Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques
Simón-Sánchez, Javier, Martí-Massó, José-Félix, Sánchez-Mut, José Vicente, Paisán-Ruiz, Coro, Martínez-Gil, Angel, Ruiz-Martínez, Javier, Sáenz, Amets, Singleton, Andrew B., López de Munain, Adolfo, Pérez-Tur, Jordi
Published in Movement disorders (01.11.2006)
Published in Movement disorders (01.11.2006)
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Journal Article
Neurogenetic Disorders in the Basque Population
Massó, José Félix Martí, Zarranz, Juan José, Otaegui, David, López de Munain, Adolfo
Published in Annals of human genetics (01.01.2015)
Published in Annals of human genetics (01.01.2015)
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Journal Article
Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening
Clarimón, Jordi, Pagonabarraga, Javier, Paisán-Ruíz, Coro, Campolongo, Antonia, Pascual-Sedano, Berta, Martí-Massó, José-Félix, Singleton, Andrew B., Kulisevsky, Jaime
Published in Movement disorders (15.03.2008)
Published in Movement disorders (15.03.2008)
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Journal Article
Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings
López de Munain, Adolfo, Alzualde, Ainhoa, Gorostidi, Ana, Otaegui, David, Ruiz-Martínez, Javier, Indakoetxea, Begoña, Ferrer, Isidro, Pérez-Tur, Jordi, Sáenz, Amets, Bergareche, Alberto, Barandiarán, Miriam, Poza, Juan José, Zabalza, Ramón, Ruiz, Irune, Urtasun, Miguel, Fernández-Manchola, Iñaki, Olasagasti, Bixen, Espinal, Juan Bautista, Olaskoaga, Javier, Ruibal, Marta, Moreno, Fermin, Carrera, Nieves, Massó, José Félix Martí
Published in Biological psychiatry (1969) (15.05.2008)
Published in Biological psychiatry (1969) (15.05.2008)
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Journal Article
The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: Clinical and demographic characteristics
Gatto, Emilia Mabel, Parisi, Virginia, Converso, Daniela Paola, Poderoso, Juan José, Carreras, María Cecilia, Martí-Massó, José Felix, Paisán-Ruiz, Coro
Published in Neuroscience letters (14.03.2013)
Published in Neuroscience letters (14.03.2013)
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Journal Article
Analysis of Fine Motor Skills in Essential Tremor: Combining Neuroimaging and Handwriting Biomarkers for Early Management
Lopez-de-Ipina, Karmele, Solé-Casals, Jordi, Sánchez-Méndez, José Ignacio, Romero-Garcia, Rafael, Fernandez, Elsa, Requejo, Catalina, Poologaindran, Anujan, Faúndez-Zanuy, Marcos, Martí-Massó, José Félix, Bergareche, Alberto, Suckling, John
Published in Frontiers in human neuroscience (08.06.2021)
Published in Frontiers in human neuroscience (08.06.2021)
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Journal Article
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism
Martí-Massó, Jose Felix, Bergareche, Alberto, Makarov, Vladimir, Ruiz-Martinez, Javier, Gorostidi, Ana, de Munain, Adolfo López, Poza, Juan Jose, Striano, Pasquale, Buxbaum, Joseph D., Paisán-Ruiz, Coro
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2013)
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2013)
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Journal Article
Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers
Barandiaran, Myriam, Estanga, Ainara, Moreno, Fermín, Indakoetxea, Begoña, Alzualde, Ainhoa, Balluerka, Nekane, Martí Massó, José Félix, de Munain, Adolfo López
Published in Journal of the International Neuropsychological Society (01.11.2012)
Published in Journal of the International Neuropsychological Society (01.11.2012)
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Journal Article
DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease
Bergareche, Alberto, Rodríguez-Oroz, Maria Cruz, Estanga, Ainara, Gorostidi, Ana, López de Munain, Adolfo, Castillo-Triviño, Tamara, Ruiz-Martínez, Javier, Mondragón, Elisabet, Gaig, Carles, Lomeña, Francisco, Sarasqueta, Cristina, Tolosa, Eduardo, Martí-Massó, José Félix
Published in Movement disorders (01.03.2016)
Published in Movement disorders (01.03.2016)
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Journal Article
Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels
Gorostidi, Ana, Martí-Massó, José Félix, Bergareche, Alberto, Rodríguez-Oroz, Mari Cruz, López de Munain, Adolfo, Ruiz-Martínez, Javier
Published in Molecular diagnosis & therapy (01.10.2016)
Published in Molecular diagnosis & therapy (01.10.2016)
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Journal Article
Trimetazidine induces parkinsonism, gait disorders and tremor
Martí Massó, José-Félix, Martí, Itxaso, Carrera, Nieves, Poza, Juan-José, López de Munain, Adolfo
Published in Therapie (01.07.2005)
Published in Therapie (01.07.2005)
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Journal Article
Congenital Spinal Malformation and Stroke: Aneurysmal Dilatations and Bilateral Rotational Vertebral Artery Occlusion
de la Riva, Patricia, MD, Martínez-Zabaleta, Maria Teresa, MD, Pardo, Edurne, MD, Samprón, Nicolás, PhD, Mondragón-Rezola, Elisabet, MD, Arruti González, Maialen, MD, Larrea, Jose Ángel, MD, Martí-Massó, José Félix, PhD
Published in Journal of stroke and cerebrovascular diseases (01.03.2016)
Published in Journal of stroke and cerebrovascular diseases (01.03.2016)
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Journal Article
The Discovery of the Dardarin Gene 15 Years Later: A Globalized Local History
López de Munain, Adolfo, Martí Massó, José Félix, Pérez Tur, Jordi
Published in Movement disorders (01.04.2020)
Published in Movement disorders (01.04.2020)
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Journal Article
Genetic variation in α-synuclein kinases (CK-2β and GRK-5) and risk of Parkinson’s disease
García-Gorostiaga, Inés, Sierra, María, Sánchez-Juan, Pascual, Ruiz-Martínez, Javier, Gorostidi, Ana, González-Aramburu, Isabel, Martí-Massó, José Félix, Berciano, José, Combarros, Onofre, Infante, Jon
Published in Parkinsonism & related disorders (01.07.2011)
Published in Parkinsonism & related disorders (01.07.2011)
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Journal Article
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
Paisán-Ruı́z, Coro, Jain, Shushant, Evans, E.Whitney, Gilks, William P., Simón, Javier, van der Brug, Marcel, de Munain, Adolfo López, Aparicio, Silvia, Gil, Angel Martı́nez, Khan, Naheed, Johnson, Janel, Martinez, Javier Ruiz, Nicholl, David, Carrera, Itxaso Marti, Peňa, Amets Saénz, de Silva, Rohan, Lees, Andrew, Martı́-Massó, José Félix, Pérez-Tur, Jordi, Wood, Nick W., Singleton, Andrew B.
Published in Neuron (Cambridge, Mass.) (18.11.2004)
Published in Neuron (Cambridge, Mass.) (18.11.2004)
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Journal Article
DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2R1441G Parkinson's disease
Bergareche, Alberto, Rodriguez-Oroz, Maria Cruz, Estanga, Ainara, Gorostidi, Ana, Lopez de Munain, Adolfo, Castillo-Trivino, Tamara, Ruiz-Martinez, Javier, Mondragon, Elisabet, Gaig, Carles, Lomena, Francisco, Sarasqueta, Cristina, Tolosa, Eduardo, Marti-Masso, José Félix
Published in Movement disorders (01.03.2016)
Published in Movement disorders (01.03.2016)
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Journal Article
Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation
Manzoni, Claudia, Mamais, Adamantios, Dihanich, Sybille, McGoldrick, Phillip, Devine, Michael J., Zerle, Julia, Kara, Eleanna, Taanman, Jan-Willem, Healy, Daniel G., Marti-Masso, Jose-Felix, Schapira, Anthony H., Plun-Favreau, Helene, Tooze, Sharon, Hardy, John, Bandopadhyay, Rina, Lewis, Patrick A.
Published in Biochemical and biophysical research communications (29.11.2013)
Published in Biochemical and biophysical research communications (29.11.2013)
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