Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Llona, Jose E Barcena"'
Autor:
Böhm, Johann, Biancalana, Valérie, Dechene, Elizabeth T, Bitoun, Marc, Pierson, Christophe, Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A, Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S, Barger, Melissa A, Mahoney, Lane J, Kang, Peter B, Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Bomme Ousager, Lilian, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S B, Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Michel, Michele, Poza Aldea, Juan José, Michel, Fabrice, Furby, Alain, Llona, Jose E Barcena, van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori a H, Smith, Stephen A, Roggenbuck, Jennifer, Crowe, Carol A, Brennan Spitale, Allison, Johal, Sheila C, Amato, Anthony A, Demmer, Laurie A, Jonas, Jessica, Darras, Basil T, Bird, Thomas D, Laurino, Mercy, Welt, Selman I, Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H, Laporte, Jocelyn, Dechene, Elizabeth T., Dempsey, Melissa A., Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Oliveira, Acary S. B., Llona, Jose E. Barcena, Erby, Lori A. H., Smith, Stephen A., Crowe, Carol A., Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Darras, Basil T., Bird, Thomas D., Welt, Selman I., Beggs, Alan H.
Publikováno v:
Human Mutation
Human Mutation, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. 〈10.1002/humu.22067〉
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Böhm, J, Biancalana, V, Dechene, E T, Bitoun, M, Pierson, C R, Schaefer, E, Karasoy, H, Dempsey, M A, Klein, F, Dondaine, N, Kretz, C, Haumesser, N, Poirson, C, Toussaint, A, Greenleaf, R S, Barger, M A, Mahoney, L J, Kang, P B, Zanoteli, E, Vissing, J, Witting, N, Echaniz-Laguna, A, Wallgren-Pettersson, C, Dowling, J, Merlini, L, Oldfors, A, Ousager, L B, Melki, J, Krause, A, Jern, C, Oliveira, A S B, Petit, F, Jacquette, A, Chaussenot, A, Mowat, D, Leheup, B, Cristofano, M, Poza Aldea, J J, Michel, F, Furby, A, Llona, J E B, Van Coster, R, Bertini, E, Urtizberea, J A, Drouin-Garraud, V, Béroud, C, Prudhon, B, Bedford, M, Mathews, K, Erby, L A H, Smith, S A, Roggenbuck, J, Crowe, C A, Brennan Spitale, A, Johal, S C, Amato, A A, Demmer, L A, Jonas, J, Darras, B T, Bird, T D, Laurino, M, Welt, S I, Trotter, C, Guicheney, P, Das, S, Mandel, J-L, Beggs, A H & Laporte, J 2012, ' Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy ', Human Mutation, vol. 33, no. 6, pp. 949-59 . https://doi.org/10.1002/humu.22067
Human Mutation, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. 〈10.1002/humu.22067〉
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Böhm, J, Biancalana, V, Dechene, E T, Bitoun, M, Pierson, C R, Schaefer, E, Karasoy, H, Dempsey, M A, Klein, F, Dondaine, N, Kretz, C, Haumesser, N, Poirson, C, Toussaint, A, Greenleaf, R S, Barger, M A, Mahoney, L J, Kang, P B, Zanoteli, E, Vissing, J, Witting, N, Echaniz-Laguna, A, Wallgren-Pettersson, C, Dowling, J, Merlini, L, Oldfors, A, Ousager, L B, Melki, J, Krause, A, Jern, C, Oliveira, A S B, Petit, F, Jacquette, A, Chaussenot, A, Mowat, D, Leheup, B, Cristofano, M, Poza Aldea, J J, Michel, F, Furby, A, Llona, J E B, Van Coster, R, Bertini, E, Urtizberea, J A, Drouin-Garraud, V, Béroud, C, Prudhon, B, Bedford, M, Mathews, K, Erby, L A H, Smith, S A, Roggenbuck, J, Crowe, C A, Brennan Spitale, A, Johal, S C, Amato, A A, Demmer, L A, Jonas, J, Darras, B T, Bird, T D, Laurino, M, Welt, S I, Trotter, C, Guicheney, P, Das, S, Mandel, J-L, Beggs, A H & Laporte, J 2012, ' Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy ', Human Mutation, vol. 33, no. 6, pp. 949-59 . https://doi.org/10.1002/humu.22067
International audience; Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2b8230a547c3160caa644d9867fa832
https://hal-amu.archives-ouvertes.fr/hal-01681807
https://hal-amu.archives-ouvertes.fr/hal-01681807
Autor:
Böhm J; Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France., Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J
Publikováno v:
Human mutation [Hum Mutat] 2012 Jun; Vol. 33 (6), pp. 949-59. Date of Electronic Publication: 2012 Apr 04.