Search Results - "Sobrido, Maria J."

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia by 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

“…Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene…”
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'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization by 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

“…Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a…”
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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect by 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

“…Abstact FBXO7 is implicated in the ubiquitin–proteasome system and parkin‐mediated mitophagy. FBXO7defects cause a levodopa‐responsive parkinsonian‐pyramidal…”
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Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis by Taboada, María, Martínez, Diego, Pilo, Belén, Jiménez-Escrig, Adriano, Robinson, Peter N, Sobrido, María J

“…Semantic Web technology can considerably catalyze translational genetics and genomics research in medicine, where the interchange of information between basic…”
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Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases by 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

“…Allele-specific gene therapy aims to silence expression of mutant alleles through targeting of disease-linked single-nucleotide polymorphisms (SNPs). However,…”
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Prevalence of spinocerebellar ataxia 36 in a US population by 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

“…To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United…”
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Brain calcifications and PCDH12 variants by 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

“…To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in and in adult patients with…”
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Summarizing Phenotype Evolution Patterns from Report Cases by Taboada, María, Álvarez, Verónica, Martínez, Diego, Pilo, Belén, Robinson, Peter N., Sobrido, María J.

“…The need to represent and manage time is implicit in several reasoning processes in medicine. However, this is predominantly obvious in the field of many…”
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Rare HRAS1 alleles are a risk factor for the development of brain tumors by Vega, Ana, Sobrido, María J., Ruiz‐Ponte, Clara, Barros, Francisco, Carracedo, Angel

“…BACKGROUND The highly polymorphic HRAS1 minisatellite locus, located 1 kilobase downstream from the H‐ras1 gene, has been associated with increased…”
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice by 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

“…Christer Betsholtz, Christine Klein, Maria Sobrido and colleagues report the identification of mutations in the gene encoding PDGF-B that cause idiopathic…”
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Molecular Genetics and Inherited Ataxias: Redefining Phenotypes and Pathogenesis by Sobrido, Maria J., Geschwind, Daniel H.

“…Genetic research on inherited ataxias has transformed our understanding of these conditions. The availability of genetic testing has shown that a…”
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Assessing microsatellite instability with semiautomated fluorescent technology: Application to the analysis of primary brain tumors by Sobrido, Maria J., Barros, Francisco, Lema, Manola, Rodriguez-Pereira, Carlos, Forteza, Jerónimo, Carracedo, Angel

“…The replication error phenotype, revealed by the observation of widespread microsatellite instability (MIN), has been identified as a new mechanism of cancer…”
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Role of tau in non-familial dementia by Wilhelmsen, Kirk C., Geschwind, Daniel, Clark, Lorraine N., Sobrido, Maria J., Heyn, Sietske N., Kloeckener, Barbara, Feiger, Jennie, Miller, Bruce L.

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