The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics
Moreno, Fermin, Indakoetxea, Begoña, Barandiaran, Myriam, Caballero, María Cristina, Gorostidi, Ana, Calafell, Francesc, Gabilondo, Alazne, Tainta, Mikel, Zulaica, Miren, Martí Massó, José F, López de Munain, Adolfo, Sánchez-Juan, Pascual, Lee, Suzee E
Published in PloS one (08.06.2017)
Published in PloS one (08.06.2017)
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Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2
Ruiz-Martínez, Javier, de la Riva, Patricia, Rodríguez-Oroz, Maria C., Mondragón Rezola, Elisabet, Bergareche, Alberto, Gorostidi, Ana, Gago, Belen, Estanga, Ainara, Larrañaga, Nerea, Sarasqueta, Cristina, López de Munain, Adolfo, Martí Massó, José F.
Published in Movement disorders (01.05.2014)
Published in Movement disorders (01.05.2014)
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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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Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)
Ruiz-Martínez, Javier, Gorostidi, Ana, Ibañez, Berta, Alzualde, Ainhoa, Otaegui, David, Moreno, Fermin, de Munain, Adolfo López, Bergareche, Alberto, Gómez-Esteban, Juan Carlos, Massó, José F. Martí
Published in Movement disorders (30.10.2010)
Published in Movement disorders (30.10.2010)
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Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia
Paisán-Ruiz, Coro, Ruiz-Martinez, Javier, Ruibal, Marta, Mok, Kin Y., Indakoetxea, Begona, Gorostidi, Ana, Massó, José F. Martí
Published in Movement disorders (15.12.2009)
Published in Movement disorders (15.12.2009)
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Distinctive age-related temporal cortical thinning in asymptomatic granulin gene mutation carriers
Moreno, Fermín, Sala-Llonch, Roser, Barandiaran, Myriam, Sánchez-Valle, Raquel, Estanga, Ainara, Bartrés-Faz, David, Sistiaga, Andone, Alzualde, Ainhoa, Fernández, Esther, Martí Massó, José Félix, López de Munain, Adolfo, Indakoetxea, Begoña
Published in Neurobiology of aging (01.05.2013)
Published in Neurobiology of aging (01.05.2013)
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Selection of Entropy Based Features for Automatic Analysis of Essential Tremor
López-de-Ipiña, Karmele, Solé-Casals, Jordi, Faundez-Zanuy, Marcos, Calvo, Pilar, Sesa, Enric, Martinez de Lizarduy, Unai, De La Riva, Patricia, Marti-Masso, Jose, Beitia, Blanca, Bergareche, Alberto
Published in Entropy (Basel, Switzerland) (01.05.2016)
Published in Entropy (Basel, Switzerland) (01.05.2016)
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Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease
Kalia, Lorraine V, Lang, Anthony E, Hazrati, Lili-Naz, Fujioka, Shinsuke, Wszolek, Zbigniew K, Dickson, Dennis W, Ross, Owen A, Van Deerlin, Vivianna M, Trojanowski, John Q, Hurtig, Howard I, Alcalay, Roy N, Marder, Karen S, Clark, Lorraine N, Gaig, Carles, Tolosa, Eduardo, Ruiz-Martínez, Javier, Marti-Masso, Jose F, Ferrer, Isidre, López de Munain, Adolfo, Goldman, Samuel M, Schüle, Birgitt, Langston, J William, Aasly, Jan O, Giordana, Maria T, Bonifati, Vincenzo, Puschmann, Andreas, Canesi, Margherita, Pezzoli, Gianni, Maues De Paula, Andre, Hasegawa, Kazuko, Duyckaerts, Charles, Brice, Alexis, Stoessl, A Jon, Marras, Connie
Published in JAMA neurology (01.01.2015)
Published in JAMA neurology (01.01.2015)
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Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis
Agalliu, Ilir, San Luciano, Marta, Mirelman, Anat, Giladi, Nir, Waro, Bjorg, Aasly, Jan, Inzelberg, Rivka, Hassin-Baer, Sharon, Friedman, Eitan, Ruiz-Martinez, Javier, Marti-Masso, Jose Felix, Orr-Urtreger, Avi, Bressman, Susan, Saunders-Pullman, Rachel
Published in JAMA neurology (01.01.2015)
Published in JAMA neurology (01.01.2015)
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Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue
Devine, Michael J, Kaganovich, Alice, Ryten, Mina, Mamais, Adamantios, Trabzuni, Daniah, Manzoni, Claudia, McGoldrick, Philip, Chan, Diane, Dillman, Allissa, Zerle, Julia, Horan, Susannah, Taanman, Jan-Willem, Hardy, John, Marti-Masso, Jose-Felix, Healy, Daniel, Healey, Daniel, Schapira, Anthony H, Wolozin, Benjamin, Bandopadhyay, Rina, Cookson, Mark R, van der Brug, Marcel P, Lewis, Patrick A
Published in PloS one (22.07.2011)
Published in PloS one (22.07.2011)
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SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy
Bergareche, Alberto, Bednarz, Marcin, Sánchez, Elena, Krebs, Catharine E, Ruiz-Martinez, Javier, De La Riva, Patricia, Makarov, Vladimir, Gorostidi, Ana, Jurkat-Rott, Karin, Marti-Masso, Jose Felix, Paisán-Ruiz, Coro
Published in Human molecular genetics (15.12.2015)
Published in Human molecular genetics (15.12.2015)
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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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Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations
Tijero, Beatriz, Gabilondo, Iñigo, Lezcano, Elena, Teran-Villagrá, Nuria, Llorens, Verónica, Ruiz-Martinez, Javier, Marti-Masso, Jose Felix, Carmona, M, Luquin, Maria Rosario, Berganzo, Koldo, Fernandez, Ivan, Fernandez, Manuel, Zarranz, Juan José, Gómez-Esteban, Juan Carlos
Published in Parkinsonism & related disorders (01.07.2015)
Published in Parkinsonism & related disorders (01.07.2015)
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Inflammatory profile in LRRK2-associated prodromal and clinical PD
Brockmann, Kathrin, Apel, Anja, Schulte, Claudia, Schneiderhan-Marra, Nicole, Pont-Sunyer, Claustre, Vilas, Dolores, Ruiz-Martinez, Javier, Langkamp, Markus, Corvol, Jean-Christophe, Cormier, Florence, Knorpp, Thomas, Joos, Thomas O, Gasser, Thomas, Schüle, Birgitt, Aasly, Jan O, Foroud, Tatiana, Marti-Masso, Jose Felix, Brice, Alexis, Tolosa, Eduardo, Marras, Connie, Berg, Daniela, Maetzler, Walter
Published in Journal of neuroinflammation (24.05.2016)
Published in Journal of neuroinflammation (24.05.2016)
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Relationship between the efficacy of rivastigmine and apolipoprotein E (epsilon4) in patients with mild to moderately severe Alzheimer disease
Blesa, Rafael, Aguilar, Miquel, Casanova, Jordi Peña, Boada, Mercé, Martínez, Sergi, Alom, Jordi, de la Hoz, Carlos Hernández, Sancho, Jerónimo, Fernández, Oscar, Gil-Neciga, Eulogio, Massó, Jose Félix Martí
Published in Alzheimer disease and associated disorders (01.10.2006)
Published in Alzheimer disease and associated disorders (01.10.2006)
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Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants
Alcalay, Roy N, Aasly, Jan, Berg, Daniela, Bressman, Susan, Brice, Alexis, Brockmann, Kathrin, Chan, Piu, Clark, Lorraine, Cormier, Florence, Corvol, Jean-Christophe, Durr, Alexandra, Facheris, Maurizio, Farrer, Matthew, Foroud, Tatiana M, Gasser, Thomas, Giladi, Nir, Halter, Cheryl, Lang, Anthony, Langston, J William, Marras, Connie, Marti-Masso, Jose-Felix, Ruiz Martinez, Javier, Mejia-Santana, Helen, Mirelman, Anat, Pont-Sunyer, Claustre, Orr-Urtreger, Avi, Raymond, Deborah, Saunders-Pullman, Rachel, Schüle, Birgitt, Tanner, Caroline, Tolosa, Eduardo, Urkowitz, Alison, Vilas, Dolores, Wise, Adina, Marder, Karen
Published in Genetics in medicine (01.08.2014)
Published in Genetics in medicine (01.08.2014)
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The long-acting dopamine receptor agonist Cabergoline in early Parkinson's disease: Final results of a 5-year, double-blind, levodopa-controlled study
BRACCO, Fulvio, BATTAGLIA, Angelo, CHOUZA, Carlos, DUPONT, Erik, GERSHANIK, Oscar, MASSO, Jose Felix, MONTASTRUC, Jean-Louis
Published in CNS drugs (01.01.2004)
Published in CNS drugs (01.01.2004)
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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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Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue
Devine, Michael J., Kaganovich, Alice, Ryten, Mina, Mamais, Adamantios, Trabzuni, Daniah, Manzoni, Claudia, McGoldrick, Philip, Chan, Diane, Dillman, Allissa, Zerle, Julia, Horan, Susannah, Taanman, Jan-Willem, Hardy, John, Marti-Masso, Jose-Felix, Healy, Daniel, Schapira, Anthony H., Wolozin, Benjamin, Bandopadhyay, Rina, Cookson, Mark R., van der Brug, Marcel P., Lewis, Patrick A.
Published in PloS one (01.01.2012)
Published in PloS one (01.01.2012)
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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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