Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
Brande, Laura, Bauché, Stéphanie, Pérez‐Guàrdia, Laura, Sternberg, Damien, Seferian, Andreea M., Malfatti, Edoardo, Silva‐Rojas, Roberto, Labasse, Clémence, Chevessier, Frédéric, Carlier, Pierre, Eymard, Bruno, Romero, Norma B., Laporte, Jocelyn, Servais, Laurent, Gidaro, Teresa, Böhm, Johann
Published in Neuropathology and applied neurobiology (01.02.2024)
Published in Neuropathology and applied neurobiology (01.02.2024)
Get full text
Journal Article
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon‐Gawinska, Karolina, Daron, Aurore, Ulinici, Ana, Vanden Brande, Laura, Seferian, Andreea, Gidaro, Teresa, Scoto, Mariacristina, Deconinck, Nicolas, Servais, Laurent, Benezit, Audrey, Mathieu, Marie‐Laure, Cances, Claude, Durigneux, Julien, Ropars, Juliette, Chouchane, Mondher, Forey, Peggy, Lazaro, Leila, Hughes, Imelda, Illingworth, Marjorie, Marini‐Bettolo, Chiara, Cuppen, Inge, Modrzejewska, Sandra, Balintova, Zdenka, Haberlova, Jana, Drimtzia, Kate, Blaschek, Astrid, Ambegankoar, Gautam, Annoussamy, Melanie
Published in Developmental medicine and child neurology (01.03.2020)
Published in Developmental medicine and child neurology (01.03.2020)
Get full text
Journal Article
Web Resource
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping
Mercuri, E., Seferian, A.M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Deconinck, Nicolas, Van Coster, Rudy, Vanlander, Arnaud, Seferian, Andreea, De Lucia, Silvana, Gidaro, Teresa, Brande, Laura Vanden, Servais, Laurent, Kirschner, Janbernd, Borell, Sabine, Mercuri, Eugenio, Brogna, Claudia, Pane, Marika, Fanelli, Lavinia, Norcia, Giulia, Muntoni, Francesco, Brusa, Chiara, Chesshyre, Mary, Maresh, Kate, Pitchforth, Jaqueline, Schottlaender, Lucia, Scoto, Mariacristina, Silwal, Arpana, Trucco, Fedrica
Published in Neuromuscular disorders : NMD (01.06.2023)
Published in Neuromuscular disorders : NMD (01.06.2023)
Get full text
Journal Article