Rezultati - Quintáns, Beatriz

New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 od Álvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cerezo, Maria, Quintáns, Beatriz, Zarrabeitia, Maria Teresa, Cuscó, Ivon, Lareu, Maria Victoria, García, Óscar, Pérez-Jurado, Luis, Carracedo, Ángel, Salas, Antonio

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Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 od Álvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cerezo, Maria, Quintáns, Beatriz, Zarrabeitia, Maria Teresa, Cuscó, Ivon, Lareu, Maria Victoria, García, Óscar, Pérez-Jurado, Luis, Carracedo, Ángel, Salas, Antonio

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Prevalence of spinocerebellar ataxia 36 in a US population od Valera, Juliana M., Diaz, Tatyana, Petty, Lauren E., Quintáns, Beatriz, Yáñez, Zuleima, Boerwinkle, Eric, Muzny, Donna, Akhmedov, Dmitry, Berdeaux, Rebecca, Sobrido, Maria J., Gibbs, Richard, Lupski, James R., Geschwind, Daniel H., Perlman, Susan, Below, Jennifer E., Fogel, Brent L.

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‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization od García-Murias, María, Quintáns, Beatriz, Arias, Manuel, Seixas, Ana I., Cacheiro, Pilar, Tarrío, Rosa, Pardo, Julio, Millán, María J., Arias-Rivas, Susana, Blanco-Arias, Patricia, Dapena, Dolores, Moreira, Ramón, Rodríguez-Trelles, Francisco, Sequeiros, Jorge, Carracedo, Ángel, Silveira, Isabel, Sobrido, María J.

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PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA od Ozes, Burcak, Karagoz, Nazan, Schüle, Rebecca, Rebelo, Adriana, Sobrido, María-Jesús, Harmuth, Florian, Synofzik, Matthis, Pascual, Samuel Ignacio Pascual, Colak, Melek, Ciftci-Kavaklioglu, Beyza, Kara, Batuhan, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Gonzalez, Michael A., Soysal, Aysun, Zuchner, Stephan, Battaloglu, Esra

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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia od Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel

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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles od Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia od Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt, Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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Chimeric peptide species contribute to divergent dipeptide repeat pathology in c9ALS/FTD and SCA36 od McEachin, Zachary T., Gendron, Tania F., Raj, Nisha, García-Murias, María, Banerjee, Anwesha, Purcell, Ryan, Ward, Patricia J., Todd, Tiffany W., Merritt-Garza, Megan E., Jansen-West, Karen, Hales, Chadwick M., García-Sobrino, Tania, Quintáns, Beatriz, Holler, Christopher J., Taylor, Georgia, Millán, Beatriz San, Teijeira, Susana, Yamashita, Toru, Ohkubo, Ryuichi, Boulis, Nicholas M., Xu, Chongchong, Wen, Zhexing, Streichenberger, Nathalie, Fogel, Brent L., Kukar, Thomas, Abe, Koji, Dickson, Dennis W., Arias, Manuel, Glass, Jonathan D., Jiang, Jie, Tansey, Malú G., Sobrido, María-Jesús, Petrucelli, Leonard, Rossoll, Wilfried, Bassell, Gary J.

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export od Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João, Sears, Renee L., Marisa Ramos, Eliana, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L., Goizet, Cyril, Jen, Joanna C., Kirdlarp, Suppachok, Lang, Anthony E., Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S., Simpson, Sheila A., Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K., Vanakker, Olivier, Wessels, Marja W., Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H., Battini, Jean-Luc, Coppola, Giovanni

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia od Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification od Hsu, Sandy Chan, Sears, Renee L., Lemos, Roberta R., Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D., Fullerton, Janice M., Adair, John C., Berner, Jon E., Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L., García-Estevez, Daniel, Goldman, Jill, Goudreau, John L., Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C., Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E., Linglart, Agnès, Maisenbacher, Melissa K., Manyam, Bala V., Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B., Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A., Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R., de Oliveira, João R. M., Sobrido, María-Jesús, Geschwind, Daniel H., Coppola, Giovanni

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