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4دورية أكاديميةSNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
المؤلفون: Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M, Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G, Stettner, Georg M, Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie
المساهمون: Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M, Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G, Stettner, Georg M, Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie
مصطلحات موضوعية: SNURPORTIN, ribonucleoprotein
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38413582; info:eu-repo/semantics/altIdentifier/wos/WOS:001178774300021; volume:15; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/968046Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85186742934; https://www.nature.com/articles/s41467-024-45933-5Test
الإتاحة: https://doi.org/10.1038/s41467-024-45933-5Test
https://hdl.handle.net/11585/968046Test
https://www.nature.com/articles/s41467-024-45933-5Test -
5دورية أكاديمية
المؤلفون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Inés, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thomas, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, McConville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, James, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’di, Qais, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, James, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, null, null
المساهمون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa
مصطلحات موضوعية: canva, rfc1, Southern blotting
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38193360; numberofpages:31; journal:BRAIN; https://hdl.handle.net/11573/1702715Test
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6دورية أكاديمية
المؤلفون: Dohrn, Maike F, Beijer, Danique, Lone, Museer A, Bayraktar, Elif, Oflazer, Piraye, Orbach, Rotem, Donkervoort, Sandra, Foley, A Reghan, Rose, Aubrey, Lyons, Michael, Louie, Raymond J, Gable, Kenneth, Dunn, Teresa, Chen, Sitong, Danzi, Matt C, Synofzik, Matthis, Bönnemann, Carsten G, NazlıBasak, A, Hornemann, Thorsten, Zuchner, Stephan
مصطلحات موضوعية: Neurogenetics
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/95/3/201Test; http://dx.doi.org/10.1136/jnnp-2023-332130Test
الإتاحة: https://doi.org/10.1136/jnnp-2023-332130Test
http://jnnp.bmj.com/cgi/content/short/95/3/201Test -
7دورية أكاديمية
المؤلفون: Kulsirichawaroj, Pimchanok, Suksangkharn, Yanin, Nam, Da Eun, Pho-Iam, Theeraphong, Limwongse, Chanin, Chung, Ki Wha, Sanmaneechai, Oranee, Zuchner, Stephan L, Choi, Byung-Ok
المصدر: Journal of neuromuscular diseases 11(1), 191 - 199 (2024). doi:10.3233/JND-230174
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Child, Adolescent, Humans, Thailand, Charcot-Marie-Tooth Disease: genetics, Charcot-Marie-Tooth Disease: diagnosis, Mutation, Genotype, Charcot-Marie-Tooth disease, Genotype-phenotype correlations, Inherited peripheral neuropathy, Pediatric-onset
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:37927275; info:eu-repo/semantics/altIdentifier/issn/2214-3599; info:eu-repo/semantics/altIdentifier/issn/2214-3602; https://pub.dzne.de/record/266786Test; https://pub.dzne.de/search?p=id:%22DZNE-2024-00044%22Test
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8دورية أكاديمية
المؤلفون: Pellerin, David, Danzi, Matt C., Renaud, Mathilde, Houlden, Henry, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard
المساهمون: Else Kröner-Fresenius-Stiftung, Deutsche Forschungsgemeinschaft, National Institute of Neurological Disorders and Stroke, Wellcome Trust, Medical Research Council, UCLH Biomedical Research Centre
المصدر: Clinical and Translational Medicine ; volume 14, issue 1 ; ISSN 2001-1326 2001-1326
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9دورية أكاديمية
المؤلفون: Kartanou, Chrisoula, Mitrousias, Alexandros, Pellerin, David, Kontogeorgiou, Zoi, Iruzubieta, Pablo, Dicaire, Marie‐Josée, Danzi, Matt C., Koniari, Chrysoula, Athanassopoulos, Konstantinos, Panas, Marios, Stefanis, Leonidas, Zuchner, Stephan, Brais, Bernard, Houlden, Henry, Karadima, Georgia, Koutsis, Georgios
المصدر: Clinical Genetics ; volume 105, issue 4, page 446-452 ; ISSN 0009-9163 1399-0004
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10دورية أكاديمية
المؤلفون: Record, Christopher J, Pipis, Menelaos, Skorupinska, Mariola, Blake, Julian, Poh, Roy, Polke, James M, Eggleton, Kelly, Nanji, Tina, Zuchner, Stephan, Cortese, Andrea, Houlden, Henry, Rossor, Alexander M, Laura, Matilde, Reilly, Mary M
المصدر: Brain ; ISSN 0006-8950 1460-2156