Cognitive profile in a large french cohort of adults with Prader-Willi syndrome: differences between genotypes von Copet, P., Jauregi, J., Laurier, V., Ehlinger, V., Arnaud, C., Cobo, A.-M., Molinas, C., Tauber, M., Thuilleaux, D.

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Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study von Chiaverini, C., Charlesworth, A., Fernandez, A., Barbarot, S., Bessis, D., Bodemer, C., Bursztejn, A.-C., Cobo, A.-M., Del Rio, M., D'Incan, M., Labrèze, C., Langlet, C., Mazereeuw, J., Miquel, J., Vabres, P., Meneguzzi, G., Lacour, J.-P.

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Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1 von Sistiaga, A., Urreta, I., Jodar, M., Cobo, A. M., Emparanza, J., Otaegui, D., Poza, J. J., Merino, J. J., Imaz, H., Martí-Massó, J. F., López de Munain, A.

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Calpainopathy—A Survey of Mutations and Polymorphisms von Richard, I., Roudaut, C., Saenz, A., Pogue, R., Grimbergen, J.E.M.A., Anderson, L.V.B., Beley, C., Cobo, A-M, de Diego, C., Eymard, B., Gallano, P., Ginjaar, H.B., Lasa, A., Pollitt, C., Topaloglu, H., Urtizberea, J.A., de Visser, M., van der Kooi, A., Bushby, K., Bakker, E., Lopez de Munain, A., Fardeau, M., Beckmann, J.S.

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene von Sáenz, A., Leturcq, F., Cobo, A. M., Poza, J. J., Ferrer, X., Otaegui, D., Camaño, P., Urtasun, M., Vílchez, J., Gutiérrez-Rivas, E., Emparanza, J., Merlini, L., Paisán, C., Goicoechea, M., Blázquez, L., Eymard, B., Lochmuller, H., Walter, M., Bonnemann, C., Figarella-Branger, D., Kaplan, J. C., Urtizberea, J. A., Martí-Massó, J. F., de Munain, A. López

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PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome von Donaldson, M R, Jensen, J L, Tristani-Firouzi, M, Tawil, R, Bendahhou, S, Suarez, W A, Cobo, A M, Poza, J J, Behr, E, Wagstaff, J, Szepetowski, P, Pereira, S, Mozaffar, T, Escolar, D M, Fu, Y-H, Ptácek, L J

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Expression-based, consistent biomarkers for prognosis and diagnosis in lung cancer von Arroyo, M., Larrosa, R., Gómez-Maldonado, J., Cobo, M. Á., Claros, M. G., Bautista, R.

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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q von Poza, J. J., Sáenz, A., Martínez-Gil, A., Cheron, N., Cobo, A. M., Urtasun, M., Martí-Massó, J. F., Grid, D., Beckmann, J. S., Prud'Homme, J. F., López De Munain, A.

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain) von URTASUN, M, SAENZ, A, MARTI MASSO, J. F, BECKMANN, J. S, LOPEZ DE MUNAIN, A, ROUDAUT, C, POZA, J. J, URTIZBEREA, J. A, COBO, A. M, RICHARD, I, GARCIA BRAGADO, F, LETURCQ, F, KAPLAN, J. C

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Current diagnosis and treatment of Castleman's disease von González García, A, Moreno Cobo, M Á, Patier de la Peña, J L

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Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy von ASHIZAWA, T, ANVRET, M, JUNIEN, C, KOCH, M. C, KORNELUK, R. G, LAVEDAN, C, MIKI, T, MULLEY, J. C, LOPEZ DE MUNAIN, A, NOVELLI, G, ROSES, A. D, SELTZER, W. K, BAIGET, M, SHAW, D. J, SMEETS, H, SUTHERLAND, G. R, YAMAGATA, H, HARPER, P. S, BARCELO, J. M, BRUNNER, H, COBO, A. M, DALLAPICCOLA, B, FENWICK, R. G, GRANDELL, U, HARLEY, H

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Role of apolipoprotein E epsilon 4 allele on chronic allograft nephropathy after renal transplantation von Hernández, D., Salido, E., Linares, J., Cobo, M.A., Barrios, Y., Rufino, M., Garcı́a, S., Martı́n, B., Lorenzo, V., González-Posada, J.M., González-Rinne, A., Torres, A.

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Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation von Figarella-Branger, D., El-Dassouki, M., Saenz, A., Cobo, AM, Malzac, P., Tong, S., Cassotte, E., Azulay, J.P., Pouget, J., Pellissier, J.F.

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Effect of serum phosphate on parathyroid hormone secretion during hemodialysis von de Francisco, Angel L.M., Cobo, Maria A., Setien, Maria A., Rodrigo, Emilio, Fresnedo, Gema F., Unzueta, Maria T., Amado, Jose A., Ruiz, J. Carlos, Arias, Manuel, Rodriguez, Mariano

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Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy von Cobo, A M, Poza, J J, Martorell, L, López de Munain, A, Emparanza, J I, Baiget, M

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TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis von Santín, Sheila, Ars, Elisabet, Rossetti, Sandro, Salido, Eduardo, Silva, Irene, García-Maset, Rafael, Giménez, Isabel, Ruíz, Patricia, Mendizábal, Santiago, Luciano Nieto, José, Peña, Antonia, Camacho, Juan Antonio, Fraga, Gloria, Cobo, Mª Ángeles, Bernis, Carmen, Ortiz, Alberto, de Pablos, Augusto Luque, Sánchez-Moreno, Ana, Pintos, Guillem, Mirapeix, Eduard, Fernández-Llama, Patricia, Ballarín, José, Torra, Roser

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Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy von López de Munain, A, Cobo, A M, Poza, J J, Navarrete, D, Martorell, L, Palau, F, Emparanza, J I, Baiget, M

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Frequency of myotonic dystrophy gene carriers in cataract patients von Cobo, A M, Poza, J J, Blanco, A, López de Munain, A, Saénz, A, Azpitarte, M, Marchessi, J, Martí Massó, J F

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Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy von de Munain, A. López, Cobo, A.M., Sáenz, A., Blanco, A., Poza, J.J., Martorell, L., Martí-Massó, J.F., Baiget, M.

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Sex-related difference in intergenerational expansion of myotonic dystrophy gene von Cobo, A.M, Baiget, M, López De Munain, A, Poza, J.J, Emparanza, J.I, Johnson, Keith

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