Your search returned 16 results.

Results
	1.	[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier]. [electronic resource] by Murga-Eizagaechevarria, Nekane Garcia-Barcina, Maria Sarasola Diez, Esther Producer: 20120320 In: Revista espanola de cardiologia vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis. [electronic resource] by Sarasola, Esther Rodríguez, Jose A Garrote, Elisa Arístegui, Javier García-Barcina, Maria J Producer: 20110915 In: BMC medical genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Absence of COCH gene mutations in patients with superior semicircular canal dehiscence. [electronic resource] by Crovetto, Miguel A Whyte, Jaime Sarasola, Esther Rodriguez, Jose A García-Barcina, María J Producer: 20130620 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Brachydactyly E: isolated or as a feature of a syndrome. [electronic resource] by Pereda, Arrate Garin, Intza Garcia-Barcina, Maria Gener, Blanca Beristain, Elena Ibañez, Ane Miren Perez de Nanclares, Guiomar Producer: 20140717 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux. [electronic resource] by Franco, María Luisa Melero, Cristina Sarasola, Esther Acebo, Paloma Luque, Alfonso Calatayud-Baselga, Isabel García-Barcina, María Vilar, Marçal Producer: 20170519 In: The Journal of biological chemistry vol. 291 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Effect of resveratrol on alcohol-induced mortality and liver lesions in mice. [electronic resource] by Bujanda, Luis García-Barcina, María Gutiérrez-de Juan, Virginia Bidaurrazaga, Joseba de Luco, Marian Fernández Gutiérrez-Stampa, Marian Larzabal, Mikel Hijona, Elisabeth Sarasqueta, Cristina Echenique-Elizondo, Miguel Arenas, Juan I Producer: 20061215 In: BMC gastroenterology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Does arterial hypertension influence the onset of Huntington's disease? [electronic resource] by Valcárcel-Ocete, Leire Fullaondo, Asier Alkorta-Aranburu, Gorka García-Barcina, María Roos, Raymund A C Hjermind, Lena E Saft, Carsten Frontali, Marina Reilmann, Ralf Rickards, Hugh Zubiaga, Ana M Aguirre, Ana Producer: 20181126 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability. [electronic resource] by Alloza, Iraide Goikuria, Haize Idro, Juan Luis Triviño, Juan Carlos Fernández Velasco, José María Elizagaray, Elena García-Barcina, María Montoya-Murillo, Genoveva Sarasola, Esther Vega Manrique, Reyes Freijo, Maria Del Mar Vandenbroeck, Koen Producer: 20190225 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Fine mapping and functional analysis of the multiple sclerosis risk gene CD6. [electronic resource] by Swaminathan, Bhairavi Cuapio, Angélica Alloza, Iraide Matesanz, Fuencisla Alcina, Antonio García-Barcina, Maria Fedetz, Maria Fernández, Oscar Lucas, Miguel Orpez, Teresa Pinto-Medel, M Jesus Otaegui, David Olascoaga, Javier Urcelay, Elena Ortiz, Miguel A Arroyo, Rafael Oksenberg, Jorge R Antigüedad, Alfredo Tolosa, Eva Vandenbroeck, Koen Producer: 20131209 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene. [electronic resource] by Valcárcel-Ocete, Leire Alkorta-Aranburu, Gorka Iriondo, Mikel Fullaondo, Asier García-Barcina, María Fernández-García, José Manuel Lezcano-García, Elena Losada-Domingo, José María Ruiz-Ojeda, Javier Álvarez de Arcaya, Amaia Pérez-Ramos, José María Roos, Raymund A C Nielsen, Jørgen E Saft, Carsten Zubiaga, Ana M Aguirre, Ana Producer: 20160330 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. [electronic resource] by Alvarez, Victoria Sánchez-Ferrero, Elena Beetz, Christian Díaz, Marta Alonso, Belén Corao, Ana I Gámez, Josep Esteban, Jesús Gonzalo, Juan F Pascual-Pascual, Samuel I López de Munain, Adolfo Moris, Germán Ribacoba, Renne Márquez, Celedonio Rosell, Jordi Marín, Rosario García-Barcina, Maria J Del Castillo, Emilia Benito, Carmen Coto, Eliecer Producer: 20110106 In: BMC neurology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes. [electronic resource] by Varadé, Jezabel Comabella, Manuel Ortiz, Miguel A Arroyo, Rafael Fernández, Oscar Pinto-Medel, M Jesús Fedetz, María Izquierdo, Guillermo Lucas, Miguel Gómez, Carlos López Rabasa, Antonio Catalá Alcina, Antonio Matesanz, Fuencisla Alloza, Iraide Antigüedad, Alfredo García-Barcina, María Otaegui, David Olascoaga, Javier Saiz, Albert Blanco, Yolanda Montalbán, Xavier Vandenbroeck, Koen Urcelay, Elena Producer: 20121112 In: Multiple sclerosis (Houndmills, Basingstoke, England) vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis. [electronic resource] by Alcina, Antonio Fedetz, Maria Fernández, Oscar Saiz, Albert Izquierdo, Guillermo Lucas, Miguel Leyva, Laura García-León, Juan-Antonio Abad-Grau, María Del Mar Alloza, Iraide Antigüedad, Alfredo Garcia-Barcina, María J Vandenbroeck, Koen Varadé, Jezabel de la Hera, Belén Arroyo, Rafael Comabella, Manuel Montalban, Xavier Petit-Marty, Natalia Navarro, Arcadi Otaegui, David Olascoaga, Javier Blanco, Yolanda Urcelay, Elena Matesanz, Fuencisla Producer: 20130516 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. [electronic resource] by De la Casa-Fages, Beatriz Fernández-Eulate, Gorka Gamez, Josep Barahona-Hernando, Raúl Morís, Germán García-Barcina, María Infante, Jon Zulaica, Miren Fernández-Pelayo, Uxoa Muñoz-Oreja, Mikel Urtasun, Miguel Olaskoaga, Ander Zelaya, Victoria Jericó, Ivonne Saez-Villaverde, Raquel Catalina, Irene Sola, Emma Martínez-Sáez, Elena Pujol, Aurora Ruiz, Montserrat Schlüter, Agatha Spinazzola, Antonella Muñoz-Blanco, Jose Luis Grandas, Francisco Holt, Ian Álvarez, Victoria López de Munaín, Adolfo Producer: 20200612 In: Movement disorders : official journal of the Movement Disorder Society vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion". [electronic resource] by De la Casa-Fages, Beatriz Fernández-Eulate, Gorka Gamez, Josep Barahona-Hernando, Raúl Morís, Germán García-Barcina, María Infante, Jon Zulaica, Miren Fernández-Pelayo, Uxoa Muñoz-Oreja, Mikel Urtasun, Miguel Olaskoaga, Ander Zelaya, Victoria Jericó, Ivonne Saez-Villaverde, Raquel Catalina, Irene Sola, Emma Martínez-Sáez, Elena Pujol, Aurora Ruiz, Montserrat Schlüter, Agatha Spinazzola, Antonella Muñoz-Blanco, Jose Luis Grandas, Francisco Holt, Ian Álvarez, Victoria López de Munaín, Adolfo Producer: 20200128 In: Movement disorders : official journal of the Movement Disorder Society vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. [electronic resource] by García-Redondo, Alberto Dols-Icardo, Oriol Rojas-García, Ricard Esteban-Pérez, Jesús Cordero-Vázquez, Pilar Muñoz-Blanco, José Luis Catalina, Irene González-Muñoz, Miguel Varona, Luis Sarasola, Esther Povedano, Monica Sevilla, Teresa Guerrero, Antonio Pardo, Julio López de Munain, Adolfo Márquez-Infante, Celedonio de Rivera, Francisco Javier Rodríguez Pastor, Pau Jericó, Ivonne de Arcaya, Amaya Álvarez Mora, Jesús S Clarimón, Jordi Gonzalo-Martínez, Juan Francisco Juárez-Rufián, Alexandra Atencia, Gabriela Jiménez-Bautista, Rosario Morán, Yolanda Mascías, Javier Hernández-Barral, María Kapetanovic, Solange García-Barcina, María Alcalá, Carmen Vela, Alvaro Ramírez-Ramos, Concepción Galán, Lucía Pérez-Tur, Jordi Quintáns, Beatriz Sobrido, M Jesús Fernández-Torrón, Roberto Poza, Juan José Gorostidi, Ana Paradas, Carmen Villoslada, Pablo Larrodé, Pilar Capablo, José Luis Pascual-Calvet, Jordi Goñi, Miguel Morgado, Yolanda Guitart, Miriam Moreno-Laguna, Sira Rueda, Almudena Martín-Estefanía, Carlos Cemillán, Carlos Blesa, Rafael Lleó, Alberto Producer: 20130701 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)