Search Results - "Martí Massó, José F."

Tau/α‐synuclein ratio and inflammatory proteins in Parkinson's disease: An exploratory study by Delgado‐Alvarado, Manuel, Gago, Belén, Gorostidi, Ana, Jiménez‐Urbieta, Haritz, Dacosta‐Aguayo, Rosalía, Navalpotro‐Gómez, Irene, Ruiz‐Martínez, Javier, Bergareche, Alberto, Martí‐Massó, José F., Martínez‐Lage, Pablo, Izagirre, Andrea, Rodríguez‐Oroz, María C.

“…ABSTRACT Background: No CSF or plasma biomarker has been validated for diagnosis or progression of PD. Objectives: To assess whether the CSF and plasma levels…”
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α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers by Gorostidi, Ana, Bergareche, Alberto, Ruiz-Martínez, Javier, Martí-Massó, José F., Cruz, María, Varghese, Shiji, Qureshi, Mohamed M., Alzahmi, Fatimah, Al-Hayani, Abdulmonem, de Munáin, Adolfo López, El-Agnaf, Omar M.A.

“…The diagnosis of Parkinson’s disease (PD) remains primarily a clinical issue, based mainly on phenotypic patterns. The identification of biomarkers capable of…”
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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy by Morante-Redolat, José M., Gorostidi-Pagola, Ana, Piquer-Sirerol, Salomé, Sáenz, Amets, Poza, Juan J., Galán, Juan, Gesk, Stefan, Sarafidou, Theologia, Mautner, Victor-F., Binelli, Simona, Staub, Eike, Hinzmann, Bernd, French, Lisa, Prud'homme, Jean-F., Passarelli, Daniela, Scannapieco, Paolo, Tassinari, Carlo A., Avanzini, Giuliano, Martí-Massó, José F., Kluwe, Lan, Deloukas, Panagiotis, Moschonas, Nicholas K., Michelucci, Roberto, Siebert, Reiner, Nobile, Carlo, Pérez-Tur, Jordi, López de Munain, Adolfo

“…Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs…”
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Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation by Moreno, Fermín, Alzualde, Ainhoa, Camblor, Pablo Martínez, Barandiaran, Myriam, Van Deerlin, Vivianna M, Gabilondo, Alazne, Martí Massó, José F, López de Munain, Adolfo, Indakoetxea, Begoña

“…Frontotemporal lobar degeneration because of mutations in the progranulin (PGRN) gene presents a high variability both in the clinical phenotype and age of…”
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Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations by Ruiz-Martínez, Javier, Gorostidi, Ana, Goyenechea, Estibaliz, Alzualde, Ainhoa, Poza, Juan José, Rodríguez, Francisco, Bergareche, Alberto, Moreno, Fermín, López de Munain, Adolfo, Martí Massó, José F.

“…It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor…”
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Response to treatment with corticoids in a case of inflammatory amyloid angiopathy without performing a biopsy by de la Riva, Patricia, Moreno, Fermín, Carrera, Nieves, Barandiarán, Myriam, Arruti, Maialen, Martí-Massó, José F

“…Inflammatory amyloid angiopathy (IAA) is an infrequent presenting symptom of the recently recognised cerebral amyloid angiopathy and its definitive diagnosis…”
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Cinnarizine-induced parkinsonism: Ten years later by Martí-Massó, José F., Poza, Juan J.

“…A retrospective study was carried out to investigate the evolution of patients diagnosed with cinnarizineinduced parkinsonism (CIP) over the past 15 years. A…”
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Familial prion diseases in the Basque Country (Spain) by Zarranz, Juan J, Digon, Anton, Atarés, Begoña, Arteagoitia, José M, Carrera, Nieves, Fernández-Manchola, Iñaki, Fernández-Martínez, Manuel, Fernández-Maiztegui, Covadonga, Forcadas, Isabel, Galdos, Luis, Ibáñez, Agustín, Lezcano, Elena, Martí-Massó, José F, Mendibe, María M, Urtasun, Miguel, Uterga, Juan M, Saracibar, Nieves, Velasco, Fernando, González de Galdeano, Luis

“…In 1995, a surveillance system for prion diseases was set up in the Basque Country, an autonomous region in northern Spain (2.1 million inhabitants). In the…”
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Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease by Ruiz-Martínez, Javier, Azcona, Luis J, Bergareche, Alberto, Martí-Massó, Jose F, Paisán-Ruiz, Coro

“…Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene…”
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Αlpha-synuclein levels in blood plasma from LRRK2 mutation carriers by Gorostidi, Ana, Bergareche, Alberto, Ruiz-Martínez, Javier, Martí-Massó, José F, Cruz, María, Varghese, Shiji, Qureshi, Mohamed M, Alzahmi, Fatimah, Al-Hayani, Abdulmonem, López de Munáin, Adolfo, El-Agnaf, Omar M A

“…The diagnosis of Parkinson's disease (PD) remains primarily a clinical issue, based mainly on phenotypic patterns. The identification of biomarkers capable of…”
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The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics by 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

“…The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia…”
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Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2 by 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.

“…ABSTRACT An inverse relationship between Parkinson's disease (PD) and cancer has been described. However, the association between cancers and genetic forms of…”
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Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain) by 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

“…The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic…”
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Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia by Paisán-Ruiz, Coro, Ruiz-Martinez, Javier, Ruibal, Marta, Mok, Kin Y., Indakoetxea, Begona, Gorostidi, Ana, Massó, José F. Martí

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Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers by Gorostidi, Ana, Bergareche, Alberto, Ruiz-Martínez, Javier, Martí-Massó, José F, Cruz, María, Varghese, Shiji, Qureshi, Mohamed M, Alzahmi, Fatimah, Al-Hayani, Abdulmonem, de Munáin, Adolfo López, El-Agnaf, Omar M.A

“…The diagnosis of Parkinson's disease (PD) remains primarily a clinical issue, based mainly on phenotypic patterns. The identification of biomarkers capable of…”
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Familial Parkinson's disease: Clinical and genetic analysis of four Basque families by Paisàn-Ruìz, Coro, Sàenz, Amets, de Munain, Adolfo Lòpez, Martì, Itxaso, Martìnez Gil, Angel, Martì-Massò, Josè F., Pèrez-Tur, Jordi

“…During the last few years several loci have been linked to Mendelian forms of Parkinson's disease (PD). To date, 5 causative genes of 10 identified loci are…”
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Olfactory deficits and cardiac 123 I‐MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations by Ruiz‐Martínez, Javier, Gorostidi, Ana, Goyenechea, Estibaliz, Alzualde, Ainhoa, Poza, Juan José, Rodríguez, Francisco, Bergareche, Alberto, Moreno, Fermín, López de Munain, Adolfo, Martí Massó, José F.

“…It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor…”
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High-dose intravenous immune globulin in the management of severe Guillain-Barre syndrome by Urtasun, M, López de Munain, A, Carrera, N, Martí-Massó, J F, López de Dicastillo, G, Mozo, C

“…To evaluate the efficacy of high-dose intravenous gammaglobulin (IGIV) versus plasmapheresis in patients with severe Guillain-Barré syndrome (GBS) and compare…”
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Rombencefalitis y endocarditis por Listeria monocytogenes : una asociación no descrita by Tainta Cuezva, Mikel, de la Riva Juez, Patricia, González, Félix, Martí Massó, José Félix, Goenaga, Miguel Ángel

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Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease by 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

“…Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of…”
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