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57 results for Sacconi,+Sabrina

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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Author / Creator: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
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653
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Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report
Author / Creator:Puma, Angela ; Benoit, Jeanne ; Sacconi, Sabrina ; Uncini, Antonino
Publisher:England: BioMed Central
Journal title:BMC neurology, 2018-07, Vol.18 (1), p.101-101, Article 101
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Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy: An ultra-high frequency ultrasound comparison of nerve structure
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-02, Vol.14 (1), p.4643-4643, Article 4643
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A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability
Author / Creator:Davidovic, Laetitia ; Durand, Nelly ; Khalfallah, Olfa ; Tabet, Ricardo ; Barbry, Pascal ; Mari, Bernard ; Sacconi, Sabrina ; Moine, Hervé ; Bardoni, Barbara
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-03, Vol.9 (3), p.e1003367-e1003367
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Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data
Author / Creator:Slioui, Abderhmane ; Tammam, Giulia ; Vanoli, Fiammetta ; Marina, Adela Della ; Vohanka, Stanislav ; Gilhus, Nils Erik ; Moroni, Isabella ; Leite, Maria Isabel ; Piehl, Fredrik ; Antozzi, Carlo ; Pini, Jonathan ; Stascheit, Frauke ; Attarian, Shahram ; Santos, Ernestina ; Verschuuren, Jan ; Canonge, Lou ; Garcia, Jeremy ; Perriard, Caroline ; Cortés-Vicente, Elena ; Mantegazza, Renato ; Meisel, Andreas ; Sacconi, Sabrina
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-03, Vol.20 (1), p.115-13, Article 115
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SPOON: an observational, cross-sectional study of perceptions and expectations of adults with generalised myasthenia gravis in France
Author / Creator:Camdessanché, Jean-Philippe ; Sacconi, Sabrina ; Archer, Annie ; Boulanger, Pierre ; Crochard, Anne ; Bertocchio, Jean-Philippe ; Richard, Aliénor ; Villy, Pierre-Edouard ; Solé, Guilhem
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2024-12, Vol.14 (12), p.e088813
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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, placeb...
Author / Creator: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
Publisher:London, England: SAGE Publications
Journal title:Therapeutic advances in neurological disorders, 2024-01, Vol.17, p.17562864241273036
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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2019-03, Vol.266 (3), p.680-690
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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.24-13, Article 24
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Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
Author / Creator:LoRusso, Samantha ; Johnson, Nicholas E ; McDermott, Michael P ; Eichinger, Katy ; Butterfield, Russell J ; Carraro, Elena ; Higgs, Kiley ; Lewis, Leann ; Mul, Karlien ; Sacconi, Sabrina ; Sansone, Valeria A ; Shieh, Perry ; van Engelen, Baziel ; Wagner, Kathryn ; Wang, Leo ; Statland, Jeffrey M ; Tawil, Rabi
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2019-09, Vol.19 (1), p.224-224, Article 224
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Meeting report: the 2021 FSHD International Research Congress
Author / Creator:Jagannathan, Sujatha ; de Greef, Jessica C ; Hayward, Lawrence J ; Yokomori, Kyoko ; Gabellini, Davide ; Mul, Karlien ; Sacconi, Sabrina ; Arjomand, Jamshid ; Kinoshita, June ; Harper, Scott Q
Publisher:England: BioMed Central Ltd
Journal title:Skeletal muscle, 2022-01, Vol.12 (1), p.1-1, Article 1
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The French National Registry of patients with Facioscapulohumeral muscular dystrophy
Author / Creator:Guien, Céline ; Blandin, Gaëlle ; Lahaut, Pauline ; Sanson, Benoît ; Nehal, Katia ; Rabarimeriarijaona, Sitraka ; Bernard, Rafaëlle ; Lévy, Nicolas ; Sacconi, Sabrina ; Béroud, Christophe
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.218-218, Article 218
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2999 Response to rozanolixizumab across treatment cycles in patients with generalised myasthenia gravis: a post hoc analysis
Author / Creator: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
Publisher:London: BMJ Publishing Group Ltd
Journal title:BMJ neurology open, 2024-08, Vol.6 (Suppl 1), p.A13-A13
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.187-11, Article 187
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The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy
Author / Creator:Ottaviani, Alexandre ; Rival-Gervier, Sylvie ; Boussouar, Amina ; Foerster, Andrea M ; Rondier, Delphine ; Sacconi, Sabrina ; Desnuelle, Claude ; Gilson, Eric ; Magdinier, Frédérique
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2009-02, Vol.5 (2), p.e1000394-e1000394
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3024 COMET post hoc analysis: efficacy of long-term avalglucosidase alfa in subgroups of patients with late-onset Pompe disease
Author / Creator: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
Publisher:London: BMJ Publishing Group Ltd
Journal title:BMJ neurology open, 2024-08, Vol.6 (Suppl 1), p.A18-A19
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Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis
Author / Creator:Jacome Burbano, Maria Sol ; Robin, Jérôme D. ; Bauwens, Serge ; Martin, Marjorie ; Donati, Emma ; Martínez, Lucia ; Lin, Peipei ; Sacconi, Sabrina ; Magdinier, Frédérique ; Gilson, Eric
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2023-05, Vol.6 (1), p.561-561, Article 561
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Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease
Author / Creator:Dany, Antoine ; Barbe, Coralie ; Rapin, Amandine ; Réveillère, Christian ; Hardouin, Jean-Benoit ; Morrone, Isabella ; Wolak-Thierry, Aurore ; Dramé, Moustapha ; Calmus, Arnaud ; Sacconi, Sabrina ; Bassez, Guillaume ; Tiffreau, Vincent ; Richard, Isabelle ; Gallais, Benjamin ; Prigent, Hélène ; Taiar, Redha ; Jolly, Damien ; Novella, Jean-Luc ; Boyer, François Constant
Publisher:Cham: Springer
Journal title:Quality of life research, 2015-11, Vol.24 (11), p.2615-2623
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Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
Author / Creator:Casarin, Alberto ; Giorgi, Gianpietro ; Pertegato, Vanessa ; Siviero, Roberta ; Cerqua, Cristina ; Doimo, Mara ; Basso, Giuseppe ; Sacconi, Sabrina ; Cassina, Matteo ; Rizzuto, Rosario ; Brosel, Sonja ; M Davidson, Mercy ; Dimauro, Salvatore ; Schon, Eric A ; Clementi, Maurizio ; Trevisson, Eva ; Salviati, Leonardo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-04, Vol.7 (1), p.21-21, Article 21
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Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
Author / Creator:Sacconi, Sabrina ; Salviati, Leonardo ; Trevisson, Eva
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2009-07, Vol.54 (7), p.419-421
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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report

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Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy: An ultra-high frequency ultrasound comparison of nerve structure

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A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability

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Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data

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SPOON: an observational, cross-sectional study of perceptions and expectations of adults with generalised myasthenia gravis in France

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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, placeb...

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

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Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

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Meeting report: the 2021 FSHD International Research Congress

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The French National Registry of patients with Facioscapulohumeral muscular dystrophy

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2999 Response to rozanolixizumab across treatment cycles in patients with generalised myasthenia gravis: a post hoc analysis

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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

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The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy

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3024 COMET post hoc analysis: efficacy of long-term avalglucosidase alfa in subgroups of patients with late-onset Pompe disease

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Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis

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Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease

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Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

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Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency

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