Dr. Javier Ruiz Martínez

 Experiencia profesional

• Más de 25 años de experiencia
• Neurólogo en el Hospital Universitario Donostia (San Sebastián, Gipuzkoa, junio 2006 - actualidad)
• Neurólogo del Hospital de Mendaro en Gipuzkoa (enero 1999 - junio 2006)
• Responsable Área Enfermedades Neurodegenerativas, Instituto de Investigación Biodonostia (San Sebastián, Gipuzkoa, enero 2018 - actualidad)

...

 Cargos en asociaciones públicas

• Responsable Área Enfermedades Neurodegenerativas, Instituto de Investigación Biodonostia (San Sebastián, Gipuzkoa, enero 2018 - actualidad)

 Docencia

• Profesor adjunto por Unibasq (mayo 2016 - actualidad)
• Profesor Agregado por Unibasq (mayo 2016 - actualidad)
• Profesor Universidad Privada por Unibasq (mayo 2017 - actualidad)
• Doctor Investigador por Unibasq (mayo 2017 - actualidad)
• Profesor Titular de Neurología de la Universidad del País Vasco (UPV/EHU)

...

 Logros académicos destacados

• Licenciatura en Medicina y Cirugía por la Universidad de Navarra (1987 - 1993)
• Especialista en Neurología y residente en el Hospital Universitario Donostia (1995 - 1998)
• Máster en Trastornos del Movimiento por la Universidad de Murcia (2011)
• Doctor en Medicina y Cirugía, en Neurociencia por la Universidad del País Vasco / Euskal Herriko Unibertsitatea (2012)
• Investigador en el Instituto de Investigación Sanitaria Biodonostia en el Área de Neurociencias (enfermedades neurodegenerativas) (enero 2011 - actualidad)

...

 Publicaciones y conferencias

• Kathrin Brockmann, Anja Apel, Claudia Schulte, Nicole Schneiderhan-Marra, Claustre Pont-Sunyer, Dolores Vilas, Javier Ruiz-Martinez, Markus Langkamp, Jean-Christophe Corvol, Florence Cormier, Thomas Knorpp, Thomas O. Joos, Thomas Gasser, Birgitt Schüle, Jan O. Aasly, Tatiana Foroud, Jose Felix Marti-Masso, Alexis Brice, Eduardo Tolosa, Connie Marras, Daniela Berg, Walter Maetzler: Inflammatory profile in LRRK2-associated prodromal and clinical PD. Journal of Neuroinflammation 12/2016; 13(1). DOI:10.1186/s12974-016-0588-5
• Ana Gorostidi, José Félix Martí-Massó, Alberto Bergareche, Mari Cruz Rodríguez-Oroz, Adolfo López de Munain, Javier Ruiz-Martínez: Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels. 06/2016; DOI:10.1007/s40291-016-0216-1
• Connie Marras, Alcalay RN, Chelsea Caspell-Garcia, Christopher Coffey, Piu Chan, Duda JE, Facheris MF, Rubén Fernández-Santiago, Javier Ruíz-Martínez, Tiago Mestre, Rachel Saunders-Pullman, Claustre Pont-Sunyer, Eduardo Tolosa, Bjorg Waro, LRRK2 Cohort Consortium: Motor and Nonmotor Heterogeneity of LRRK2-Related and Idiopathic Parkinson's Disease. Movement Disorders 04/2016; DOI:10.1002/mds.26614
• Alberto Bergareche, Maria Cruz Rodríguez-Oroz, Ainara Estanga, Ana Gorostidi, Adolfo López de Munain, Tamara Castillo-Triviño, Javier Ruiz-Martínez, Elisabet Mondragón, Carles Gaig, Francisco Lomeña, Cristina Sarasqueta, Eduardo Tolosa, José Félix Martí-Massó: DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease. Movement Disorders 12/2015; 31(3). DOI:10.1002/mds.26478
• Alberto Bergareche, Marcin J. Bednarz, Elena Sánchez, Catharine E. Krebs, Javier Ruiz-Martinez, Patricia De la Riva, Vladimir Makarov, Ana Gorostidi, Karin Jurkat-Rott, Jose Felix Marti-Masso, Coro Paisán-Ruiz: SCN4A Pore Mutation Pathogenetically Contributes to Autosomal Dominant Essential Tremor and May Increase Susceptibility to Epilepsy. Human Molecular Genetics 10/2015; 110(3). DOI:10.1093/hmg/ddv410
• Elena Sánchez, Alberto Bergareche, Catharine E. Krebs, Ana Gorostidi, Vladimir Makarov, Javier Ruiz-Martinez, Alejo Chorny, Lopez de Munain A, Marti-Masso JF, Coro Paisán-Ruiz: SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor. ASN Neuro 08/2015; 7(4). DOI:10.1177/1759091415598290
• Javier Ruiz-Martinez, Catharine E Krebs, Vladimir Makarov, Ana Gorostidi, Jose Félix Martí-Massó, Coro Paisán-Ruiz: GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment. Journal of Human Genetics 07/2015; 60(10). DOI:10.1038/jhg.2015.69
• Beatriz Tijero, Iñigo Gabilondo, Elena Lezcano, Nuria Teran Villagrá, Verónica Llorens, Javier Ruiz-Martinez, Jose Felix Marti Masso, Carmona M, Maria Rosario Luquin, Koldo Berganzo, Ivan Fernandez, Manuel Fernandez, Juan José Zarranz, Juan Carlos Gómez Esteban: Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations. Parkinsonism & Related Disorders 04/2015; 21(7). DOI:10.1016/j.parkreldis.2015.04.012
• J.F. Martí Massó, J. Ruiz-Martinez, C. Paisan-Ruiz, A. Gorostidi, A. Bergarehe, A. López de Munain, A. Alzualde, J. Pérez-Tur: Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain). Journal of Behavioral and Brain Science 03/2015; 05(03). DOI:10.4236/jbbs.2015.53010
• Lorraine V. Kalia, Anthony E. Lang, L. N. Hazrati, Shinsuke Fujioka, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross, Vivianna M. Van Deerlin, John Q. Trojanowski, Howard I. Hurtig, Roy N. Alcalay, Karen S. Marder, Lorraine N. Clark, Carles Gaig, Eduardo Tolosa, Javier Ruiz-Martínez, Jose F. Marti-Masso, Isidre Ferrer, Adolfo López de Munain, Samuel M. Goldman, B. Schule, J. William Langston, Jan O. Aasly, Maria T. Giordana, Vincenzo Bonifati, Andreas Puschmann, Margherita Canesi, Gianni Pezzoli, Andre Maues De Paula, Kazuko Hasegawa, Charles Duyckaerts, Alexis Brice, A. Jon Stoessl, Connie Marras: Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease. JAMA Neurology 11/2014; 72(1). DOI:10.1001/jamaneurol.2014.2704
• Ilir Agalliu, Marta San Luciano, Anat Mirelman, Nir Giladi, Bjorg Waro, Jan Aasly, Rivka Inzelberg, Sharon Hassin-Baer, Eitan Friedman, Javier Ruiz-Martinez, Jose Felix Marti-Masso, Avi Orr-Urtreger, Susan Bressman, Rachel Saunders-Pullman: Higher Frequency of Certain Cancers in LRRK2 G2019S Mutation Carriers With Parkinson Disease. JAMA Neurology 11/2014; 72(1). DOI:10.1001/jamaneurol.2014.1973
• A. Estanga, M. C. Rodriguez-Oroz, J. Ruiz-Martinez, M. Barandiaran, A. Gorostidi, A. Bergareche, E. Mondragon, A. Lopez de Munain, J. F. Marti-Masso: Cognitive dysfunction in Parkinson’s disease related to the R1441G mutation in LRRK2. Parkinsonism & Related Disorders 10/2014; 20(10). DOI:10.1016/j.parkreldis.2014.07.005
• Roy N Alcalay, Jan Aasly, Daniela Berg, Susan Bressman, Alexis Brice, Kathrin Brockmann, Piu Chan, Lorraine Clark, Florence Cormier, Jean-Christophe Corvol, Alexandra Durr, Maurizio Facheris, Matthew Farrer, Tatiana M Foroud, Thomas Gasser, Nir Giladi, Cheryl Halter, Anthony Lang, J William Langston, Connie Marras, Jose-Felix Marti-Masso, Javier Ruiz Martinez, Helen Mejia-Santana, Anat Mirelman, Claustre Pont-Sunyer, Avi Orr-Urtreger, Deborah Raymond, Rachel Saunders-Pullman, Birgitt Schüle, Caroline Tanner, Eduardo Tolosa, Alison Urkowitz, Dolores Vilas, Adina Wise, Karen Marder: Michael J. Fox Foundation LRRK2 Consortium: Geographical differences in returning genetic research data to study participants. Genetics in medicine: official journal of the American College of Medical Genetics 08/2014; 16(8). DOI:10.1038/gim.2014.55
• Beatriz Alvarez-Castelao, Ana Gorostidi, Javier Ruíz-Martínez, Adolfo López de Munain, José G Castaño: Epitope Mapping of Antibodies to Alpha-Synuclein in LRRK2 Mutation Carriers, Idiopathic Parkinson Disease Patients, and Healthy Controls. Frontiers in Aging Neuroscience 07/2014; 6. DOI:10.3389/fnagi.2014.00169
• J. Arbizu, M.R. Luquin, J. Abella, R. de la Fuente-Fernández, R. Fernandez-Torrón, D. García-Solís, P. Garrastachu, J.M. Jiménez-Hoyuela, M. Llaneza, F. Lomeña, C. Lorenzo-Bosquet, M.J. Martí, J.C. Martinez-Castrillo, P. Mir, M. Mitjavila, J. Ruiz-Martínez, L. Vela: Neuroimagen funcional en el diagnóstico de pacientes con síndrome parkinsoniano: actualización y recomendaciones para el uso clínico. Revista Espanola de Medicina Nuclear e Imagen Molecular 07/2014; 33(4). DOI:10.1016/j.remn.2014.02.001
• Javier Ruiz-Martínez, Patricia de la Riva, Maria C Rodríguez-Oroz, Elisabet Mondragón Rezola, Alberto Bergareche, Ana Gorostidi, Belen Gago, Ainara Estanga, Nerea Larrañaga, Cristina Sarasqueta, Adolfo López de Munain, José F Martí Massó: Prevalence of Cancer in Parkinson's Disease Related to R1441G and G2019S Mutations in LRRK2. Movement Disorders 05/2014; DOI:10.1002/mds.25778
• Isabel González-Aramburu, Pascual Sánchez-Juan, Silvia Jesús, Ana Gorostidi, Eduardo Fernández-Juan, Fátima Carrillo, María Sierra, Pilar Gómez-Garre, María T Cáceres-Redondo, José Berciano, Javier Ruiz-Martínez, Onofre Combarros, Pablo Mir, Jon Infante: Genetic Variability Related to Serum Uric Acid Concentration and Risk of Parkinson's Disease. Movement Disorders 10/2013; 28(12). DOI:10.1002/mds.25507
• Jose Felix Martí-Massó, Alberto Bergareche, Vladimir Makarov, Javier Ruiz-Martinez, Ana Gorostidi, Adolfo López de Munain, Juan Jose Poza, Pasquale Striano, Joseph D Buxbaum, Coro Paisán-Ruiz: The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. Journal of Molecular Medicine 08/2013; 91(12). DOI:10.1007/s00109-013-1075-4
• Beatriz Tijero, Gómez-Esteban JC, Elena Lezcano, Carmen Fernández-González, Johanne Somme, Verónica Llorens, Ana Martínez, Javier Ruiz-Martínez, Nerea Foncea, Inés Escalza, Koldo Berganzo, Aniel-Quiroga MA, Verónica Ruiz, Nuria Terán, Horacio Kaufmann, Zarranz JJ: Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the α synuclein gene. Parkinsonism & Related Disorders 01/2013; 1(19). DOI:10.1016/j.parkreldis.2012.08.001
• Ana Gorostidi, Alberto Bergareche, Javier Ruiz-Martínez, José F Martí-Massó, María Cruz, Shiji Varghese, Mohamed M Qureshi, Fatimah Alzahmi, Abdulmonem Al-Hayani, Adolfo López de Munáin, Omar M.A. El-Agnaf: α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers. PLoS ONE 12/2012; 7(12). DOI:10.1371/journal.pone.0052312
• B. Hernández, J. L. Molinuevo, M. C. Ortiz Domingo, P. González García, T. Calatayud Noguera, J. A. Gil López, J. Gutiérrez Rodríguez, E. Rodríguez Rodríguez, M. Goñi Imizcoz, J. Ruiz Martinez, J. Aguirre Inchusta, A. Urrutia Sanzberro, J. L. Sánchez Menoyo, J. Ruiz Ojeda, J. Marey López, J. C. Porven Díaz, M. T. Olcoz Chiva, M. Vinuela Beneitez, A. M. Pujol Nuez, F. Nobbe, A. García Trujillo, C. Díez-Aja López, J. Catena Mir, A. Molins Albanell, Fernández Adarte Mdel M, M. R. Cano Castella, J. Burcet Darde, R. Cristofol Allué, A. I. Tercero Uribe, S. Abaceta Arilla, M. Pujol Sabaté, C. Almenar Monfort, B. Menni, S. B. de Llobregat, D. Gil Saladie, R. R. Ramírez, D. A. Pérez Martínez, J. Almajano Martínez, J. Benito León, M. Á. García Soldevilla, C. Borrué Fernández, P. E. Bermejo Velasco, P. Gil Gregorio, M. S. Manzano Palomo, J. Cacho Gutiérrez, C. Sevilla Gómez, E. Navarro Merino, M. Ochoa Mulas, P. Sánchez Alonso, B. Mondejar Marín, C. Marsal Alonso, J. L. Parrilla Ramírez, I. Casado Naranjo, M. Zurdo Hernández, J. M. Girón Úbeda, J. C. Durán Alonso, M. T. García López, T. Ojea Ortega, M. Romero Acebal, V. Serrano Castro, J. M. Torralba Roses, E. Aguera Morales, E. Cuartero Rodríguez, F. Viñuela Fernández, M. Carballo Cordero, A. Alayón Fumero, J. Andrés Cárdenas, M. C. Pérez Vieitez, J. Escudero Torrilla, M. D. Martínez Lozano, V. Tordera Tordera, A. Campayo Ibáñez, E. López Jiménez, I. Feria Vilar, Immaculada Abellán Miralles, J. Alom Poveda, J. Marín Muñoz, L. Carles Dies, L. M. Cabello Rodríguez, A. Salvador Aliaga, R. Muñoz Lacalle: Assessment of the information provided by the medical specialist on Alzheimer's disease and that retained by the patient caregivers. Molinuevo JL1, Hernández B; Grupo de Trabajo del Estudio TRACE. Neurologia. 2012 Oct;27(8):453-71.. Neurologia (Barcelona, Spain) 10/2012; Neurologia. 2012(Oct;27(8)).
• Jose Felix Marti-Masso, Javier Ruiz-Martínez, Vladimir Makarov, Adolfo López de Munain, Ana Gorostidi, Alberto Bergareche, Seungtai Yoon, Joseph D Buxbaum, Coro Paisán-Ruiz: Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Hum Genet. Human Genetics 09/2011; 131(3). DOI:10.1007/s00439-011-1086-6
• Javier Ruiz-Martínez, Ana Gorostidi, Estibaliz Goyenechea, Ainhoa Alzualde, Juan José Poza, Francisco Rodríguez, Alberto Bergareche, Fermín Moreno, Adolfo López de Munain, José F Martí Massó: Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations. Movement Disorders 09/2011; 26(11). DOI:10.1002/mds.23773
• Inés García-Gorostiaga, María Sierra, Pascual Sánchez-Juan, Javier Ruiz-Martínez, Ana Gorostidi, Isabel González-Aramburu, José Félix Martí-Massó, José Berciano, Onofre Combarros, Jon Infante: Genetic variation in α-synuclein kinases (CK-2β and GRK-5) and risk of Parkinson’s disease. Parkinsonism & Related Disorders 07/2011; 17(6). DOI:10.1016/j.parkreldis.2011.04.003
• Tanya Stojkovic, El Hadi Hammouda, Pascale Richard, Adolfo López de Munain, Javier Ruiz-Martinez, Pilar Camaño, Pascal Laforêt, Isabelle Pénisson-Besnier, Xavier Ferrer, Arnaud Lacour, Lucette Lacomblez, Kristl G. Claeys: Erratum to ‘Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia’ [Neuromuscular Disorders 19 (2009) 316–323]. Neuromuscular Disorders 03/2011; 21(3). DOI:10.1016/j.nmd.2010.12.004
• José Félix Martí Massó, Javier Ruiz-Martínez, Alberto Bergareche, Adolfo López de Munain: Parkinsonism induced by sulpiride and veralipride: Two different stories. Medicina Clínica 02/2011; 137(10). DOI:10.1016/j.medcli.2010.09.038
• Javier Ruiz-Martínez, Ana Gorostidi, Berta Ibañez, Ainhoa Alzualde, David Otaegui, Fermin Moreno, Adolfo López de Munain, Alberto Bergareche, Juan Carlos Gómez-Esteban, José F. Martí Massó: Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain). Movement Disorders 10/2010; 25(14). DOI:10.1002/mds.23278
• B Tijero, J C Gomez-Esteban, V Llorens, E Lezcano, M C Gonzalez-Fernández, M Martinez de Pancorbo, J Ruiz-Martinez, J C Cembellin, J J Zarranz: Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the α-synuclein gene (SNCA). Clinical Autonomic Research 05/2010; 20(4). DOI:10.1007/s10286-010-0068-4
• E Mondragón-Rezola, I Arratíbel-Echarren, J Ruiz-Martínez, J F Martí-Massó: Sleep disorders in Parkinson's disease: Insomnia and sleep fragmentation, daytime hypersomnia, alterations to the circadian rhythm and sleep apnea syndrome. Revista de neurologia 02/2010; 50 Suppl 2.
• Carlos Cruchaga, Jose M. Vidal-Taboada, Mario Ezquerra, Elena Lorenzo, Pablo Martinez-Lage, Marta Blazquez, Eduardo Tolosa, Carles Gaig, Maria Jose Marti, Jose Luis Molinuevo, Francesc Valldeoriola, Jaume Campdelacreu, Purificacion de Castro, Joseph C. Masdeu, Rosario Luquín, Jose A. Obeso, Maria A. Pastor, Mario Riverol, Maria Cruz Rodriguez, Pablo Villoslada, Teresa Tuñon, Cecilia Huerta, Victoria Alvarez, Matilde Calopa, Elena Erro, Ana Rojo, Javier Ruiz, e * Pau Pastor a: 5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. Neurobiology of Disease 11/2009; 33(33). DOI:10.1016/j.nbd.2008.09.027
• Coro Paisán-Ruiz, Javier Ruiz-Martinez, Marta Ruibal, Kin Y Mok, Begona Indakoetxea, Ana Gorostidi, José F Martí Massó: Identification of a Novel THAP1 Mutation at R29 Amino-acid Residue in Sporadic Patients with Early-Onset Dystonia. Movement Disorders 11/2009; 24(16). DOI:10.1002/mds.22849
• José-Félix Martí-Massó, Javier Ruiz-Martínez, Maria J Bolaño, Irune Ruiz, Ana Gorostidi, Fermin Moreno, Isidre Ferrer, Adolfo López de Munain: Neuropathology of Parkinson's Disease with the R1441G Mutation in LRRK2. Movement Disorders 10/2009; 24(13). DOI:10.1002/mds.22677
• F Moreno, B Indakoetxea, M Barandiaran, A Alzualde, A Gabilondo, A Estanga, J Ruiz, M Ruibal, A Bergareche, J F Martí-Massó, A López de Munain: "Frontotemporoparietal" dementia Clinical phenotype associated with the c.709-1G > A PGRN mutation. Neurology 10/2009; 73(17). DOI:10.1212/WNL.0b013e3181bd82a7
• Tanya Stojkovic, El Hadi Hammouda, Pascale Richard, Adolfo Lopez de Munain, Javier Ruiz-Martinez, Pilar Camaño, Pilar Camaño Gonzalez, Pascal Laforêt, Isabelle Pénisson-Besnier, Xavier Ferrer, Arnaud Lacour, Lucette Lacomblez, Kristl G Claeys, Claude-Alain Maurage, Michel Fardeau, Bruno Eymard: Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia. Neuromuscular Disorders 05/2009; 19(5). DOI:10.1016/j.nmd.2009.02.012
• A. Gorostidi, J. Ruiz-Martínez, A. Lopez de Munain, A. Alzualde, J. F. Marti Masso: LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity. Neurogenetics 04/2009; 10(2). DOI:10.1007/s10048-008-0162-0
• J Ruiz-Martínez, I Arratibel-Echarren, A Gorostidi-Pagola, A Bergareche, J F Martí-Massó: Tremor: Update and controversy. Revista de neurologia 01/2009; 48 Suppl 1.
• A Sistiaga, P Camaño, D Otaegui, B Ibáñez, J Ruiz-Martinez, J F Martí-Massó, A. Lopez de Munain: Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect. Genes Brain and Behavior 10/2008; 8(1). DOI:10.1111/j.1601-183X.2008.00442.x
• D Otaegui, O Zuriarrain, T Castillo-Triviño, Am Aransay, J Ruíz-Martinez, J Olaskoaga, Jf Marti-Masso, A Lopez de Munain: Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients. Multiple Sclerosis 09/2008; 15(1). DOI:10.1177/1352458508096682
• Adolfo López de Munain, Ainhoa Alzualde, Ana Gorostidi, David Otaegui, Javier Ruiz-Martínez, Begoña Indakoetxea, Isidro Ferrer, Jordi Pérez-Tur, Amets Sáenz, Alberto Bergareche, Miriam Barandiarán, Juan José Poza, Ramón Zabalza, Irune Ruiz, Miguel Urtasun, Iñaki Fernández-Manchola, Bixen Olasagasti, Juan Bautista Espinal, Javier Olaskoaga, Marta Ruibal, Fermin Moreno, Nieves Carrera, José Félix Martí Massó: Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings. Biological psychiatry 05/2008; 63(10). DOI:10.1016/j.biopsych.2007.08.015
• L Blázquez, D De Juan, J Ruiz-Martínez, J I Emparanza, A Sáenz, D Otaegui, A Sistiaga, P Martínez-Lage, I Lamet, L Samaranch, C Buiza, I Etxeberria, E Arriola, E Cuadrado, E Urdaneta, J Yanguas, A. Lopez De Munain: Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population. Neurobiology of aging 01/2008; 28(12). DOI:10.1016/j.neurobiolaging.2006.08.009
• D Otaegui, J Ruíz-Martínez, J Olaskoaga, J I Emparanza, A. Lopez de Munain: Influence of CCR5-Δ32 genotype in Spanish population with multiple sclerosis. Neurogenetics 09/2007; 8(3). DOI:10.1007/s10048-007-0085-1
• J Benito-León, P Martínez-Martín, B Frades, M.L. Martinez-Gines, C de Andrés, J.E. Meca-Lallana, A R Antigüedad, B Huete-Antón, E Rodríguez-García, J Ruiz-Martínez: Impact of fatigue in multiple sclerosis: the Fatigue Impact Scale for Daily Use (D-FIS). Multiple Sclerosis 07/2007; 13(5). DOI:10.1177/1352458506073528
• D Otaegui, A Saenz, J Ruiz-Martinez, J Olaskoaga, A. Lopez de Munain: UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor. Multiple Sclerosis 06/2007; 13(4). DOI:10.1177/1352458506070454
• L Blázquez, D Otaegui, A Sáenz, C Paisán-Ruiz, J.I. Emparanza, J Ruiz-Martinez, F Moreno, J.F. Martí-Massó, A. López de Munain: Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson’s disease. Neurosci Lett. Neuroscience Letters 11/2006; 406(3). DOI:10.1016/j.neulet.2006.07.037
• Javier Simón-Sánchez, José-Félix Martí-Massó, José Vicente Sánchez-Mut, Coro Paisán-Ruiz, Angel Martínez-Gil, Javier Ruiz-Martínez, Amets Sáenz, Andrew B Singleton, Adolfo Lopez de Munain, Jordi Pérez-Tur: Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the Basques. Movement Disorders 11/2006; 21(11). DOI:10.1002/mds.21114
• D Otaegui, A Sáenz, P Camaño, L Blázquez, M Goicoechea, J Ruíz-Martínez, J Olaskoaga, J.A. Emparanza, A López de Munain: CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population. Multiple Sclerosis 09/2006; 12(4). DOI:10.1191/135248506ms1314sr
• L. Zuliani, A. López De Munain, J. Ruiz Martínez, J. Olascoaga, F. Graus, A. Saiz: NMO-IgG antibodies in neuromyelitis optica: A report of 2 cases [Anticuerpos IgG-NMO en la neuromielitis óptica: A propósito de 2 casos].
• I Soria, S Irigoien, J Ruiz Martínez, JJ Villarreal: Alteraciones electrocardiográficas e isquemia arterial en migraña transformada por consumo de ergotamina. Atención Primaria 12/2004; 34(3). DOI:10.1157/13064533
• Coro Paisán-Ruíz, Shushant Jain, E Whitney Evans, William P Gilks, Javier Simón, Marcel van der Brug, Adolfo López de Munain, Silvia Aparicio, Angel Martínez Gil, Naheed Khan, Janel Johnson, Javier Ruiz Martinez, David Nicholl, Itxaso Marti Carrera, Amets Saénz Pena, Rohan de Silva, Andrew Lees, José Félix Martí-Massó, Jordi Pérez-Tur, Nick W Wood, Andrew B Singleton: Paisán-Ruíz, C., Jain, S., Evans, E. W., Gilks, W. P., Sim, J., van der Brug, M. et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44, 595-600. Neuron 11/2004; 44(4). DOI:10.1016/j.neuron.2004.10.023
• J Ruiz Martínez, J Villanua, J Recondo: [Vasculitis caused by toxic agents: diagnosis and follow up by magnetic resonance angiography]. Revista de neurologia 03/2004; 38(5).
• Gurutz Linazasoro, Begoña Indakoetxea, Javier Ruiz, Nadege Van Blercom, Asier Lasa: Possible sporadic rapid-onset dystonia-parkinsonism. Movement Disorders 06/2002; 17(3). DOI:10.1002/mds.10103
• Gurutz Linazasoro, Nadege Van Blercom, Asier Lasa, Begoña Indakoetxea, Javier Ruiz: Levodopa-induced ocular dyskinesias in Parkinson's disease. Movement Disorders 02/2002; 17(1). DOI:10.1002/mds.10017
• J F Martí Massó, J Ruiz Martínez: Dementia with Lewy bodies. Neurologia (Barcelona, Spain) 02/2000; 15(1).
• J Ruiz-Martínez, A Martínez Pérez-Balsa, M Ruibal, M Urtasun, J Villanua, J F Martí Massó: Marchiafava-Bignami disease with widespread extra callosal lesions and favorable course. Neuroradiology 02/1999; 41(1). DOI:10.1007/s002340050702
• A López de Munain, A Urtasun, J J Poza, J Ruiz, A Sáenz, A M Cobo, A Lasa, P Gallano, M Baiget, J F Martí-Massó: [Alterations in functional proteins. Calpaine-3 deficiency]. Revista de neurologia 01/1999; 28(2).
• A Martínez Pérez-Balsa, A De Arce, A Castiella, P López, M Ruibal, J Ruiz-Martínez, A López De Munain, J F Martí Massó: Hepatotoxicity due to ticlopidine. Annals of Pharmacotherapy 12/1998; 32(11).
• J Ruiz Martínez, M Martínez Zabaleta: [Basal meningitis].. Neurologia (Barcelona, Spain) 03/1998; 13(2).
• A. Martinez Pérez-Balsa, J.F. Marti-Massô, A. De Lôpez Munain, M. Ruibal, J. Ruiz: Rubric' tremor after thalamic yascular lesions. Revista de neurologia 01/1998; 26(149).
• J Ruiz Martínez, X Goikoetxea Iraola: [A young woman with headache worsening on the standing position and specific findings in magnetic resonance]. Revista Clínica Española 10/1997; 197(9).
• E Ojeda, J Ruiz, A Cosme, C Lobo: [Menetrier disease associated with ulcerative colitis. Response to the treatment with octreotide. Review of the diagnostic criteria and etiopathogenesis]. Gastroenterología y Hepatología 05/1997; 20(4).
• A Martínez Pérez-Balsa, J F Martí Massó, M Ruibal, J Ruiz: [Spontaneous intravascular rupture of a giant neuroepithelial cyst]. Neurologia (Barcelona, Spain) 02/1997; 12(1).
• J Ruiz Martínez, M Ruibal Salgado: [Fibromuscular dysplasia]. Neurologia (Barcelona, Spain) 02/1997; 12(1).
• A. Estanga, J. Ruiz-Martinez, A. Gorostidi, Ma C. Rodriguez-Oroz, J. F. Marti-Masso: Neuropsychological profile in LRRK2-R1441G associated Parkinson's disease. 16th International Congress of Parkinson's Disease and Movement; 06/2012
• A. Estanga, A. Bergareche, J. Ruiz-Martinez, A. Gorostidi, Ma C. Rodriguez-Oroz, J. F. Marti-Masso: Neuropsychological performance in asymptomatic LRRK2 mutation carriers (R1441G and G2019S). 16th International Congress of Parkinson's Disease and Movement; 06/2012
• J. Ruiz Martinez, M. J. Bolano, A. Gorostidi, J. J. Poza, C. Marras, A. J. Lopez de Munain, J. F. Marti Masso: Olfaction is less impaired in Parkinson's disease patients with LRRK2 mutations. 12th International Congress of Parkinsons Disease and Movement Disorders; 01/2008
• - Javier Ruiz-Martínez, Elisabet Mondragón, Irene Navalpotro, Alberto Bergareche, Maria Cruz Rodriguez-Oroz, José Félix Martí Massó: ¿Son la forma precoz y la de presentación tardía la misma enfermedad de Parkinson?. Revista Española de Trastornos del Movimiento. Febrero 2017
• - Javier Ruiz-Martínez, Luis J. Azcona, Alberto Bergareche, Jose F. Martí-Massó, Coro Paisán-Ruiz: Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease. 10/2017; 3(5):e177.
• Jesús Madero-Pérez, Elena Fdez, Belén Fernández, Antonio J. Lara Ordóñez, Marian Blanca Ramírez, Patricia Gómez-Suaga, Dieter Waschbüsch, Evy Lobbestael, Veerle Baekelandt, Angus C. Nairn, Javier Ruiz-Martínez, Ana Aiastui, Adolfo López de Munain, Pawel Lis, Thomas Comptdaer, Jean-Marc Taymans, Marie-Christine Chartier-Harlin, Alexandria Beilina, Adriano Gonnelli, Mark R. Cookson, Elisa Greggio, Sabine Hilfiker: Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation. Molecular Neurodegeneration 01/2018; 13(3).
• P J Garcia-Ruiz, P Sanz-Cartagena, J C Martinez-Castrillo, B Ares-Pensado, I Aviles-Olmos, M Blazquez-Estrada, S Fanjul-Arbos, J Garcia-Caldentey, J Gazulla, J Gutierrez-Garcia, B Huete-Anton, C Lucas-Rodenas, M R Luquin, I Martinez-Torres, P Medialdea-Natera, A Mendoza-Rodriguez, P Mir-Rivera, I J Posada, J Ruiz-Martinez, P Sanchez-Alonso, J M Trejo-Gabriel Y Galan, L Vela, J L Pena-Segura: Myths and evidence on the use of botulinum toxin: Neuropharmacology and dystonia. Revista de neurologia 03/2018; 66(5):163-172.
• Amaia Muñoz-Lopetegi, Francisco Javier López-González, Xiana Rodríguez-Osorio, Antonio Pato Pato, Paula Bellas Lamas, Javier Abella-Corral, María Dolores Castro Vilanova, María José Garea, Juan Antonio Gil López, Javier Ruiz-Martínez, Juan José Poza: LACONORTE study: Efficacy and security of lacosamide as first add-on therapy for focal-onset epilepsy in real-life setting. Epilepsy Research 05/2018; 145
• 79. Gema Esteban Bueno, Dyanne Ruiz-Castañeda, Javier Ruiz Martínez, Manuel Romero Muñoz, Pedro Carrillo Alascio: Natural history and clinical characteristics of 50 patients with Wolfram syndrome. Endocrine 05/2018; 61(s264).
• Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium. LRP10 in α-synucleinopathies. Lancet Neurol. 2018 Dec;17(12):1032.
• Bueno GE, Ruiz-Castañeda D, Ruiz-Martínez J, Muñoz MR, Alascio PC. Natural history and clinical characteristics of 50 patients with Wolfram syndrome. Endocrine. 2018 Sep;61(3):440-446.
• Delgado-Alvarado M, Dacosta-Aguayo R, Navalpotro-Gómez I, Gago B, Gorostidi A, Jiménez-Urbieta H, Quiroga-Varela A, Ruiz-Martínez J, Bergareche A, Rodríguez-Oroz MC. Ratios of proteins in cerebrospinal fluid in Parkinson's disease cognitive decline: prospective study. Mov Disord. 2018 Nov;33(11):1809-1813.
• 83. Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z; International Parkinson's Disease Genomic Consortium (IPDGC). Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease. J Med Genet. 2019 Nov 29.
• Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J,Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB; 23andMe Research Team; System Genomics of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium (IPDGC). Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 2019 Dec;18(12):1091-1102.
• Simuni T, Uribe L, Cho HR, Caspell-Garcia C, Coffey CS, Siderowf A, Trojanowski JQ, Shaw LM, Seibyl J, Singleton A, Toga AW, Galasko D, Foroud T, Tosun D, Poston K, Weintraub D, Mollenhauer B, Tanner CM, Kieburtz K, Chahine LM, Reimer A, Hutten SJ, Bressman S, Marek K; PPMI Investigators. Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study. Lancet Neurol. 2020 Jan;19(1):71-80
• Santos-García D, de Deus Fonticoba T, Suárez Castro E, Aneiros Díaz A, Paz González JM, Feal Panceiras MJ, García Sancho C, Jesús S, Mir P, Aguilar M, Pastor P, Hernández Vara J, de Fábregues-Boixar O, Puente V, Crespo Cuevas A, González-Aramburu I, Infante J, Carrillo Padilla F, Pueyo M, Escalante S, Bernardo N, Solano B, Cots Foraster A, Martinez-Martin P; COPPADIS Study Group. High ultrasensitive serum C-reactive protein may be related to freezing of gait in Parkinson's disease patients. J Neural Transm (Vienna). 2019 Dec;126(12):1599-1608
• Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL; American Genome Center, Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-Escrig A, Duarte J, Vives F, Duran R, Hoenicka J, Alvarez V, Infante J, Marti MJ, Clarimón J, López de Munain A, Pastor P, Mir P, Singleton A; International Parkinson Disease Genomics Consortium. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Mov Disord. 2019 Dec;34(12):1851-1863
• Santos García D, de Deus Fonticoba T, Suárez Castro E, Borrué C, Mata M, Solano Vila B, Cots Foraster A, Álvarez Sauco M, Rodríguez Pérez AB, Vela L, Macías Y, Escalante S, Esteve P, Reverté Villarroya S, Cubo E, Casas E, Arnaiz S, Carrillo Padilla F, Pueyo Morlans M, Mir P, Martinez-Martin P; Coppadis Study Group. Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort. Parkinsonism Relat Disord. 2019 Sep;66:151-157
• Agalliu I, Ortega RA, Luciano MS, Mirelman A, Pont-Sunyer C, Brockmann K, Vilas D, Tolosa E, Berg D, Warø B, Glickman A, Raymond D, Inzelberg R, Ruiz-Martinez J, Mondragon E, Friedman E, Hassin-Baer S, Alcalay RN, Mejia-Santana H, Aasly J, Foroud T, Marder K, Giladi N, Bressman S, Saunders-Pullman R. Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls. Mov Disord. 2019 Sep;34(9):1392-1398
• Santos García D, Jesús S, Aguilar M, Planellas LL, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Catalán MJ, López Díaz L, Puente V, García Moreno JM, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Carrillo Padilla F, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Menéndez González M, Seijo M, Ruiz Martínez J, Valero C, Kurtis M, de Fábregues-Boixar O, González Ardura J, Prieto Jurczynska C, Martinez-Martin P, Mir P; COPPADIS Study Group. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation. Eur J Neurol. 2019 Nov;26(11):1399-1407
• Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson's Disease Study Group. Using global team science to identify genetic Parkinson's disease worldwide. Ann Neurol. 2019 Aug;86(2):153-157
• Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A; International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M, Koks S. Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. NPJ Parkinsons Dis. 2019 May 22;5:8
• Reynolds RH, Botía J, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); System Genomics of Parkinson’s Disease (SGPD), Hardy J, Gagliano Taliun SA, Ryten M. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability. NPJ Parkinsons Dis. 2019 Apr 17;5:6
• Simuni T,Uribe L,Cho HR,Caspell C,Coffey CS,Siderowf A,Trojanowski JQ,Shaw LM,Seibyl J,Singleton A,Toga AW,Galasko D,Foroud T,Tosun D,Poston K,Weintraub D,Mollenhauer B,Tanner CM,Kieburtz K,Chahine LM,Reimer A,Hutten SJ,Bressman S,Marek K,PPMI I,Croitoru I,Ruiz J. Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study.. Lancet Neurol. 2020. 19.(1).:71-80.

...

 Premios y reconocimientos

• Premio Extraordinario de Tesis Doctoral (Universidad del País Vasco, edición 2015)
• Premio MEDIKER, (comisión de Docencia de Hospital Ntra. Sra. De Aranzazu) Premio al mejor trabajo ciéntifico o publicación, para residentes de medicina. Área de Guipúzcoa. 1997
• Premio Novartis de la Sociedad Española de Neurología a la mejor publicación en trastornos del movimiento 2010.
• Beca de Intensificación para investigación 2008-2010. Centro de Investigación en red para enfermedades neurodegenerativas (CIBERNED). Instituto de Investigación Carlos III.

...

 Miembro de asociaciones médicas privadas

• Miembro de la Sociedad Española de Neurología (enero 1995 - actualidad)
• Miembro de la Sociedad de Neurología del País Vasco / Euskal Herriko Neurologi Elkartea (enero 1995 - actualidad)
• Vicepresidente de la Sociedad de Neurología del País Vasco / Euskal Herriko Neurologi Elkartea (actual)

...