Search Results - "MASSO, F"

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1 by Sistiaga, A, Urreta, I, Jodar, M, Cobo, A M, Emparanza, J, Otaegui, D, Poza, J J, Merino, J J, Imaz, H, Martí-Massó, J F, López de Munain, A

“…Although central nervous system (CNS) involvement in adult myotonic dystrophy type 1 (DM1) was described long ago, the large number of variables affecting the…”
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Inflammatory profile discriminates clinical subtypes in LRRK2‐associated Parkinson's disease by Brockmann, K., Schulte, C., Schneiderhan‐Marra, N., Apel, A., Pont‐Sunyer, C., Vilas, D., Ruiz‐Martinez, J., Langkamp, M., Corvol, J.‐C., Cormier, F., Knorpp, T., Joos, T. O., Bernard, A., Gasser, T., Marras, C., Schüle, B., Aasly, J. O., Foroud, T., Marti‐Masso, J. F., Brice, A., Tolosa, E., Berg, D., Maetzler, W.

“…Background and purpose The presentation of Parkinson's disease patients with mutations in the LRRK2 gene (PDLRRK2) is highly variable, suggesting a strong…”
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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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THE EFFECT OF GROWTH DIFFERENTIATION FACTOR 11 (GDF11) ON THE RESPONSE OF TUMOR-ASSOCIATED MACROPHAGES IN HEPATOCELLULAR CARCINOMA DERIVED CELLS by Escobedo-Calvario, A., Chávez-Rodríguez, L., Souza, V., Labra, R.U. Miranda, Masso, F., Páez-Arenas, A., Hernández-Pando, R., Gómez-Quiroz, L.E., Gutiérrez-Ruíz, María C.

“…Hepatocellular carcinoma (HCC) is the most common and aggressive form of liver cancer. Until 2020, worldwide, it has been ranked 5th and 3rd in terms of…”
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FRUCTOSE DIET INDUCES A METABOLIC REPROGRAMMING TO ENHANCE TUMOR AGGRESSIVENESS by Chávez-Rodríguez, L., Escobedo-Calvario, A., Simoni-Nieves, A., Bucio, L., Souza, V., Labra, R.U. Miranda, Enriquez-Cortina, G.C., Masso, F., Arenas, A. Páez, Calvisi, D.F., Gutiérrez-Ruíz, M.C., Gómez-Quiroz, L.E.

“…HCC is one of the main causes of cancer-related death worldwide and has third place in mortality. One of the main risk factors is metabolic-associated fatty…”
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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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Frontotemporoparietal dementia: Clinical phenotype associated with the c.709-1G>A PGRN mutation by MORENO, F, INDAKOETXEA, B, LOPEZ DE MUNAIN, A, BARANDIARAN, M, ALZUALDE, A, GABILONDO, A, ESTANGA, A, RUIZ, J, RUIBAL, M, BERGARECHE, A, MARTI-MASSO, J. F

“…Mutations in the progranulin gene (PGRN) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal inclusions…”
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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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HUVECs from newborns with a strong family history of myocardial infarction overexpress adhesion molecules and react abnormally to stimulating agents by Paez, A., Méndez‐Cruz, A. R., Varela, E., Rodriguez, E., Guevara, J., Flores‐Romo, L., Montaño, L. F., Massó, F. A.

“…Summary Atherosclerosis is a complex disease involved in major fatal events such as myocardial infarction and stroke. It is the result of interactions between…”
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Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients by Otaegui, D, Zuriarrain, O, Castillo-Triviño, T, Aransay, AM, Ruíz-Martinez, J, Olaskoaga, J, Marti-Masso, JF, Lopez de Munain, A

“…Background Synapsins are a family of neuron-specific phosphoproteins, one of whose subunits is encoded by the SYN3 gene. This gene is located close to one of…”
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The altered expression of inflammation-related molecules and secretion of IL-6 and IL-8 by HUVEC from newborns with maternal inactive systemic lupus erythematosus is modified by estrogens by Rodriguez, E, Guevara, J, Paez, A, Zapata, E, Collados, MT, Fortoul, TI, Lopez-Marure, R, Masso, F, Montaño, LF

“…Systemic lupus erythematosus (SLE) predominantly affects women, especially those in reproductive age. Genetic contributions to disease susceptibility as well…”
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Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis : A report of 50 cases by GOMEZ-ARANDA, F, CANADILLAS, F, MARTI-MASSO, J. F, DIEZ-TEJEDOR, E, SERRANO, P. J, LEIRA, R, GRACIA, M, PASCUAL, J

“…This is the first large series, comprising 50 patients who suffered a total of 164 episodes, of pseudomigraine with temporary neurological symptoms and…”
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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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Vanadium pentoxide inhalation provokes germinal center hyperplasia and suppressed humoral immune responses by Pinon-Zarate, G, Rodriguez-Lara, V, Rojas-Lemus, M, Martinez-Pedraza, M, Gonzalez-Villalva, A, Mussali-Galante, P, Fortoul, T I, Barquet, A, Masso, F, Montano, L F

“…Vanadium, an important air pollutant derived from fuel product combustion, aggravates respiratory diseases and impairs cardiovascular function. In contrast,…”
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Cabergoline in the treatment of early Parkinson's disease : Results of the first year of treatment in a double-blind comparison of cabergoline and levodopa by RINNE, U. K, BRACCO, F, GRIMALDI, R, CHOUZA, C, DUPONT, E, GERSHANIK, O, MARTI MASSO, J. F, MONTASTRUC, J. L, MARSDEN, C. D, DUBINI, A, ORLANDO, N

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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease by 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.

“…Parkinson's disease (PD; OMIM #168600) is the second most common neurodegenerative disorder in the Western world and presents as a progressive movement…”
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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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Intramedullary spinal sarcoidosis : clinical and magnetic resonance imaging characteristics by JUNGER, S. S, STERN, B. J, LEVINE, S. R, SIPOS, E, MARTI-MASSO, J. F

“…We present a retrospective series of the clinical and MRI findings in 16 patients with intramedullary spinal sarcoidosis (ISS), including 12 patients studied…”
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