Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
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Published in Neurology (01.03.2022)
Published in Neurology (01.03.2022)
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Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency
Pajares, Sonia, Arias, Angela, García-Villoria, Judit, Macías-Vidal, Judit, Ros, Emilio, de las Heras, Javier, Girós, Marisa, Coll, Maria J., Ribes, Antonia
Published in Journal of lipid research (01.10.2015)
Published in Journal of lipid research (01.10.2015)
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Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy
Pujol, Aurora, Ferrer, Isidre, Camps, Carme, Metzger, Elisabeth, Hindelang, Colette, Callizot, Noëlle, Ruiz, Montse, Pàmpols, Teresa, Giròs, Marisa, Mandel, Jean Louis
Published in Human molecular genetics (01.12.2004)
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The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann–Pick type C patients carrying missense mutations
Macías‐Vidal, Judit, Girós, Marisa, Guerrero, Martina, Gascón, Pere, Serratosa, Joan, Bachs, Oriol, Coll, Maria Josep
Published in The FEBS journal (01.10.2014)
Published in The FEBS journal (01.10.2014)
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Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy
Launay, Nathalie, Aguado, Carmen, Fourcade, Stéphane, Ruiz, Montserrat, Grau, Laia, Riera, Jordi, Guilera, Cristina, Giròs, Marisa, Ferrer, Isidre, Knecht, Erwin, Pujol, Aurora
Published in Acta neuropathologica (01.03.2015)
Published in Acta neuropathologica (01.03.2015)
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Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation
Matalonga, Leslie, Bravo, Miren, Serra‐Peinado, Carla, García‐Pelegrí, Elisabeth, Ugarteburu, Olatz, Vidal, Silvia, Llambrich, Maria, Quintana, Ester, Fuster‐Jorge, Pedro, Gonzalez‐Bravo, Maria Nieves, Beltran, Sergi, Dopazo, Joaquin, Garcia‐Garcia, Francisco, Foulquier, François, Matthijs, Gert, Mills, Philippa, Ribes, Antonia, Egea, Gustavo, Briones, Paz, Tort, Frederic, Girós, Marisa
Published in Human mutation (01.02.2017)
Published in Human mutation (01.02.2017)
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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M Pilar, Fons, Carmen, O'Callaghan, M Mar, García-Cazorla, Angels, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Artuch, Rafael, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén, Pérez-Dueñas, Belén
Published in Orphanet journal of rare diseases (26.10.2015)
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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis
Fourcade, Stephane, Ruiz, Montserrat, Camps, Carme, Schluter, Agatha, Houten, Sander M, Mooyer, Petra A. W, Pampols, Teresa, Dacremont, Georges, Wanders, Ronald J. A, Giros, Marisa, Pujol, Aurora
Published in American journal of physiology: endocrinology and metabolism (01.01.2009)
Published in American journal of physiology: endocrinology and metabolism (01.01.2009)
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Autophagy induction halts axonal degeneration in a mouse model of x-adrenoleukodystrophy
Launay, Nathalie, Aguado, Carmen, Fourcade, Stéphane, Ruiz, Montserrat, Grau, Laia, Riera, Jordi, Guilera, Cristina, Giròs, Marisa, Ferrer, Isidro (Ferrer Abizanda), Knecht, Erwin, Pujol Onofre, Aurora
Published in Acta neuropathologica (01.03.2015)
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Published in Acta neuropathologica (01.03.2015)
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Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials
Moser, Hugo W, Raymond, Gerald V, Koehler, Wolfgang, Sokolowski, Piotr, Hanefeld, Folker, Korenke, Georg Christoph, Green, Anne, Loes, Daniel J, Hunneman, Donald H, Jones, Richard O, Lu, Shou-En, Uziel, Graziella, Giros, Marisa L, Roels, Frank
Published in Advances in experimental medicine and biology (2003)
Published in Advances in experimental medicine and biology (2003)
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Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein
Díez, H., Cortès‐Saladelafont, E., Ormazábal, A., Marmiese, A. Fernández, Armstrong, J., Matalonga, Leslie, Bravo, Miren, Briones, Paz, Emperador, Sonia, Montoya, Julio, Artuch, Rafael, Giros, Marisa, Garcia‐Cazorla, Àngels
Published in Movement disorders (01.07.2017)
Published in Movement disorders (01.07.2017)
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Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism
Pineda, Mercedes, Girós, Marisa, Roels, Frank, Espeel, Marc, Ruiz, Montserrat, Moser, Ann, Moser, Hugo W., Wanders, Ronald J. A., Pavia, Carlos, Conill, Juan, Aracil, Asunción, Amat, Luis, Pampols, Teresa
Published in Journal of child neurology (01.07.1999)
Published in Journal of child neurology (01.07.1999)
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes
Published in Orphanet journal of rare diseases (15.09.2017)
Published in Orphanet journal of rare diseases (15.09.2017)
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Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation: HUMAN MUTATION
Matalonga, Leslie, Bravo, Miren, Serra-Peinado, Carla, García-Pelegrí, Elisabeth, Ugarteburu, Olatz, Vidal, Silvia, Llambrich, Maria, Quintana, Ester, Fuster-Jorge, Pedro, Gonzalez-Bravo, Maria Nieves, Beltran, Sergi, Dopazo, Joaquin, Garcia-Garcia, Francisco, Foulquier, François, Matthijs, Gert, Mills, Philippa, Ribes, Antonia, Egea, Gustavo, Briones, Paz, Tort, Frederic, Girós, Marisa
Published in Human mutation (01.02.2017)
Published in Human mutation (01.02.2017)
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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis
FOURCADE, Stéphane, RUIZ, Montserrat, PUJOL, Aurora, CAMPS, Carme, SCHLÜTER, Agatha, HOUTEN, Sander M, MOOYER, Petra A. W, PHMPOLS, Teresa, DACREMONT, Georges, WANDERS, Ronald J. A, GIROS, Marisa
Published in American journal of physiology: endocrinology and metabolism (2009)
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Published in American journal of physiology: endocrinology and metabolism (2009)
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Peroxisome mosaics
Roels, Frank, Saudubray, Jean-Marie, Giros, Marisa, Mandel, Hanna, Eyskens, François, Saracibar, Nieves, Atares Pueyo, Begoña, Prats, Jose M, De Prest, Betty, De Preter, Kathleen, Pineda, Mercedes, Krystkowiak, Pierre, Gootjes, Jeannette, Wanders, Ronald J A, Espeel, Marc, Poll-The, Bwee Tien
Published in Advances in experimental medicine and biology (2003)
Published in Advances in experimental medicine and biology (2003)
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