A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
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
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Journal Article
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
GARCIA-MURIAS, María, QUINTANS, Beatriz, DAPENA, Dolores, MOREIRA, Ramon, RODRIGUEZ-TRELLES, Francisco, SEQUEIROS, Jorge, CARRACEDO, Angel, SILVEIRA, Isabel, SOBRIDO, María J, ARIAS, Manuel, SEIXAS, Ana I, CACHEIRO, Pilar, TARRIO, Rosa, PARDO, Julio, MILLAN, María J, ARIAS-RIVAS, Susana, BLANCO-ARIAS, Patricia
Published in Brain (London, England : 1878) (01.05.2012)
Published in Brain (London, England : 1878) (01.05.2012)
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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Correa‐Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé‐Grau, Anna, Hernández‐Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández‐Rodríguez, Sandra, Tello, Cristina, Ramírez‐Jiménez, Laura, Pérez, Belén, Sánchez‐Montáñez, Ángel, Macaya, Alfons, Sobrido, María J., Martinez‐Vicente, Marta, Pérez‐Dueñas, Belén, Espinós, Carmen
Published in Annals of clinical and translational neurology (01.08.2020)
Published in Annals of clinical and translational neurology (01.08.2020)
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Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis
Taboada, María, Martínez, Diego, Pilo, Belén, Jiménez-Escrig, Adriano, Robinson, Peter N, Sobrido, María J
Published in BMC medical informatics and decision making (31.07.2012)
Published in BMC medical informatics and decision making (31.07.2012)
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Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases
Varela, Miguel A, Curtis, Helen J, Douglas, Andrew G L, Hammond, Suzan M, O'Loughlin, Aisling J, Sobrido, Maria J, Scholefield, Janine, Wood, Matthew J A
Published in European journal of human genetics : EJHG (01.02.2016)
Published in European journal of human genetics : EJHG (01.02.2016)
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Prevalence of spinocerebellar ataxia 36 in a US population
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
Published in Neurology. Genetics (01.08.2017)
Published in Neurology. Genetics (01.08.2017)
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Brain calcifications and PCDH12 variants
Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana Marisa, Lemos, Roberta R, Ferreira, Joana, Moura, Denis, Sobrido, Maria J, Richard, Anne-Claire, Lopez, Alma Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel H, Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis W, Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João R M
Published in Neurology. Genetics (01.08.2017)
Published in Neurology. Genetics (01.08.2017)
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Summarizing Phenotype Evolution Patterns from Report Cases
Taboada, María, Álvarez, Verónica, Martínez, Diego, Pilo, Belén, Robinson, Peter N., Sobrido, María J.
Published in Journal of medical systems (01.11.2012)
Published in Journal of medical systems (01.11.2012)
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Rare HRAS1 alleles are a risk factor for the development of brain tumors
Vega, Ana, Sobrido, María J., Ruiz‐Ponte, Clara, Barros, Francisco, Carracedo, Angel
Published in Cancer (01.12.2001)
Published in Cancer (01.12.2001)
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Keller, Annika, Westenberger, Ana, Sobrido, Maria J, García-Murias, Maria, Domingo, Aloysius, Sears, Renee L, Lemos, Roberta R, Ordoñez-Ugalde, Andres, Nicolas, Gael, da Cunha, José E Gomes, Rushing, Elisabeth J, Hugelshofer, Michael, Wurnig, Moritz C, Kaech, Andres, Reimann, Regina, Lohmann, Katja, Dobričić, Valerija, Carracedo, Angel, Petrović, Igor, Miyasaki, Janis M, Abakumova, Irina, Mäe, Maarja Andaloussi, Raschperger, Elisabeth, Zatz, Mayana, Zschiedrich, Katja, Klepper, Jörg, Spiteri, Elizabeth, Prieto, Jose M, Navas, Inmaculada, Preuss, Michael, Dering, Carmen, Janković, Milena, Paucar, Martin, Svenningsson, Per, Saliminejad, Kioomars, Khorshid, Hamid R K, Novaković, Ivana, Aguzzi, Adriano, Boss, Andreas, Le Ber, Isabelle, Defer, Gilles, Hannequin, Didier, Kostić, Vladimir S, Campion, Dominique, Geschwind, Daniel H, Coppola, Giovanni, Betsholtz, Christer, Klein, Christine, Oliveira, Joao R M
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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Assessing microsatellite instability with semiautomated fluorescent technology: Application to the analysis of primary brain tumors
Sobrido, Maria J., Barros, Francisco, Lema, Manola, Rodriguez-Pereira, Carlos, Forteza, Jerónimo, Carracedo, Angel
Published in Electrophoresis (01.05.2000)
Published in Electrophoresis (01.05.2000)
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Role of tau in non-familial dementia
Wilhelmsen, Kirk C., Geschwind, Daniel, Clark, Lorraine N., Sobrido, Maria J., Heyn, Sietske N., Kloeckener, Barbara, Feiger, Jennie, Miller, Bruce L.
Published in Neurobiology of aging (01.05.2000)
Published in Neurobiology of aging (01.05.2000)
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