir, Amalia, et. al.:
Accumulation of the presenilin substrate Neurexin-CTF results in behavioral deficits, neuronal loss and early mortality in transgenic mice. Poster en Congreso. 17th Congress of SENC. Alicante. 2017

Sánchez Hidalgo, Ana C., Robles Lanuza, Estefanía, Servián Morilla, Emilia, Camacho Garcia, Rafael Jesús, Martínez Mir, Amalia, et. al.:
Synaptic Circuits Associated With Social Interaction Are Affected in an Autism Mouse Model Expressing a Neurexin-1 Beta Mutant. Poster en Congreso. International Workshop in BioMedicine: Synapse formation, specification and elimination: from molecules to circuits. - Baeza (Jaén), España. 2017

Robles Lanuza, Estefanía, Da Rocha Almeida, Florbela, Martínez Mir, Amalia, Delgado Garcia, Jose Maria, Gruart Masso, Agnes, et. al.:
Synaptic Circuits Associated With Social Interaction Are Affected in an Autism Mouse Model. Poster en Congreso. 17 National Congress of the Spanish Society of Neuroscience. Alicante. 2017

Camacho Garcia, Rafael Jesús, Tristán Clavijo, Enriqueta, Vilella Cuadrada, Elisabet, Hervás, Amaia, Martínez Mir, Amalia, et. al.:
Second genetic hits in synaptic adhesion proteins in autism. Poster en Jornada. Synapse Formation, Specification and Elimination: from Molecules to Circuits. - Baeza (Jaén), España. 2017

Sánchez Hidalgo, Ana C., Robles Lanuza, Estefanía, Servián Morilla, Emilia, Camacho Garcia, Rafael Jesús, Martínez Mir, Amalia, et. al.:
Behavioral deficits, hippocampal neuronal loss and early mortality in transgenic mice expressing the presenilin substrate neurexin-CTF. Poster en Jornada. Workshop "Synapse formation, specification and elimination: from molecules to circuits". Baeza. 2017

Martínez Mir, Amalia:
Aproximaciones genéticas actuales para el estudio del autismo y la enfermdad de Alzheimer. Conferencias impartidas en Congreso. Sesiones de Neurociencias del Hospital Universitario Virgen Macarena. Sevilla. 2017

Martínez Mir, Amalia:
¿Cuántas mutaciones son necesarias para desarrollar una enfermedad del cerebro?. Conferencias impartidas en Congreso. XIV Curso Nacional de Neurociencia. Carmona, Sevilla. 2016

Gómez Scholl, Francisco Manuel, Tristán Clavijo, Enriqueta, Robles Lanuza, Estefanía, Hernández, Isabel, Ruiz Laza, Agustin, et. al.:
Neurexin-neuroligin in Alzheimer's disease. Generation of a knockin mouse model for the frameshift mutation neuroligin-1 T271fs. Poster en Congreso. Synaptic function and dysfunction in brain diseases. Coimbra, Portugal. 2016

Robles Lanuza, Estefanía, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
Molecular Mechanisms for the Onset and Reversion of Autism-Associated Symptoms in Mutant Beta-Neurexin-1 Mouse Model. Poster en Congreso. 10th FENS Forum of Neuroscience. Copenhague, Dinamarca. 2016

Carbonell Corvillo, Pilar, Servián Morilla, Emilia, Tristán Clavijo, Enriqueta, Gil Gálvez, A., García Martín, Guillermina, et. al.:
A novel MYH7 mutation causing the Laing distal myopathy in Andalucia. Poster en Congreso. 21st International WMS Congress. Granada, España. 2016

Gómez Scholl, Francisco Manuel, Tristán Clavijo, Enriqueta, Robles Lanuza, Estefanía, Martínez Mir, Amalia:
Generation and characterization of Alzheimer-associated neuroligin-1 T271fs knockin mice. Poster en Congreso. 10th FENS Neuroscience Forum. Copenhagen, Denmark. 2016

Robles Lanuza, Estefanía, Da Rocha Almeida, Florbela, Martínez Mir, Amalia, Delgado Garcia, Jose Maria, Gruart Masso, Agnes, et. al.:
Onset and Reversion of Autism-Associated Symptoms in Mutant Beta-Neurexin-1 Mouse Model. Poster en Congreso. 7th ISN Special Conference of Neurochemistry. COIMBRA, PORTUGAL, Portugal. 2016

Carbonell Corvillo, Pilar, García Martín, Guillermina, Villarreal Pérez, Liliana, Rivas Infante, Eloy, Márquez Infante, Celedonio, et. al.:
Nueva mutación del gen MYH7 causante de la miopatía distal de Laing en Andalucía. Poster en Congreso. LXVII Reunión Anual de la Sociedad Española de Neurología. Valencia. 2015

Tristán Clavijo, Enriqueta, Gómez Scholl, Francisco Manuel, Iglesias, Gemma, Macaya, Alfons, Martínez Mir, Amalia, et. al.:
Mutation p.Arg324Thr in the KCNA1 gene alters Kv1.1 channel function in a family with episodic ataxia. Poster en Congreso. RECI V - 5th Spanish Ion Channel Network Meeting. Barcelona, España. 2015

Martínez Mir, Amalia:
Sesión plenaria "Aproximaciones genéticas para el estudio de enfermedades mentales". Conferencias impartidas en Congreso. XL Congreso de la Sociedad Española de Genética. Córdoba, España. 2015

Tristán Clavijo, Enriqueta, Camacho Garcia, Rafael Jesús, Robles Lanuza, Estefanía, Ruiz Laza, Agustin, Hernández, Isabel, et. al.:
Identification of causative and susceptibility variants in the neurexin-neuroligin pathway in patients with Alzheimer's disease. The role of a truncating mutation in Neuroligin 1. Poster en Congreso. 16 National Congress of the Spanish Society of Neuroscience. Granada, España. 2015

García Rabaneda, Luis Emilio, Robles Lanuza, Estefanía, Páez Gómez, Juan Antonio, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
Autistic-like behavior in a mouse model with impaired ß-neurexin-1 function. Poster en Congreso. XV Congreso Nacional de la Sociedad Española de NeuroCiencia. Oviedo. 2013

García Rabaneda, Luis Emilio, Robles Lanuza, Estefanía, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
"Molecular and behavioral characterization of transgenic mice with impaired beta-neurexin-1 function as a mouse model of autism". Poster en Congreso. Membrane Traffic at the Synapse. The Cell Biology of Synaptic Plasticity. Workshops "Current Trends in Biomedicina. Baeza . Jaén. 2013

Servián Morilla, Emilia, Camacho Garcia, Rafael Jesús, Robles Lanuza, Estefanía, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
The inactivation of Presenilin activity affects vesicle release at neurexin-neuroligin synapsis by abnormal processing of neurexins. Poster en Congreso. Workshop on "Membrane traffic at the synapse. The cell biology of synaptic plasticity. 2013

Ruiz Laza, Agustin, Martínez Mir, Amalia, Gonzalez Perez, Antonio, Gayan Guardiola, Francisco Javier, Antúnez, Carmen, et. al.:
Neurexin and neuroligin genes in Alzheimer's disease. Poster en Congreso. The 11th International Conference on Alzheimer¿s & Parkinson¿s Diseases. Firenze, Florencia (Italia). 2013

García Rabaneda, Luis Emilio, Robles Lanuza, Estefanía, Pecero López, María Luisa, Páez Gómez, Juan Antonio, Martínez Mir, Amalia, et. al.:
Generation of a transgenic mouse model to inhibit the function of beta-neurexin-1, a gene involved in autism spectrum disorders. Poster en Congreso. The International Meeting for Autism Research (IMFAR). Donostia - San Sebastián. 2013

Servián Morilla, Emilia, Saura Antolin, Carlos Alberto, Martínez Mir, Amalia, Páez Gómez, Juan Antonio, Gómez Scholl, Francisco Manuel:
Presenilins regulate neurotransmitter release at neurexin synapses. Poster en Congreso. First EUSynapse Alumni Meeting. 2012

Camacho Garcia, Rafael Jesús, Planelles, Inma, Margalef, Mar, Pecero López, María Luisa, Martinez Leal, Rafael, et. al.:
Identification of four mutations in neurexin-1ß in patients with autism and mental retardation and their effect in synaptic levels. Poster en Congreso. First EUSynapse Alumni Meeting. 2012

Tristán Clavijo, Enriqueta, Castellano Orozco, Antonio Gonzalo, Cuenca, Ester, Iglesias Escalera, Gema, Macaya, Alfons, et. al.:
Mutation p.Arg324Thr in the KCNA1 gene alters the biophysical properties of Kv1.1 in a family with episodic ataxia type I. Poster en Congreso. First EUSynapse Alumni Meeting. 2012

Martínez Mir, Amalia:
"Genética en psiquiatría". Curso de Metodologia de la Invesigacion en Salud Mental. UGC-Salud Mental. Hospital Universitario Virgen del Rocío. Sevilla. Ponencia en Curso. Curso de Metodologia de la Invesigacion en Salud Mental. 2012

Servián Morilla, Emilia, Saura Antolin, Carlos Alberto, Martínez Mir, Amalia, Páez Gómez, Juan Antonio, Gómez Scholl, Francisco Manuel:
Presenilins regulate neurotransmitter release at neurexin synaspes. Poster en Congreso. First EU SYNAPSE alumni meeting. 2012

Servián Morilla, Emilia, Saura Antolin, Carlos Alberto, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
Presenilin function is required to maintain neurotransmitter release at neurexin synapses. Poster en Congreso. 8th FENS Forum of Neuroscience, Barcelona 2012. . Barcelona, España. 2012

Camacho Garcia, Rafael Jesús, Planelles, Inmaculada, Margalef, Mar, Pecero López, María Luisa, Martinez Leal, Rafael, et. al.:
Reduced neurexin-1ß synaptic levels as a risk factor in autism: Identification of mutations in neurexin-1ß in patients with autism and mental retardation. Poster en Congreso. I International Symposium on Cell and Gene-Based Therapies. 2012

Martínez Mir, Amalia:
Estrategias para la identificación de genes en trastornos del comportamiento humano. Conferencias impartidas en Curso. Genética del Comportamiento, de los másteres de Iinvestigación Biomédica Traslacional y Biotecnología Molecular, Celular y Genética. Córdoba. 2011

Servián Morilla, Emilia, Saura Antolin, Carlos Alberto, Páez Gómez, Juan Antonio, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
"Procesamiento Sináptico De Neurexinas Por Presenilinas. Implicaciones En La Enfermedad De Alzheimer". Poster en Congreso. XIV Congreso de la Sociedad Española de Neurociencias. Salamanca, España. 2011

Margalef, Mar, Camacho Garcia, Rafael Jesús, Planelles, Inmaculada, Orejuela, Carmen, Martinez Leal, Rafael, et. al.:
CLINICAL DESCRIPTION OF FOUR CASES OF AUTISM AND PROFOUND INTELLECTUAL DISABILITY WITH NOVEL TRANSLATION INITIATION AND MISSENSE MUTATIONS IN THE SYNAPTIC GENE NRXN1beta. Poster en Congreso. European Congress of Mental Health in Intellectual Disability. Manchester, UK. 2011

Servián Morilla, Emilia, Saura Antolin, Carlos Alberto, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
Regulation of Neurexin Processing At Synapses by Alzheimer's Disease-Associated Presenilins. Poster en Congreso. 8th IBRO World Congress of Neuroscience. Florencia. Italia. 2011

Camacho Garcia, Rafael Jesús, Planelles, Inmaculada, Margalef, Mar, Pecero López, María Luisa, Martinez Leal, Rafael, et. al.:
Autism-Associated Mutations in Neurexin-1beta Affect Translation Initiation and Synaptic Protein Levels. Poster en Congreso. 8th IBRO World Congress of Neuroscience. Florencia. Italia. 2011

Martínez Mir, Amalia:
Conferencia Invitada "el Autismo Como Sinaptopatía: Análisis Genético de Neurexina". Conferencia en Jornada no publicada. Máster Universitario Oficial en Salud Mental: Investigación en Psiquiatría, Neurotoxicología y Psicofarmacología de la Universidad Rovira i Virgili. Tarragona. 2010

Tristán Clavijo, Enriqueta, Cuenca León, Ester, Iglesias Escalera,Gema, Macaya, Alfons, Martínez Mir, Amalia:
Identificación de las Bases Genéticas de la Discinesia Paróxística. Poster en Congreso. IX Jornadas Andaluzas Salud Investiga. Cadiz, España. 2010

Camacho Garcia, Rafael Jesús, Pecero López, María Luisa, Servián Morilla, Emilia, Martínez Mir, Amalia, Gómez Scholl, Francisco Manuel:
Papel de la Proteína de Adhesión Sináptica Neurexina 1 en Autismo. Ponencia en Congreso. IX Jornadas Andaluzas Salud Investiga. Cadiz, España. 2010. Actas de las IX Jornadas Andaluzas Salud Investiga. 63. 63

Tristán Clavijo, Enriqueta, Camacho Garcia, Rafael Jesús, Meléndez Cadenas, Ricardo José, Martínez Mir, Amalia:
Identificación de la Base Genética de Enfermedades Neurológicas y Mentales. Poster en Congreso. VII Foro de Investigadores de Hhuu Virgen del Rocío. II Claustro del Instituto de Biomedicina de Sevilla-Ibis. 2009

Camacho Garcia, Rafael Jesús, Margalef, Mar, Planelles, Inma, Meléndez Cadenas, Ricardo José, Vilella Cuadrada, Elisabet, et. al.:
Estudio Genético y Funcional de Neurexina 1 en Autismo y Retraso Mental. Poster en Congreso. XXXVII Congreso Nacional de Genética. Málaga, España. 2009

Tristán Clavijo, Enriqueta, Carranza Rojo,Daniel, Camacho Garcia, Rafael Jesús, Meléndez Cadenas, Ricardo José, Madruga Garrido, Marcos, et. al.:
Análisis Mutacional del Gen Scn1a. Poster en Congreso. XXV Congreso Nacional de Genética Humana. Santiago de Compostela, España. 2009

Camacho Garcia, Rafael Jesús, Quesada, M, Florea, Diana, Meléndez Cadenas, Ricardo José, Escobar Delgado, Teresa, et. al.:
Heterogeneidad Genética en la Epilepsia Nocturna de Lóbulo Frontal Autosómica Dominante (Adnfle). Poster en Congreso. XXV Congreso Nacional de Genética Humana. Santiago de Compostela, España. 2009

Martínez Mir, Amalia:
"Mutaciones en los genes de neurexinas y neuroliguinas en autismo". Conferencia invitada. Sanatori Villablanca, Hospital Psiquiàtric, Universitat Rovira i Virgili, Reus. Marzo 2008. Conferencias impartidas en Congreso. 2008

Gómez Scholl, Francisco Manuel, Martínez Mir, Amalia:
Conferencia Invitada "Mutaciones en los Genes de Neurexinas y Neuroliguinas en Autismo". Conferencia en Jornada no publicada. Sanatori Villablanca, Hospital Psiquiàtric, Universitat Rovira i Virgili. Advanced Wastewater Treatment Recycling and Reuse. 2008

Petukhova, Lynn, Sousa Jr., Edilson C, Martínez Mir, Amalia, Vitebsky, Anna, Dos Santos, Lina G, et. al.:
Genome-Wide Linkage Analysis of an Autosomal Recessive Alopecia Identifies a Novel P2ry5 Mutation. Poster en Congreso. 58th Annual Meeting of The American Society of Human Genetics. Philadelphia, PA, USA. 2008

Páez Gómez, Juan Antonio, Camacho Garcia, Rafael Jesús, Planelles, Inmaculada, Margalef, Mar, Vilella Cuadrada, Elisabet, et. al.:
Functional and Genetic Analysis of Neurexin-1, a Gene Associated With Autism. Poster en Congreso. Days of Molecular Medicine 2008. Cognitive Dysfunction in Disease: Mechanisms and Therapie. Estocolmo, Suecia. 2008

Camacho Garcia, Rafael Jesús, Florea, Diana, Escobar Delgado, Teresa, Macaya, Alfons, Lucas, Miguel, et. al.:
Genetic Analysis of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (Adnfle). Poster en Congreso. 40th European Human Genetics Conference. Barcelona, España. 2008. European Journal of Human Genetics. 310. P06.098

Petukhova, Lynn, Zlotogorski, Abraham, Martínez Mir, Amalia, Gordon, Derek, Mo, J, et. al.:
Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata. Ponencia en Congreso. 68th Annual Meeting of the Society for Investigative Dermatology. Los Angeles, CA, USA. 2007. Journal of Investigative Dermatology. P89. A532

Martínez Mir, Amalia:
Estudio de las bases genéticas de las convulsiones febriles. Conferencias impartidas en Seminario. Servicio de Pediatría, Hospital Universitario Virgen Macarena. Sevilla. 2006

Mo, J, Zlotogorski, Abraham, Martínez Mir, Amalia, Duvic, M, Hordinsky, M, et. al.:
A Genome-Wide Scan Maps a First Susceptibility Locus for Alopecia Areata to Human Chromosome 6q24. Ponencia en Congreso. 67th Annual Meeting of the Society for Investigative Dermatology. Philadelphia, PA, USA. 2006. Journal of Investigative Dermatology. P103. A616

Massé, M., Ashoor, G., Michailidis, E., Greenstein, R. M., Paradisi, M, et. al.:
Identification of Five Novel Hairless Mutations Underlying Atrichia With Papular Lesions. Poster en Congreso. 66th Annual Meeting of the Society for Investigative Dermatology. St. Louis, MI, USA. 2005. Journal of Investigative Dermatology. P104. A623

Zlotogorski, Abraham, Massé, M., Ashoor, G., García Luciano, L. M., Anyane Yeboa, K, et. al.:
A Missense Mutation in 12(R)-Lipoxygenase Underlies Non-Bullous Congenital Ichthyosiform Erythroderma. Poster en Congreso. 66th Annual Meeting of the Society for Investigative Dermatology. St. Louis, MI, USA. 2005. Journal of Investigative Dermatology. P85. A505

Zlotogorski, Abraham, Hochberg, Z, Mirmirani, P, Metzker, a, Ben Amitai, D, et. al.:
Clinical and Pathological Correlations in Genetically Distinct Forms of Atrichia. Poster en Congreso. 4th Intercontinental Meeting of Hair Research Societies. Berlín, Alemania. 2004

Nakabayashi, K., Amann, D., Avidan, N., Ren, Y., Kere, U, et. al.:
Identification of the Gene Mutated in Amish Brittle Hair (Hair Brain) Syndrome. Comunicación en congreso. 54th Annual Meeting of The American Society of Human Genetics. Toronto, Ontario, Canadá. 2004

Martínez Mir, Amalia, Zlotogorski, Abraham, Londono, D, Gordon, Derek, Grunn, a, et. al.:
Type I Punctate Palmoplantar Keratoderma: Identification and Refinement of a Locus for on Chromosome 15q22-24 and Evidence for Genetic Heterogeneity. Ponencia en Congreso. 54th Annual Meeting of The American Society of Human Genetics. Toronto, Ontario, Canadá. 2004

Martínez Mir, Amalia, Moss, C., Kljuic, a, Christiano, Angela M:
Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Rats and Mice. Ponencia en Congreso. 4th Intercontinental Meeting of Hair Research Societies. Berlín, Alemania. 2004

Martínez Mir, Amalia, Chuang, G. S., Horev, Liran, Glaser, B, Geyer, A., et. al.:
Multiple Cutaneous and Uterine Leiomyomata: Identification of Germline Fumarate Hydratase Mutations and Evidence for a Founder Splicing Mutation. Poster en Congreso. 65th Annual Meeting of the Society for Investigative Dermatology. Providence, RI, USA. 2004. Journal of Investigative Dermatology. P26. A153

Panteleyev, A. A., Geng, S., Zhang, M. J., Martínez Mir, Amalia, Tadin Strapps, Marija, et. al.:
Genetic and Phenotypic Analysis of the Near Naked (Hrn) Phenotype in Mice. Poster en Congreso. 65th Annual Meeting of the Society for Investigative Dermatology. Providence, RI, USA. 2004. Journal of Investigative Dermatology. P113. A673

Lam, H. M., Martínez Mir, Amalia, Zlotogorski, Abraham, Geraghty, M. T., Christiano, Angela M:
Identification of a Recurrent Frameshift Mutation in the Hairless Gene in a Patient With Atrichia With Papular Lesions. Poster en Congreso. 65th Annual Meeting of the Society for Investigative Dermatology. Providence, RI, USA. 2004. Journal of Investigative Dermatology. P90. A535

Massé, M., Cserhalmi Friedman, Peter, Falanga, V., Celebi, J. T., Martínez Mir, Amalia, et. al.:
Compound Heterozigosity for Mutations in Type VII Collagen Gene (Col7a1) Results in Severe Dystrophic Epidermolysis Bullosa. Poster en Congreso. 65th Annual Meeting of the Society for Investigative Dermatology. Providence, RI, USA. 2004. Journal of Investigative Dermatology. P38. A228

Martínez Mir, Amalia, Zlotogorski, Abraham, Londono, D, Gordon, Derek, Grunn, a, et. al.:
Identification and Refinement of a Locus for Type I Punctate Palmoplantar Keratoderma on Chromosome 15q22-24. Poster en Congreso. 65th Annual Meeting of the Society for Investigative Dermatology. Providence, RI, USA. 2004. Journal of Investigative Dermatology. P78. A463

Kljuic, a, Bazzi, H, Martínez Mir, Amalia, Christiano, Angela M:
A Novel Human Desmosomal Cadherin Gene Family Member, Desmoglein 4. Ponencia en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A290. A290

Lam, H. M., Zlotogorski, Abraham, Hochberg, Z., Mirmirani, P., Metzker, A., et. al.:
Clinical and Pathological Correlations in Genetically Distinct Forms of Atrichia. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A626. A626

Chuang, G. S., Zlotogorski, Abraham, Glaser, B, Horev, Liran, Waldman, a, et. al.:
Germline Fumarate Hydratase Mutations in Families With Multiple Cutaneous and Uterine Leiomyomata. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A599. A599

Kim, H, Zlotogorski, Abraham, Varigos, G., Metzker, A., Opie, J., et. al.:
Atrichia With Papular Lesions in a Series of Non-Consanguineous Families Defined by Mutations in the Hairless Gene. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A437. A437

Paradisi, M, Chuang, G. S., Angelo, C., Pedicelli, C., Martínez Mir, Amalia, et. al.:
Atrichia With Papular Lesions Resulting from a Novel Homozygous Missense Mutation in the Hairless Gene. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A443. A443

Kljuic, a, Sundberg, J. P., Bazzi, H, Martínez Mir, Amalia, O¿Shaugnessy, R., et. al.:
Desmoglein 4 is a Novel Desmosomal Cadherin With an Essential Role in Hair Follicle Keratinocyte Differentiation. Ponencia en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A844. A844

Martínez Mir, Amalia, Londono, D, Gordon, Derek, Grunn, a, Uribe, e, et. al.:
Identification of a Locus for Type I Punctate Palmoplantar Keratoderma on Chromosome 15q22-23. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A624. A624

Bazzi, H, Kljuic, a, Kim, H, Martínez Mir, Amalia, Christiano, Angela M:
Dsg1c is a Novel Member of the Mouse Desmosomal Cadherin Cluster. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A288. A288

Horev, Liran, Djabali, K, Green, J, Sinclair, R., Martínez Mir, Amalia, et. al.:
De Novo Mutatations in Monilethrix. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A609. A609

Zlotogorski, Abraham, Chuang, G. S., Horev, Liran, Brenner, S, Landau, M., et. al.:
Evidence for a Founder Mutation in the Fumarate Hydratase Gene in Patients With Multiple Cutaneous and Uterine Leiomyomata from Iran. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A435. A435

Bauer, R. C., Bazzi, H, Lam, H. M., Martínez Mir, Amalia, Christiano, Angela M:
The Mouse Desmosomal Cadherin Gene Cluster Contains a Novel Family Member, Desmoglein 4. Poster en Congreso. International Investigative Dermatology 2003. Miami Beach, FL, USA. 2003. Journal of Investigative Dermatology. A276. A276

Chuang, G. S., Martínez Mir, Amalia, Horev, Liran, Glaser, B, Geyer, A., et. al.:
Germline Fumarate Hydratase Mutations and Evidence for a Founder Mutation Underlying Multiple Cutaneous and Uterine Leiomyomata. Poster en Congreso. The 53rd Annual Meeting of The American Society of Human Genetics. Los Angeles, CA, USA. 2003. American Journal of Human Genetics. P577. A2401

Martínez Mir, Amalia, Zlotogorski, Abraham, Londono, D, Gordon, Derek, Grunn, a, et. al.:
Identification of a Locus for Type I Punctate Palmoplantar Keratoderma on Chromosome 15q22-24. Poster en Congreso. The 53rd Annual Meeting of The American Society of Human Genetics. Los Angeles, CA, USA. 2003. Americanjournal of Human Genetics. P570. A2357

Christiano, Angela M, Martínez Mir, Amalia, Londono, D, Ott, J., Gordon, Derek, et. al.:
Genome-Wide Search for Aa Susceptibility Genes. Ponencia en Congreso. Fourth International Research Workshop on Alopecia Areata (National Institue of Arthritis and Musculoskeletal and Skin Diseases [NIAMS] y NAAF). Washington, DC, USA. 2002

Martínez Mir, Amalia, Christiano, Angela M, Frank, J., Telese, S., Adriani, M., et. al.:
Evidence for a Whn/Nude/Scid Founder Mutation in a Population of a Small Village of Southern Italy. Comunicación en congreso. 10th Meeting of the European Society for Immunodeficiencies (ESID). Weimar, Alemania. 2002

Martínez Mir, Amalia, Gordon, Derek, Horev, Liran, Panteleyev, A. A., Ott, J., et. al.:
Refinement of the Locus for Multiple Cutaneous Leiomyoma and Uterine Fibroids, Mcul1. Poster en Congreso. 63rd Annual Meeting of the Society for Investigative Dermatology. Los Angeles, CA, USA. 2002. Journal of Investigative Dermatology. P223. A094

Poblete Gutierrez, P, Martínez Mir, Amalia, Merk, H. F., Christiano, Angela M, Frank, J.:
Desmytification of Chester Porphyria: a Nonsense Mutation in the Porphobilinogen Deaminase Gene. Poster en Congreso. 63rd Annual Meeting of the Society for Investigative Dermatology. Los Angeles, CA, USA. 2002. Journal of Investigative Dermatology. P261. A323

Zlotogorski, Abraham, Ben Amitai, D., Metzker, A., Martínez Mir, Amalia, Christiano, Angela M:
Compound Heterozygous Mutations in the Hairless Gene Underlie Atrichia With Papular Lesions. Poster en Congreso. 63rd Annual Meeting of the Society for Investigative Dermatology. Los Angeles, CA, USA. 2002. Journal of Investigative Dermatology. P290. A493

Gonzalez Duarte, Roser, Paloma, Eva, Martínez Mir, Amalia, Coco, R, Vilageliu, Ll, et. al.:
Mutation and Haplotype Analysis of Abca4 in Mixed Spanish Families and Implication of This Gene in a Pattern Dystrophy Phenotype. Poster en Congreso. European Human Genetics Conference 2002. Strasbourg. 2002. European Journal of Human Genetics. P237. A:P0772

Djabali, K, Martínez Mir, Amalia, Horev, Liran, Klapholz, L, Glaser, B, et. al.:
Naxos Disease: Linkage Analysis and Evidence for Locus Heterogeneity. Poster en Congreso. 51st Annual Meeting of the American Society of Human Genetics. San Diego, CA, USA. 2001. American Journal of Human Genetics. P624. A2607

Martínez Mir, Amalia, Gordon, Derek, Horev, Liran, Ott, J., Zlotogorski, Abraham, et. al.:
Multiple Cutaneous Leiomyoma and Uterine Fibroids: Confirmation and Refinement of the Mcul1 Locus. Poster en Congreso. 51st Annual Meeting of the American Society of Human Genetics. San Diego, CA, USA. 2001. American Journal of Human Genetics. P626. A2618

O'shaugnessy, R, Martínez Mir, Amalia, Liu, J., Weiner, M. S., Gordon, Derek, et. al.:
The Gene for Epidermolysis Bullosa Simplex Superficialis Maps to Chromosome 3p21. Poster en Congreso. 62nd Annual Meeting of the Society for Investigative Dermatology. Washington, DC, USA. 2001. Journal of Investigative Dermatology. P516. A761

Kljuic, a, Djabali, K, Martínez Mir, Amalia, Horev, Liran, Klapholz, L, et. al.:
Evidence for Extensive Locus Heterogeneity in Naxos Disease. Poster en Congreso. 62nd Annual Meeting of the Society for Investigative Dermatology. Washington, DC, USA. 2001. Journal of Investigative Dermatology. P519. A780

Martínez Mir, Amalia, Liu, J., Gordon, Derek, Gilliam, T. C., Ott, J., et. al.:
Identification of the Locus for a Novel Acantholytic Disease on Chromosome 12. Poster en Congreso. 62nd Annual Meeting of the Society for Investigative Dermatology. Washington, DC, USA. 2001. Journal of Investigative Dermatology. P517. A768

Christiano, Angela M, Cserhalmi Friedman, Peter, Garzon, M. C., Guzman, e, Martínez Mir, Amalia, et. al.:
Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa. Poster en Congreso. 62nd Annual Meeting of the Society for Investigative Dermatology. Washington, DC, USA. 2001. Journal of Investigative Dermatology. P516. A760

Albalat, Ricard, Martínez Mir, Amalia, Gonzalez Duarte, Roser:
Characterization of the Presenilin Gene in Amphioxus. Comunicación en congreso. 4emes Journees Evolution Biologique. Marseille, Francia. 2000

Panteleyev, A. A., Martínez Mir, Amalia, O'brien, T., Christiano, Angela M, Sundberg, J. P.:
Ornithine Decarboxylase Transgenic Mice As a Model for Human Atrichia With Papular Lesions. Poster en Congreso. 61st Annual Meeting of the Society for Investigative Dermatology. Chicago (EEUU). 2000. Journal of Investigative Dermatology. P858. A651

Paloma, Eva, Martínez Mir, Amalia, Balcells, S, Gonzalez Duarte, Roser:
Allelic Heterogeneity in Stargardt Disease. Poster en Congreso. 31st Annual meeting of the European Society of Human Genetics. Geneva, Suiza. 1999. European Journal of Human Genetics. -. -

Martínez Mir, Amalia, Albalat, Ricard, Gonzalez Duarte, R:
Caracterización del Gen de la Presenilina en Amphioxus. Poster en Congreso. II Congreso de la Sociedad Española de Genética. A Coruña, España. 1999

Martínez Mir, Amalia, Paloma, Eva, Allikmets, Rando, Ayuso, C., Del Rio, T, et. al.:
Mutations in the Stargardt Disease Gene Abcr Cause Retinitis Pigmentosa. Ponencia en Congreso. VIII International Symposium on Retinal Degeneration. Schluchsee, Alemania. 1998

Balcells, S, Martínez Mir, Amalia, Paloma, Eva, Bayes, Monica, Valverde, Diana, et. al.:
Autosomal Recessive Retinitis Pigmentosa: an Example of Heterogeneity At Many Levels. Ponencia en Congreso. Inherited Disorders and their Genes in Different European Populations. Acquafredda di Maratea, Italia. 1998

Martínez Mir, Amalia, Bayes, Monica, Paloma, Eva, Vilageliu, Ll, Grinberg, Daniel, et. al.:
A New Locus for Autosomal Recessive Retinitis Pigmentosa Maps to 1p13-1p21. Ponencia en Congreso. FEGS/SEG II Minisymposium on Animal Models and Genetic Diseases. Valencia, España. 1997

Gonzalez Duarte, R, Bayes, Monica, Martínez Mir, Amalia, Vilageliu, Ll, Grinberg, Daniel, et. al.:
Analysis of Peripherin/Rds and Rom1 in 48 Spanish Retinitis Pigmentosa Families. Ponencia en Congreso. XII ICER (International Congress for Eye Research). Kyoto, Japan. 1996. Experimental Eye Research. -. -

Martínez Mir, Amalia, Bayes, Monica, Vilageliu, Ll, Grinberg, Daniel, Beneyto, M., et. al.:
Is a Mutant Allele of the Rom1 Gene Associated With Retinitis Pigmentosa?. Poster en Congreso. 28th Annual Meeting of the European Society of Human Genetics. London, UK. 1996. European Journal of Human Genetics. -. -

Martínez Mir, Amalia, Bayes, Monica, Valverde, D, Grinberg, Daniel, Vilageliu, Ll, et. al.:
Análisis de los Genes y Loci Implicados en Retinitis Pigmentosa Autosómica Recesiva. Ponencia en Congreso. IV Jornadas Conjuntas de las Secciones de Biología Molecular y Biología del Desarrollo. Sitges, España. 1995

Martínez Mir, Amalia, Vilageliu, Ll, Grinberg, Daniel, Gonzalez Duarte, R, Palau, F, et. al.:
Aplicación de la Técnica "Sperm Typing" al Estudio de la Mutación Causante de Cmt1a. Ponencia en Congreso. III Jornadas Conjuntas de las Secciones de Biología Molecular y Biología del Desarrollo. Sitges, España. 1994

Martínez Mir, Amalia, Grinberg, Daniel, Bayes, Monica, Valverde, D, Vilageliu, Ll, et. al.:
Candidate Gene Analysis in 33 Autosomal Recessive Retinitis Pigmentosa Families. Ponencia en Congreso. 29 Jornadas de Genética Luso-Españolas. Lleida, España. 1994

Tesis dirigidas y co-dirigidas:


Camacho Garcia, Rafael Jesús:
Estudio de las bases genéticas de enfermedades del neurodesarrollo: epilepsia y autismosiones febriles y autismo. Tesis Doctoral. 2013

Tristán Clavijo, Enriqueta:
Identificación de factores genéticos en enfermedades neurológicas paroxísticas con herencia mendeliana y multifactorial. Tesis Doctoral. 2012

Vicerrectorado de Investigación. Universidad de Sevilla. Pabellón de Brasil. Paseo de las Delicias s/n. Sevilla