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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João R M, Sears, Renee L, Ramos, Eliana Marisa, 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
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
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Journal Article
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Wang, Cheng, Li, Yulei, Shi, Lei, Ren, Jie, Patti, Monica, Wang, Tao, de Oliveira, João R M, Sobrido, María-Jesús, Quintáns, Beatriz, Baquero, Miguel, Cui, Xiaoniu, Zhang, Xiang-Yang, Wang, Lianqing, Xu, Haibo, Wang, Junhan, Yao, Jing, Dai, Xiaohua, Liu, Juan, Zhang, Lu, Ma, Hongying, Gao, Yong, Ma, Xixiang, Feng, Shenglei, Liu, Mugen, Wang, Qing K, Forster, Ian C, Zhang, Xue, Liu, Jing-Yu
Published in Nature genetics (01.03.2012)
Published in Nature genetics (01.03.2012)
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Journal Article
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
McEachin, Zachary T., Gendron, Tania F., Raj, Nisha, García-Murias, María, Banerjee, Anwesha, Purcell, Ryan H., 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, San Millán, Beatriz, 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.
Published in Neuron (Cambridge, Mass.) (22.07.2020)
Published in Neuron (Cambridge, Mass.) (22.07.2020)
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Journal Article
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
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
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
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article
PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Review
Minguillón Pereiro, Anxo Manuel, Quintáns Castro, Beatriz, Ouro Villasante, Alberto, Aldrey Vázquez, José Manuel, Cortés Hernández, Julia, Aramburu-Núñez, Marta, Arias Gómez, Manuel, Jiménez Martín, Isabel, Sobrino, Tomás, Pías-Peleteiro, Juan Manuel
Published in Biomedicines (01.08.2024)
Published in Biomedicines (01.08.2024)
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Journal Article
The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles
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.
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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Journal Article
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
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
Published in Neurogenetics (01.02.2013)
Published in Neurogenetics (01.02.2013)
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Journal Article
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
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
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Journal Article
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
Navas-Sánchez, Francisco J., Marcos-Vidal, Luis, de Blas, Daniel Martín, Fernández-Pena, Alberto, Alemán-Gómez, Yasser, Guzmán-de-Villoria, Juan A., Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel
Published in Journal of neurology (01.06.2022)
Published in Journal of neurology (01.06.2022)
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Journal Article
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Navas-Sánchez, Francisco J., Fernández-Pena, Alberto, Martín de Blas, Daniel, Alemán-Gómez, Yasser, Marcos-Vidal, Luís, Guzmán-de-Villoria, Juan A., Fernández-García, Pilar, Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Pardo, Julio, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel
Published in Journal of neurology (01.07.2021)
Published in Journal of neurology (01.07.2021)
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Journal Article
Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0
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
Published in PloS one (27.04.2010)
Published in PloS one (27.04.2010)
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Journal Article
‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
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.
Published in Brain (London, England : 1878) (01.05.2012)
Published in Brain (London, England : 1878) (01.05.2012)
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Journal Article
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
Aguiar, Pablo, Pardo, Julio, Arias, Manuel, Quintáns, Beatriz, Fernández‐Prieto, Montse, Martínez‐Regueiro, Rocío, Pumar, José‐Manuel, Silva‐Rodríguez, Jesús, Ruibal, Álvaro, Sobrido, María‐Jesús, Cortés, Julia
Published in Movement disorders (01.02.2017)
Published in Movement disorders (01.02.2017)
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Journal Article
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population
Fachal, Laura, Mosquera-Miguel, Ana, Pastor, Pau, Ortega-Cubero, Sara, Lorenzo, Elena, Oterino-Durán, Agustín, Toriello, María, Quintáns, Beatriz, Camiña-Tato, Montse, Sesar, Angel, Vega, Ana, Sobrido, María-Jesús, Salas, Antonio
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2015)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2015)
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Journal Article
New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0
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
Published in PloS one (02.04.2009)
Published in PloS one (02.04.2009)
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Journal Article
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
Navas-Sánchez, Francisco J., Martín De Blas, Daniel, Fernández-Pena, Alberto, Alemán-Gómez, Yasser, Lage-Castellanos, Agustín, Marcos-Vidal, Luis, Guzmán-De-Villoria, Juan A., Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., -Ugalde, Andrés Ordoñez, Quintáns, Beatriz, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2022)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.01.2022)
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Journal Article
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Fernández-Ramos, Joaquín A., De la Torre-Aguilar, María José, Quintáns, Beatriz, Pérez-Navero, Juan Luis, Beyer, Katrin, López-Laso, Eduardo, Ochoa Sepúlveda, J.J., Serrano Cárdenas, J., Sobrido Gómez, M.J., Mora, M.D., Moreno-Medinilla, E., Ramos, J., Llorente, M., Teva, M.D., Castaño-de la Mota, C., Martínez-Ruiz, J., González Gutierrez-Solana, L., Martí, M.J., Gómez-Esteban, J.C., Hernandez-Vara, J., García Cazorla, Á., Artuch, R., Adarmes, A., Mir, P.
Published in Parkinsonism & related disorders (01.01.2022)
Published in Parkinsonism & related disorders (01.01.2022)
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Journal Article
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
Bettencourt, Conceição, de Yébenes, Justo García, López-Sendón, José Luis, Shomroni, Orr, Zhang, Xingqian, Qian, Shu-Bing, Bakker, Ingrid M. C., Heetveld, Sasja, Ros, Raquel, Quintáns, Beatriz, Sobrido, María-Jesús, Bevova, Marianna R., Jain, Shushant, Bugiani, Marianna, Heutink, Peter, Rizzu, Patrizia
Published in Cerebellum (London, England) (01.06.2015)
Published in Cerebellum (London, England) (01.06.2015)
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Journal Article
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Ortolano, Saida, Tarrío, Rosa, Blanco-Arias, Patricia, Teijeira, Susana, Rodríguez-Trelles, Francisco, García-Murias, María, Delague, Valerie, Lévy, Nicolas, Fernández, José M., Quintáns, Beatriz, Millán, Beatriz San, Carracedo, Ángel, Navarro, Carmen, Sobrido, María-Jesús
Published in Neuromuscular disorders : NMD (01.04.2011)
Published in Neuromuscular disorders : NMD (01.04.2011)
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Journal Article