Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J.L.F, van der Vliet, Patrick J, Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G, Snider, Lauren, Straasheijm, Kirsten R, Jan van Ommen, Gert, Padberg, George W, Miller, Daniel G, Tapscott, Stephen J, Tawil, Rabi, Frants, Rune R, van der Maarel, Silvère M
Published in Science (American Association for the Advancement of Science) (24.09.2010)
Published in Science (American Association for the Advancement of Science) (24.09.2010)
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Journal Article
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation
Vecellio Reane, Denis, Cerqua, Cristina, Sacconi, Sabrina, Salviati, Leonardo, Trevisson, Eva, Raffaello, Anna
Published in International journal of molecular sciences (24.02.2022)
Published in International journal of molecular sciences (24.02.2022)
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Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy: An ultra-high frequency ultrasound comparison of nerve structure
Puma, Angela, Grecu, Nicolae, Badea, Raluca Ș., Morisot, Adeline, Zugravu, Roxana, Ioncea, Mihai B., Cavalli, Michele, Lăcătuș, Oana, Ezaru, Andra, Hacina, Chorfa, Villa, Luisa, Raffaelli, Charles, Azulay, Nicolas, Sacconi, Sabrina
Published in Scientific reports (26.02.2024)
Published in Scientific reports (26.02.2024)
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Journal Article
A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability
Davidovic, Laetitia, Durand, Nelly, Khalfallah, Olfa, Tabet, Ricardo, Barbry, Pascal, Mari, Bernard, Sacconi, Sabrina, Moine, Hervé, Bardoni, Barbara
Published in PLoS genetics (01.03.2013)
Published in PLoS genetics (01.03.2013)
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Journal Article
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
Lemmers, Richard J L F, van der Vliet, Patrick J, Granado, David San Leon, van der Stoep, Nienke, Buermans, Henk, van Schendel, Robin, Schimmel, Joost, de Visser, Marianne, van Coster, Rudy, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C, Rogers, Mark, van der Maarel, Silvère M
Published in Human molecular genetics (03.03.2022)
Published in Human molecular genetics (03.03.2022)
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Journal Article
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
Published in Journal of neurology (01.03.2019)
Published in Journal of neurology (01.03.2019)
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Journal Article
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
Salort-Campana, Emmanuelle, Solé, Guilhem, Magot, Armelle, Tard, Céline, Noury, Jean-Baptiste, Behin, Anthony, De La Cruz, Elisa, Boyer, François, Lefeuvre, Claire, Masingue, Marion, Debergé, Louise, Finet, Armelle, Brison, Mélanie, Spinazzi, Marco, Pegat, Antoine, Sacconi, Sabrina, Malfatti, Edoardo, Choumert, Ariane, Bellance, Rémi, Bedat-Millet, Anne-Laure, Feasson, Léonard, Vuillerot, Carole, Jacquin-Piques, Agnès, Michaud, Maud, Pereon, Yann, Stojkovic, Tanya, Laforêt, Pascal, Attarian, Shahram, Cintas, Pascal
Published in Orphanet journal of rare diseases (24.01.2024)
Published in Orphanet journal of rare diseases (24.01.2024)
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Journal Article
Meeting report: the 2021 FSHD International Research Congress
Jagannathan, Sujatha, de Greef, Jessica C, Hayward, Lawrence J, Yokomori, Kyoko, Gabellini, Davide, Mul, Karlien, Sacconi, Sabrina, Arjomand, Jamshid, Kinoshita, June, Harper, Scott Q
Published in Skeletal muscle (17.01.2022)
Published in Skeletal muscle (17.01.2022)
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Journal Article
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
de Greef, Jessica C, Lemmers, Richard J.L.F, van Engelen, Baziel G.M, Sacconi, Sabrina, Venance, Shannon L, Frants, Rune R, Tawil, Rabi, van der Maarel, Silvère M
Published in Human mutation (01.10.2009)
Published in Human mutation (01.10.2009)
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Journal Article
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy
Mariot, Virginie, Roche, Stephane, Hourdé, Christophe, Portilho, Debora, Sacconi, Sabrina, Puppo, Francesca, Duguez, Stephanie, Rameau, Philippe, Caruso, Nathalie, Delezoide, Anne-Lise, Desnuelle, Claude, Bessières, Bettina, Collardeau, Sophie, Feasson, Leonard, Maisonobe, Thierry, Magdinier, Frederique, Helmbacher, Françoise, Butler-Browne, Gillian, Mouly, Vincent, Dumonceaux, Julie
Published in Annals of neurology (01.09.2015)
Published in Annals of neurology (01.09.2015)
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Journal Article
The French National Registry of patients with Facioscapulohumeral muscular dystrophy
Guien, Céline, Blandin, Gaëlle, Lahaut, Pauline, Sanson, Benoît, Nehal, Katia, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Lévy, Nicolas, Sacconi, Sabrina, Béroud, Christophe
Published in Orphanet journal of rare diseases (04.12.2018)
Published in Orphanet journal of rare diseases (04.12.2018)
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Journal Article
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
Salort-Campana, Emmanuelle, Fatehi, Farzad, Beloribi-Djefaflia, Sadia, Roche, Stéphane, Nguyen, Karine, Bernard, Rafaelle, Cintas, Pascal, Solé, Guilhem, Bouhour, Françoise, Ollagnon, Elisabeth, Sacconi, Sabrina, Echaniz-Laguna, Andoni, Kuntzer, Thierry, Levy, Nicolas, Magdinier, Frédérique, Attarian, Shahram
Published in International journal of molecular sciences (23.03.2020)
Published in International journal of molecular sciences (23.03.2020)
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Journal Article
Efficacy and safety of rozanolixizumab in patients with muscle-specific tyrosine kinase autoantibody-positive generalised myasthenia gravis: a subgroup analysis of the randomised, double-blind, placebo-controlled, adaptive phase III MycarinG study
Habib, Ali A, Sacconi, Sabrina, Antonini, Giovanni, Cortés-Vicente, Elena, Grosskreutz, Julian, Mahuwala, Zabeen K, Mantegazza, Renato, Pascuzzi, Robert M, Utsugisawa, Kimiaki, Vissing, John, Vu, Tuan, Wiendl, Heinz, Boehnlein, Marion, Greve, Bernhard, Woltering, Franz, Bril, Vera
Published in Therapeutic advances in neurological disorders (01.01.2024)
Published in Therapeutic advances in neurological disorders (01.01.2024)
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Journal Article
2999 Response to rozanolixizumab across treatment cycles in patients with generalised myasthenia gravis: a post hoc analysis
Welton, Jeremy, Pascuzzi, Robert M, Grosskreutz, Julian, Habib, Ali A, Mahuwala, Zabeen K, Mantegazza, Renato, Sacconi, Sabrina, Vissing, John, Vu, Tuan, Lejdstrom, Raphaëlle Beau, Greve, Bernhard, Grimson, Fiona, Tarancón, Thaïs, Bril, Vera
Published in BMJ neurology open (01.08.2024)
Published in BMJ neurology open (01.08.2024)
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Journal Article
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy
Ottaviani, Alexandre, Rival-Gervier, Sylvie, Boussouar, Amina, Foerster, Andrea M, Rondier, Delphine, Sacconi, Sabrina, Desnuelle, Claude, Gilson, Eric, Magdinier, Frédérique
Published in PLoS genetics (01.02.2009)
Published in PLoS genetics (01.02.2009)
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Journal Article
The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version
Dany, Antoine, Rapin, Amandine, Lavrard, Brice, Saoût, Virginie, Réveillère, Christian, Bassez, Guillaume, Tiffreau, Vincent, Péréon, Yann, Sacconi, Sabrina, Eymard, Bruno, Dramé, Moustapha, Jolly, Damien, Novella, Jean‐Luc, Hardouin, Jean‐Benoit, Boyer, François C.
Published in Muscle & nerve (01.12.2017)
Published in Muscle & nerve (01.12.2017)
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Journal Article
3024 COMET post hoc analysis: efficacy of long-term avalglucosidase alfa in subgroups of patients with late-onset Pompe disease
Henderson, Robert, Toscano, Antonio, Kishnani, Priya S, Dimachkie, Mazen M, Sacconi, Sabrina, Roberts, Mark, Suwazono, Shugo, Choi, Young Chul, Sgobbi de Souza, Paulo Victor, Schoser, Benedikt, Armstrong, Nicole, Huynh-Ba, Olivier, Thibault, Nathan, Periquet, Magali, Díaz-Manera, Jordi
Published in BMJ neurology open (01.08.2024)
Published in BMJ neurology open (01.08.2024)
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Journal Article
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinós, Tomàs, Andreu, Antoni L, Bruno, Claudio, Hadjigeorgiou, Georgios M, Haller, Ronald G, Laforêt, Pascal, Lucía, Alejandro, Martín, Miguel A, Martinuzzi, Andrea, Navarro, Carmen, Oflazer, Piraye, Pouget, Jean, Quinlivan, Ros, Sacconi, Sabrina, Scalco, Renata S, Toscano, Antonio, Vissing, John, Vorgerd, Matthias, Wakelin, Andrew, Martí, Ramon
Published in Orphanet journal of rare diseases (15.10.2020)
Published in Orphanet journal of rare diseases (15.10.2020)
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Journal Article
Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis
Jacome Burbano, Maria Sol, Robin, Jérôme D., Bauwens, Serge, Martin, Marjorie, Donati, Emma, Martínez, Lucia, Lin, Peipei, Sacconi, Sabrina, Magdinier, Frédérique, Gilson, Eric
Published in Communications biology (25.05.2023)
Published in Communications biology (25.05.2023)
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