Rett syndrome in Spain: mutation analysis and clinical correlations von Monrós, Eugènia, Armstrong, Judith, Aibar, Elena, Poo, Pilar, Canós, Ignacio, Pineda, Mercè

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Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation von Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia

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Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat von Monrós, Eugènia, Moltó, Maria Dolores, Martínez, Francisco, Canizares, Joaqún, Blanca, Jose, Vílchez, Juan J., Prieto, Felix, Frutos, Rosa de, Palau, Francesc

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Friedreich's Ataxia: Idebenone Treatment in Early Stage Patients von Artuch, R., Aracil, A., Mas, A., Colomé, C., Rissech, M., Monrós, E., Pineda, M.

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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion von Campuzano, Victoria, Montermini, Laura, Moltò, Maria Dolores, Pianese, Luigi, Cossée, Mireille, Cavalcanti, Francesca, Monros, Eugenia, Rodius, François, Duclos, Franck, Monticelli, Antonella, Zara, Federico, Cañizares, Joaquin, Koutnikova, Hana, Bidichandani, Sanjay I., Gellera, Cinzia, Brice, Alexis, Trouillas, Paul, De Michele, Giuseppe, Filla, Alessandro, De Frutos, Rosa, Palau, Francisco, Patel, Pragna I., Di Donato, Stefano, Mandel, Jean-Louis, Cocozza, Sergio, Koenig, Michel, Pandolfo, Massimo

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Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients von DE CASTRO, M, GARCIA-PLANELLS, J, MOLTO, M. D, PALAU, F, MONROS, E, CANIZARES, J, VAZQUEZ-MANRIQUE, R, VILCHEZ, J. J, URTASUN, M, LUCAS, M, NAVARRO, G, IZQUIERDO, G

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Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q von Palau, Francisco, de Michele, Giuseppe, Vilchez, Juan J., Pandolfo, Massimo, Monrós, Eugègnia, Cocozza, Sergio, Smeyers, Patricia, Lopez-Arlandis, José, Campanella, Giuseppe, di Donato, Stefano, Filla, Alessandro

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The impact of MECP2 mutations in the expression patterns of Rett syndrome patients von BALLESTAR, Esteban, ROPERO, Santiago, MONROS, Eugenia, ESTELLER, Manel, ALAMINOS, Miguel, ARMSTRONG, Judith, SETIEN, Fernando, AGRELO, Ruben, FRAGA, Mario F, HERRANZ, Michel, AVILA, Sonia, PINEDA, Mercedes

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Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM von Okamoto, Nobuhiko, Del Maestro, Rolando, Valero, Rebeca, Monros, Eugenia, Poo, Pilar, Kanemura, Yonehiro, Yamasaki, Mami

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Children With Stroke: Polymorphism of the MTHFR Gene, Mild Hyperhomocysteinemia, and Vitamin Status von Cardo, Esther, Monrós, Eugènia, Colomé, Catrina, Artuch, Rafael, Campistol, Jaume, Pineda, Mercè, Vilaseca, M. Antònia

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Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate von Mitui, Midori, Campbell, Catarina, Coutinho, Gabriela, Sun, Xia, Lai, Chih-Hung, Thorstenson, Yvonne, Castellvi-Bel, Sergi, Fernandez, Luis, Monros, Eugenia, Tavares Costa Carvalho, Beatriz, Porras, Oscar, Fontan, Gumersindo, Gatti, Richard A.

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Prenatal Diagnosis in Rett Syndrome von Armstrong, J., Aibar, E., Pineda, M., Pérez, M.M., Geán, E., Carrera, M., Casas, C., Martínez, F., Monrós, E.

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Cerebrospinal Fluid Concentrations of Idebenone in Friedreich Ataxia Patients von Artuch, R., Aracil, A., Mas, A., Monrós, E., Vilaseca, M. A., Pineda, M.

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Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q von CHAMBERLAIN, S, FARRALL, M, FUJITA, R, KOENIG, M, MANDEL, J.-L, PALAU, F, MONROS, E, VILCHEZ, J, PRIETO, F, RICHTER, A, VANASSE, M, MELANCON, S, SHAW, J, COCOZZA, S, REDOLFI, E, CAVALCANTI, F, PIANESE, L, FILLA, A, DIDONATO, S, PANDOLFO, M, WILKES, D, CARVAJAL, J, HILLERMAN, R, DOUDNEY, K, HARDING, A. E, WILLIAMSON, R, SIRUGO, G

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The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients von Della Ragione, Floriana, Tiunova, Anna, Vacca, Marcella, Strazzullo, Maria, González, Eva, Armstrong, Judith, Valero, Rebeca, Campanile, Ciro, Pineda, Mercè, Hulten, Maj, Monros, Eugenia, D'Esposito, Maurizio, Prokhortchouk, Egor

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dfh is a Drosophila homolog of the Friedreich's ataxia disease gene von Cañizares, Joaquı́n, Blanca, José M, Navarro, Juan A, Monrós, Eugenia, Palau, Francisco, Moltó, Marı́a D

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Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population von Monrós, E, Cañizares, J, Moltó, M D, Rodius, F, Montermini, L, Cossée, M, Martínez, F, Prieto, F, de Frutos, R, Koenig, M, Pandolfo, M, Bertranpetit, J, Palau, F

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Prenatal diagnosis of friedreich ataxia: Improved accuracy by using new genetic flanking markers von Monros, E., Smeyers, P., Ramos, M. A., Prieto, F., Palau, F.

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Multiple mutation analysis of the cystic fibrosis gene in single cells von Sánchez-García, Jorge Fernando, Benet, Jordi, Gutiérrez-Mateo, Cristina, Luís Séculi, José, Monrós, Eugènia, Navarro, Joaquima

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Síndrome de Angelman: características físicas y fenotipo conductual en 37 pacientes con diagnóstico genético confirmado von Galván Manso, Marta, Campistol Plana, Jaume, Monros Marin, Eugenia, Póo Argüelles, Pilar, Vernet Bori, Ana María, Pineda Marfà, Mercè, Sans Fitó, Anna, Colomer Oferil, Jaume, Conill Ramón, Juan José, Sanmartí Vilaplana, Francesc Xavier

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