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Cognitive assessment in patients with myotonic dystrophy type 2 Peric, Stojan; Gunjic, Ilija; Delic, Neda; Tamas, Olivera Stojiljkovic; Salak-Djokic, Biljana; Pesovic, Jovan; Djordjevic, Ivana Petrovic; Ivanovic, Vukan; Savic-Pavicevic, Dusanka; Meola, Giovanni; Rakocevic-Stojanovic, Vidosava 分享 收藏
Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis 强直性肌营养不良症1型的白质损伤的病变分布和底物: 与多发性硬化症的比较 Leddy, Sara; Serra, Laura; Esposito, Davide; Vizzotto, Camilla; Giulietti, Giovanni; Silvestri, Gabriella; Petrucci, Antonio; Meola, Giovanni; Lopiano, Leonardo; Cercignani, Mara; Bozzali, Marco 分享 收藏
Ventral tegmental area dysfunction affects decision -making in patients with myotonic dystrophy type-1 腹侧被盖区功能障碍影响1型强直性肌营养不良患者的决策 Serra, Laura; Scocchia, Marta; Meola, Giovanni; D'Amelio, Marcello; Bruschini, Michela; Silvestri, Gabriella; Petrucci, Antonio; Di Domenico Carlotta; Caltagirone, Carlo; Koch, Giacomo; Cercignani, Mara; Petrosini, Laura; Bozzali, Marco 分享 收藏
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1 1型强直性肌营养不良患者的异常皮质厚度与社会认知缺陷相关 Serra, Laura; Bianchi, Guendalina; Bruschini, Michela; Giulietti, Giovanni; Di Domenico, Carlotta; Bonarota, Sabrina; Petrucci, Antonio; Silvestri, Gabriella; Perna, Alessia; Meola, Giovanni; Caltagirone, Carlo; Bozzali, Marco 分享 收藏
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies 表观遗传修饰剂的异常调节有助于硒蛋白N相关肌病患者的发病机制 Bachmann, Christoph; Noreen, Faiza; Voermans, Nicol C.; Schaer, Primo L.; Vissing, John; Fock, Johanna M.; Bulk, Saskia; Kusters, Benno; Moore, Steven A.; Beggs, Alan H.; Mathews, Katherine D.; Meyer, Megan; Genetti, Casie A.; Meola, Giovanni; Cardani, Rosanna; Mathews, Emma; Jungbluth, Heinz; Muntoni, Francesco; Zorzato, Francesco; Treves, Susan 分享 收藏
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Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2 Spitalieri, Paola; Talarico, Rosa V.; Murdocca, Michela; Fontana, Luana; Marcaurelio, Marzia; Campione, Elena; Massa, Roberto; Meola, Giovanni; Serafino, Annalucia; Novelli, Giuseppe; Sangiuolo, Federica; Botta, Annalisa 分享 收藏
SCN4A as modifier gene in patients with myotonic dystrophy type 2 Binda, Anna; Renna, Laura V.; Bose, Francesca; Brigonzi, Elisa; Botta, Annalisa; Valaperta, Rea; Fossati, Barbara; Rivolta, Ilaria; Meola, Giovanni; Cardani, Rosanna 分享 收藏
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel 先天性肌强直突变的分析揭示了CBS2结构域内的氨基酸功能簇和ClC-1通道的C端肽 Altamura, Concetta; Lucchiari, Sabrina; Sahbani, Dalila; Ulzi, Gianna; Comi, Giacomo P.; D'Ambrosio, Paola; Petillo, Roberta; Politano, Luisa; Vercelli, Liliana; Mongini, Tiziana; Dotti, Maria Teresa; Cardani, Rosanna; Meola, Giovanni; Lo Monaco, Mauro; Matthews, Emma; Hanna, Michael G.; Carratu, Maria Rosaria; Conte, Diana; Imbrici, Paola; Desaphy, Jean-Francois 分享 收藏
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2 Cappella, Marisa; Perfetti, Alessandra; Cardinali, Beatrice; Garcia-Manteiga, Jose Manuel; Carrara, Matteo; Provenzano, Claudia; Fuschi, Paola; Cardani, Rosanna; Renna, Laura Valentina; Meola, Giovanni; Falcone, Germana; Martelli, Fabio 分享 收藏
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences Sellier, Chantal; Cerro-Herreros, Estefania; Blatter, Markus; Freyermuth, Fernande; Gaucherot, Angeline; Ruffenach, Frank; Sarkar, Partha; Puymirat, Jack; Udd, Bjarne; Day, John W.; Meola, Giovanni; Bassez, Guillaume; Fujimura, Harutoshi; Takahashi, Masanori P.; Schoser, Benedikt; Furling, Denis; Artero, Ruben; Allain, Frederic H. T.; Llamusi, Beatriz; Charlet-Berguerand, Nicolas 分享 收藏
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