Search Results - "Alzualde, A."

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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LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity by Gorostidi, A., Ruiz-Martínez, J., Lopez de Munain, A., Alzualde, A., Martí Massó, J. F.

“…Mutations in LRRK2 gene are the most frequent cause of Parkinson’s disease (PD) described, but their prevalence varies between populations. Patients, 418, with…”
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Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene by Alzualde, A., Moreno, F., Martínez-Lage, P., Ferrer, I., Gorostidi, A., Otaegui, D., Blázquez, L., Atares, B., Cardoso, S., Martínez de Pancorbo, M., Juste, R., Rodríguez-Martínez, A.B., Indakoetxea, B., de Munain, A. López

“…Transmissible spongiform encephalopathies (TSEs) are a group of rare fatal neurodegenerative disorders. Creutzfeldt‐Jakob disease (CJD) represents the most…”
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Temporal Mitochondrial DNA Variation in the Basque Country: Influence of Post‐Neolithic Events by Alzualde, A., Izagirre, N., Alonso, S., Alonso, A., De La Rúa, C.

“…Summary The Basque population has been considered an outlier in a large number of genetic studies, due to its hypothesized antiquity and greater genetic…”
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Influences of the European Kingdoms of Late Antiquity on the Basque Country: An Ancient‐DNA Study by Alzualde, A., Izagirre, N., Alonso, S., Rivera, N., Alonso, A., Azkarate, A., de la Rúa, C.

“…The Aldaieta cemetery (6th–7th century AD, Basque Country) provides an excellent opportunity for analysing the relationships between biology and culture…”
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P22-14: Towards developing a harmonized experimental protocol of embryonic zebrafish light/dark transition behavior test for Organisation for Economic Co-operation and Development (OECD) Developmental Neurotoxicity (DNT) In-Vitro Testing Battery by Sanz, C. Miguel, Schiavone, V., Ibarra, J., Di Donato, V., Truong, L., Tanguay, R., Hsieh, J.-H., Ryan, K., Ellis, L., Martinez, B. Molina, Del Pozo, A., Alzualde, A., Muriana, A., Kluver, N., Behl, M., Woodland, C., Sachana, M., Hessel, E.

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P17-22 Zebrafish, a novel key player for human risk assessment: latest advances on developmental neurotoxicity from an international consortium by Sanz, C. Miguel, Ibarra, J., Rubbini, D., Hsieh, J.-H., Ellis, L., Alzualde, A., Truong, L., Kluver, N., Muriana, A., Ryan, K., Behl, M., Molina, B., Legradi, J., Padilla, S., Woodland, C., Tanguay, R., Hill, B., Shafer, T., Sachana, M., Terriente, J., Di Donato, V., Schiavone, V., Hessel, E.

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A Novel PRNP Y218N Mutation in Gerstmann-Sträussler-Scheinker Disease With Neurofibrillary Degeneration by Alzualde, Ainhoa, Indakoetxea, Begoña, Ferrer, Isidre, Moreno, Fermin, Barandiaran, Myriam, Gorostidi, Ana, Estanga, Ainara, Ruiz, Irune, Calero, Miguel, van Leeuwen, Fred W, Atares, Begoña, Juste, Ramón, Rodriguez-Martínez, Ana Belén, López de Munain, Adolfo

“…Gerstmann-Sträussler-Scheinker (GSS) disease is a prion disease associated with prion protein gene (PRNP) mutations. We report a novel PRNP mutation (Y218N)…”
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"Frontotemporoparietal" dementia: Clinical phenotype associated with the c.709-lG>A PGRN mutation by Moreno, F, Indakoetxea, B, Barandiaran, M, Alzualde, A, Gabilondo, A, Estanga, A, Ruiz, J, Ruibal, M, Bergareche, A, Marti-Masso, J F, de Munain, AL

“…Background: Mutations in the progranulin gene (PGRN) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal…”
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Influences of the European Kingdoms of Late Antiquity on the Basque Country by Alzualde, A., Izagirre, N., Alonso, S., Rivera, N., Alonso, A., Azkarate, A., de la Rúa, C.

“…The Aldaieta cemetery (6th-7th century AD, Basque Country) provides an excellent opportunity for analysing the relationships between biology and culture…”
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Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration by Chen-Plotkin, Alice S, Martinez-Lage, Maria, Sleiman, Patrick M A, Hu, William, Greene, Robert, Wood, Elisabeth McCarty, Bing, Shaoxu, Grossman, Murray, Schellenberg, Gerard D, Hatanpaa, Kimmo J, Weiner, Myron F, White, 3rd, Charles L, Brooks, William S, Halliday, Glenda M, Kril, Jillian J, Gearing, Marla, Beach, Thomas G, Graff-Radford, Neill R, Dickson, Dennis W, Rademakers, Rosa, Boeve, Bradley F, Pickering-Brown, Stuart M, Snowden, Julie, van Swieten, John C, Heutink, Peter, Seelaar, Harro, Murrell, Jill R, Ghetti, Bernardino, Spina, Salvatore, Grafman, Jordan, Kaye, Jeffrey A, Woltjer, Randall L, Mesulam, Marsel, Bigio, Eileen, Lladó, Albert, Miller, Bruce L, Alzualde, Ainhoa, Moreno, Fermin, Rohrer, Jonathan D, Mackenzie, Ian R A, Feldman, Howard H, Hamilton, Ronald L, Cruts, Marc, Engelborghs, Sebastiaan, De Deyn, Peter P, Van Broeckhoven, Christine, Bird, Thomas D, Cairns, Nigel J, Goate, Allison, Frosch, Matthew P, Riederer, Peter F, Bogdanovic, Nenad, Lee, Virginia M Y, Trojanowski, John Q, Van Deerlin, Vivianna M

“…To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important…”
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Rare Haplotypes in mtDNA: Applications in the Analysis of Biosocial Aspects of Past Human Populations by IZAGIRRE, NESKUTS, ALZUALDE, AINHOA, ALONSO, SANTOS, PAZ, LEIRE, ALONSO, ANTONIO, DE LA RÚA, CONCEPCIÓN

“…We report on the use of rare mutations to tackle biosocial questions such as kinship and differential burial practices from past human populations.To do this,…”
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Multiplex–PCR of short amplicons for mtDNA sequencing from ancient DNA by Alonso, Antonio, Albarrán, Cristina, Martı́n, Pablo, Garcı́a, Pilar, Garcı́a, Oscar, de la Rúa, Concepción, Alzualde, Ainhoa, Fernández de Simón, Lourdes, Sancho, Manuel, Fernández Piqueras, José

“…We here describe a multiplex–PCR method to generate six overlapping short amplicons (100–130 bp) in two separate PCR reactions of non-overlapping fragments for…”
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Estimación del sexo a nivel molecular en restos esqueléticos humanos by N. Izagirre, N. Bizcarra, A. Alzualde, C. de la Rua

“…La estimación del sexo de restos humanos de procedencia se ha venido realizando mediante el análisis morfológico de los restos esqueléticos. Sin embargo este…”
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