Dissolved organic metabolite extraction from high‐salt media
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Published in NMR in biomedicine (01.04.2023)
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Productivity as the main factor correlating with migratory behaviour in the evolutionary history of warblers
Ponti, R., Arcones, A., Ferrer, X., Vieites, D. R.
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
Jonson, P. H., Palmio, J., Johari, M., Penttilä, S., Evilä, A., Nelson, I., Bonne, G., Wiart, N., Meyer, V., Boland, A., Deleuze, J.‐F., Masson, C., Stojkovic, T., Chapon, F., Romero, N. B., Solé, G., Ferrer, X., Ferreiro, A., Hackman, P., Richard, I., Udd, B.
Published in European journal of neurology (01.05.2018)
Published in European journal of neurology (01.05.2018)
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Bacterial transcriptional response to labile exometabolites from photosynthetic picoeukaryote Micromonas commoda
Ferrer-González, Frank X, Hamilton, Maria, Smith, Christa B, Schreier, Jeremy E, Olofsson, Malin, Moran, Mary Ann
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Published in ISME Communications (23.01.2023)
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The Ocean's labile DOC supply chain
Moran, Mary Ann, Ferrer‐González, Frank X., Fu, He, Nowinski, Brent, Olofsson, Malin, Powers, McKenzie A., Schreier, Jeremy E., Schroer, William F., Smith, Christa B., Uchimiya, Mario
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Published in Limnology and oceanography (01.05.2022)
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Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
Ben Ammar, A., Petit, F., Alexandri, N., Gaudon, K., Bauché, S., Rouche, A., Gras, D., Fournier, E., Koenig, J., Stojkovic, T., Lacour, A., Petiot, P., Zagnoli, F., Viollet, L., Pellegrini, N., Orlikowski, D., Lazaro, L., Ferrer, X., Stoltenburg, G., Paturneau-Jouas, M., Hentati, F., Fardeau, M., Sternberg, D., Hantaï, D., Richard, P., Eymard, B.
Published in Journal of neurology (01.05.2010)
Published in Journal of neurology (01.05.2010)
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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Bécane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., Eymard, B., Duboc, D., Penisson-Besnier, I., Cuisset, J. M., Ferrer, X., Desguerre, I., Lacombe, D., Bushby, K., Pollitt, C., Toniolo, D., Fardeau, M., Schwartz, K., Muntoni, F.
Published in Annals of neurology (01.08.2000)
Published in Annals of neurology (01.08.2000)
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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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S274: A NOVEL SUBTYPE OF ANEMIA CAUSED BY MUTATIONS IN TFRC GENE
Colucci, S., Venturi, V., Nicole, F., Jové Solavera, D., Zimon, M., Richter‐Pechanska, P., Hernandez, G., Unal, S., Gumruk, F., Diaz‐Conradi, A., Romero‐Cortadellas, L., Ferrer‐Cortès, X., Olivella, M., Erlacher, M., Niemeyer, C., Wiesel, T., Pepperkok, R., Fleming, M. D., Kulozik, A. E., Sanchez, M., Muckenthaler, M. U.
Published in HemaSphere (01.06.2022)
Published in HemaSphere (01.06.2022)
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P1431: MOLECULAR CHARACTERIZATION AND LENTIVIRAL CORRECTION OF IN VITRO ERYTHROPOIEIS IN PATIENTS WITH A NOVEL RECESSIVE CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III (CDA TYPE IIIB)
Hernández, G., Romero‐Cortadellas, L., Ferrer‐Cortès, X., Venturi, V., Dessy‐Rodriguez, M., Olivella, M., Husami, A., Pérez de Soto, C., Morales‐Camacho, R. M., Villegas, A., González‐Fernández, F.‐A., Morado, M., Kalfa, T. A., Quintana‐Bustamante, O., Pérez‐Montero, S., Tornador, C., Segovia, J.‐C., Sánchez, M.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
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Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
Elleuch, N, Depienne, C, Benomar, A, Hernandez, A M Ouvrard, Ferrer, X, Fontaine, B, Grid, D, Tallaksen, C M E, Zemmouri, R, Stevanin, G, Durr, A, Brice, A
Published in Neurology (14.03.2006)
Published in Neurology (14.03.2006)
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Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
Muchir, A., Medioni, J., Laluc, M., Massart, C., Arimura, T., Kooi, A. J. Van Der, Desguerre, I., Mayer, M., Ferrer, X., Briault, S., Hirano, M., Worman, H. J., Mallet, A., Wehnert, M., Schwartz, K., Bonne, G.
Published in Muscle & nerve (01.10.2004)
Published in Muscle & nerve (01.10.2004)
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Charcot–Marie–Tooth type 4B1 ( MTMR2 gene): Confounding clinical presentation and report of 5 original mutations
Guimarães-Costa, R, Latour, P, Ferrer, X, Solé, G, Husson, I, Lacour, A, Dubourg, O, Leonard-Louis, S, Stojkovic, T
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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GNE myopathy: Characteristics of affected patients diagnosed in mainland France
Behin, A, Krahn, M, Maisonobe, T, Laforet, P, Stojkovic, T, Juntas Morales, R, Nadaj Pakleza, A, Campana-Salort, E, Attarian, S, Pouget, J, Ferrer, X, Urtizberea, A, Sacconi, S, Romero, N, Eymard, B
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON)
Vital, C., Julien, J., Martin-Negrier, M.-L., Lagueny, A., Ferrer, X., Vital, A.
Published in Revue neurologique (01.09.2015)
Published in Revue neurologique (01.09.2015)
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Comparison of two HIV testing strategies in primary care centres: indicator‐condition‐guided testing vs. testing of those with non‐indicator conditions
Menacho, I, Sequeira, E, Muns, M, Barba, O, Leal, L, Clusa, T, Fernandez, E, Moreno, L, Raben, D, Lundgren, J, Gatell, JM, Garcia, F, Cayuelas, L, Aragunde, V, Vergara, M, Catalan, M, Moreno, MA, Hormigo, G, Siso, A, Herreras, Z, Sebastian, L, Benito, L, Picas, A, Hoyo, J, Giner, MJ, Cararach, D, Moles, E, Moro, ML, Arrabal, P, Roca, D, Prego, S, Ferrer, X, Egido, A, Ventosa, C, Garcia, S, Muñoz, S, Massana, A, Sole, J, Curiel, M, Heras, F, Leon, A
Published in HIV medicine (01.10.2013)
Published in HIV medicine (01.10.2013)
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