نتائج البحث - Allamand, Valérie

ColVI myopathies: where do we stand, where do we go? حسب Allamand, Valérie, Briñas, Laura, Richard, Pascale, Stojkovic, Tanya, Quijano-Roy, Susana, Bonne, Gisèle

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Antioxidants Reduce Muscular Dystrophy in the dy(2J)/dy(2J) Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy حسب Harandi, Vahid M., Moreira Soares Oliveira, Bernardo, Allamand, Valérie, Friberg, Ariana, Fontes-Oliveira, Cibely C., Durbeej, Madeleine

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy حسب Durbeej, Madeleine, Sawatzki, Shanna M., Barresi, Rita, Schmainda, Kathleen M., Allamand, Valérie, Michele, Daniel E., Campbell, Kevin P.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors حسب Castets, Perrine, Maugenre, Svetlana, Gartioux, Corine, Rederstorff, Mathieu, Krol, Alain, Lescure, Alain, Tajbakhsh, Shahragim, Allamand, Valérie, Guicheney, Pascale

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A mutation in the SEPN1 SRE reduces selenocysteine incorporation and leads to SEPN1-related myopathy حسب Maiti, Baijayanta, Arbogast, Sandrine, Allamand, Valérie, Moyle, Mark, Anderson, Christine, Richard, Pascale, Guicheney, Pascale, Ferreiro, Ana, Flanigan, Kevin, Howard, Michael

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy حسب Demir, Ercan, Sabatelli, Patrizia, Allamand, Valérie, Ferreiro, Ana, Moghadaszadeh, Behzad, Makrelouf, Mohamed, Topaloglu, Haluk, Echenne, Bernard, Merlini, Luciano, Guicheney, Pascale

احصل على النص الكامل احصل على النص الكامل

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations حسب BOZORGMEHR, Bita, KARIMINEJAD, Ariana, NAFISSI, Shahriar, JEBELLI, Bita, ANDONI, Urtizberea, GARTIOUx, Corine, LEDEUIL, Celine, ALLAMAND, Valérie, RICHARD, Pascale, KARIMINEJAD, Mohammad-Hassan

احصل على النص الكامل احصل على النص الكامل

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect حسب Guiraud, Simon, Migeon, Tiffany, Ferry, Arnaud, Chen, Zhiyong, Ouchelouche, Souhila, Verpont, Marie-Christine, Sado, Yoshikazu, Allamand, Valérie, Ronco, Pierre, Plaisier, Emmanuelle

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Cib2 Binds Integrin α7Bβ1D and Is Reduced in Laminin α2 Chain-deficient Muscular Dystrophy حسب Häger, Mattias, Bigotti, Maria Giulia, Meszaros, Renata, Carmignac, Virginie, Holmberg, Johan, Allamand, Valérie, Åkerlund, Mikael, Kalamajski, Sebastian, Brancaccio, Andrea, Mayer, Ulrike, Durbeej, Madeleine

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy حسب Allamand, Valérie, Richard, Pascale, Lescure, Alain, Ledeuil, Céline, Desjardin, Delphine, Petit, Nathalie, Gartioux, Corine, Ferreiro, Ana, Krol, Alain, Pellegrini, Nadine, Urtizberea, J Andoni, Guicheney, Pascale

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder حسب Foy, Malika, De Mazancourt, Philippe, Métay, Corinne, Carlier, Robert, Allamand, Valérie, Gartioux, Corine, Gillas, Fabrice, Miri, Nawel, Jobic, Valérie, Mekki, Ahmed, Richard, Pascale, Michot, Caroline, Benistan, Karelle

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy حسب Rederstorff, Mathieu, Castets, Perrine, Arbogast, Sandrine, Lainé, Jeanne, Vassilopoulos, Stéphane, Beuvin, Maud, Dubourg, Odile, Vignaud, Alban, Ferry, Arnaud, Krol, Alain, Allamand, Valérie, Guicheney, Pascale, Ferreiro, Ana, Lescure, Alain

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases حسب Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy حسب Rau, Frédérique, Lainé, Jeanne, Ramanoudjame, Laetitita, Ferry, Arnaud, Arandel, Ludovic, Delalande, Olivier, Jollet, Arnaud, Dingli, Florent, Lee, Kuang-Yung, Peccate, Cécile, Lorain, Stéphanie, Kabashi, Edor, Athanasopoulos, Takis, Koo, Taeyoung, Loew, Damarys, Swanson, Maurice S., Le Rumeur, Elisabeth, Dickson, George, Allamand, Valérie, Marie, Joëlle, Furling, Denis

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene حسب Bardakov, Sergey N., Deev, Roman V., Magomedova, Raisat M., Umakhanova, Zoya R., Allamand, Valérie, Gartioux, Corine, Zulfugarov, Kamil Z., Akhmedova, Patimat G., Tsargush, Vadim A., Titova, Angelina A., Mavlikeev, Mikhail O., Zorin, Vadim L., Chernets, Ekaterina N., Dalgatov, Gimat D., Konovalov, Fedor A., Isaev, Artur A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Natural history of pulmonary function in collagen VI-related myopathies حسب Foley, A. Reghan, Quijano-Roy, Susana, Collins, James, Straub, Volker, McCallum, Michelle, Deconinck, Nicolas, Mercuri, Eugenio, Pane, Marika, D’Amico, Adele, Bertini, Enrico, North, Kathryn, Ryan, Monique M., Richard, Pascale, Allamand, Valérie, Hicks, Debbie, Lamandé, Shireen, Hu, Ying, Gualandi, Francesca, Auh, Sungyoung, Muntoni, Francesco, Bönnemann, Carsten G.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies حسب Bolduc, Véronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric, Wilton, Steve D., Lamandé, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco, Bönnemann, Carsten G.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل