Cognitive profile in a large french cohort of adults with Prader-Willi syndrome: differences between genotypes
Copet, P., Jauregi, J., Laurier, V., Ehlinger, V., Arnaud, C., Cobo, A.-M., Molinas, C., Tauber, M., Thuilleaux, D.
Published in Journal of intellectual disability research (01.03.2010)
Published in Journal of intellectual disability research (01.03.2010)
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Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study
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.
Published in British journal of dermatology (1951) (01.04.2014)
Published in British journal of dermatology (1951) (01.04.2014)
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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
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.
Published in Psychological medicine (01.03.2010)
Published in Psychological medicine (01.03.2010)
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Calpainopathy—A Survey of Mutations and Polymorphisms
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.
Published in American journal of human genetics (01.06.1999)
Published in American journal of human genetics (01.06.1999)
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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
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
Published in Brain (London, England : 1878) (01.04.2005)
Published in Brain (London, England : 1878) (01.04.2005)
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PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
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
Published in Neurology (10.06.2003)
Published in Neurology (10.06.2003)
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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q
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.
Published in Annals of neurology (01.02.1999)
Published in Annals of neurology (01.02.1999)
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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)
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
Published in Brain (London, England : 1878) (01.09.1998)
Published in Brain (London, England : 1878) (01.09.1998)
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Expression-based, consistent biomarkers for prognosis and diagnosis in lung cancer
Arroyo, M., Larrosa, R., Gómez-Maldonado, J., Cobo, M. Á., Claros, M. G., Bautista, R.
Published in Clinical & translational oncology (01.10.2020)
Published in Clinical & translational oncology (01.10.2020)
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Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
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
Published in American journal of human genetics (01.03.1994)
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Published in American journal of human genetics (01.03.1994)
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Current diagnosis and treatment of Castleman's disease
González García, A, Moreno Cobo, M Á, Patier de la Peña, J L
Published in Revista clínica espanõla (English edition) (01.04.2016)
Published in Revista clínica espanõla (English edition) (01.04.2016)
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Role of apolipoprotein E epsilon 4 allele on chronic allograft nephropathy after renal transplantation
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.
Published in Transplantation proceedings (01.12.2004)
Published in Transplantation proceedings (01.12.2004)
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Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation
Figarella-Branger, D., El-Dassouki, M., Saenz, A., Cobo, AM, Malzac, P., Tong, S., Cassotte, E., Azulay, J.P., Pouget, J., Pellissier, J.F.
Published in Neuromuscular disorders : NMD (2002)
Published in Neuromuscular disorders : NMD (2002)
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Effect of serum phosphate on parathyroid hormone secretion during hemodialysis
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
Published in Kidney international (01.12.1998)
Published in Kidney international (01.12.1998)
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Conference Proceeding
Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy
Cobo, A M, Poza, J J, Martorell, L, López de Munain, A, Emparanza, J I, Baiget, M
Published in Journal of medical genetics (01.02.1995)
Published in Journal of medical genetics (01.02.1995)
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Journal Article
Conference Proceeding
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy
López de Munain, A, Cobo, A M, Poza, J J, Navarrete, D, Martorell, L, Palau, F, Emparanza, J I, Baiget, M
Published in Journal of medical genetics (01.09.1995)
Published in Journal of medical genetics (01.09.1995)
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Frequency of myotonic dystrophy gene carriers in cataract patients
Cobo, A M, Poza, J J, Blanco, A, López de Munain, A, Saénz, A, Azpitarte, M, Marchessi, J, Martí Massó, J F
Published in Journal of medical genetics (01.03.1996)
Published in Journal of medical genetics (01.03.1996)
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Sex-related difference in intergenerational expansion of myotonic dystrophy gene
Cobo, A.M, Baiget, M, López De Munain, A, Poza, J.J, Emparanza, J.I, Johnson, Keith
Published in The Lancet (British edition) (01.05.1993)
Published in The Lancet (British edition) (01.05.1993)
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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Spanish Family With a Ser252Phe Mutation in the CHRNA4 Gene
Sáenz, Amets, Galán, Juan, Caloustian, Christophe, Lorenzo, Frederic, Márquez, Celedonio, Rodríguez, Nuria, Jiménez, Maria Dolores, Poza, Juan Jose, Cobo, Ana Maria, Grid, Djamel, Prud'homme, Jean-François, López de Munain, Adolfo
Published in Archives of neurology (Chicago) (01.08.1999)
Published in Archives of neurology (Chicago) (01.08.1999)
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