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1دورية أكاديميةCCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity
المؤلفون: Perez B. A., Shorrock H. K., Banez-Coronel M., Zu T., Romano L. E. L., Laboissonniere L. A., Reid T., Ikeda Y., Reddy K., Gomez C. M., Bird T., Ashizawa T., Schut L. J., Brusco A., Berglund J. A., Hasholt L. F., Nielsen J. E., Subramony S. H., Ranum L. P. W.
المساهمون: Perez B.A., Shorrock H.K., Banez-Coronel M., Zu T., Romano L.E.L., Laboissonniere L.A., Reid T., Ikeda Y., Reddy K., Gomez C.M., Bird T., Ashizawa T., Schut L.J., Brusco A., Berglund J.A., Hasholt L.F., Nielsen J.E., Subramony S.H., Ranum L.P.W.
مصطلحات موضوعية: cis-modifier, RAN translation, reduced penetrance, sequence interruption, spinocerebellar ataxia type 8
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34632710; info:eu-repo/semantics/altIdentifier/wos/WOS:000705215000001; volume:e14095; firstpage:1; lastpage:15; numberofpages:15; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2318/1815198Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116739014
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2دورية أكاديمية
المؤلفون: Orth, M, Handley, OJ, Schwenke, C, Dunnett, S, Wild, EJ, Tabrizi, SJ, Landwehrmeyer, GB, Bachoud-Levi, AC, Bentivoglio, AR, Biunno, I, Bonelli, R, Burgunder, JM, Dunnett, SB, Ferreira, JJ, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Levey, J, Nielsen, JE, Paivarinta, M, Roos, RAC, Sebastian, AR, Vandenberghe, W, Verellen-Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Wallner, M, Barth, K, Guedes, LC, Finisterra, AM, Garde, MB, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laura, M, Descals, AM, McLean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, SP, Rialland, A, Roren, N, Sasinkova, P, Cubillo, PT, Tritsch, C, van Walsem, MR, Witjes-Ane, MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, RM, Herranhof, B, Holl, A, Kapfhammer, HP, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Muller, N, Schoggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, EM, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, EM, Sinadinosa, D, Walleczek, AM, Ladurner, G, Staffen, W, Ribai, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempir, J, Kucharik, M, Roth, J, Senkarova, Z, Hasholt, L, Hjermind, LE, Jakobsen, O, Norremolle, A, Sorensen, SA, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Karppa, M, Aman, J, Santala, M, Allain, P, Guerid, MA, Gohier, B, Olivier, A, Prundean, A, Scherer-Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucriere, D, De Bruycker, C, Carette, AS, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault-Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, JP, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, MA, Calvas, F, Cheriet, S, Demonet, JF, Galitzky, M, Kosinski, CM, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, CJ, Gelderblom, H, Priller, J, Pruss, H, Spruth, EJ, Andrich, J, Hoffmann, R, Kraus, PH, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Lohle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Burk, K, Moller, JC, Rissling, I, Peinemann, A, Stadtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Holzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic-Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Sussmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Russo, CV, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout, MSE, van Vugt, JPP, de Weert, AM, Bolwijn, JJW, Dekker, M, Leenders, KL, van Oostrom, JCH, Dumas, EM, Jurgens, CK, van den Bogaard, SJA, 't Hart, EP, Kremer, B, Verstappen, CCP, Frich, J, Wehus, R, Aaserud, O, Borgerod, N, Bjorgo, K, Fannemel, M, Gorvell, P, Retterstol, L, Overland, T, Stokke, B, Bjornevoll, I, Sando, SB, Blinkenberg, EO, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska-Jedynak, M, Jasinska-Myga, B, Opala, G, Klodowska-Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzinska, M, Wojcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempolowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sulek, A, Krysa, W, Julio, F, Januario, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timoteo, A, Costa, C, Vale, J, Cavaco, S, Damasio, J, Magalhaes, M, Gago, M, Garrett, C, Guerra, MR, Solis, P, Herrera, CD, Garcia, PM, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sanchez, J, Alonso-Frech, F, Perez, MR, Fenollar, M, Garcia, RGR, Quiroga, PP, Rivera, SV, Villanueva, C, Bascunana, M, Ventura, MF, Ribas, GG, de Yebenes, JG, Moreno, JLLS, Ruiz, PJG, Artiga, MJS, Sanchez, V, Perea, MFN, Lorenza, F, Torres, MMA, Reinante, G, Moreau, LV, Barbera, MA, Guia, DB, Hernanz, LC, Catena, JL, Ferrer, PQ, Carruesco, GT, Bas, J, Busquets, N, Calopa, M, Buongiorno, MT, Munoz, E, Elorza, MD, Lopez, CDA, Terol, SDS, Robert, MF, Ruiz, BG, Casado, AG, Martinez, IH, Viladrich, CM, Cardenas, RPI, Roca, E, Llesoy, JR, Idiago, JMR, Vergara, MR, Garcia, SS, Riballo, AV, Gonzalez, SG, Guisasola, LM, Salvador, C, San Martin, ES, Gorospe, A, Legarda, I, Arques, PN, Rodriguez, MJT, Vives, B, Gaston, I, Ramos-Arroyo, MA, Moreno, JMG, Pena, JC, Avarvarei, LD, Bastida, AM, Recio, MF, Verge, LR, Sanchez, VS, Carrillo, F, Caceres, MT, Mir, P, Suarez, MJL, Bosca, M, Burguera, JA, Garcia, AC, Martinez, LM, del Val, JL, Loutfi, G, Olofsson, C, Stattin, EL, Westman, L, Wikstrom, B, Hoglund, A, Palhagen, SE, Paucar, M, Sandstrom, B, Soltani, R, Svenningsson, P, Reza-Soltani, TW, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Neleborn-Lingefjard, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Bjorn, Y, Ekwall, C, Goller, ML, Johansson, A, Wiklund, L, Petersen, A, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, RA, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison-Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, McGill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington-Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender-Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, AH, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O, Massaro, F, Mechi, C, Paganini, M
المصدر: Journal of neurology, neurosurgery, and psychiatry. 82(12):1409
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Nielsen, SMB, Josefsen, K, Folmann, LB, Køhler, L, Nørremølle, A, Hasholt, L
مصطلحات موضوعية: Pathogenic mechanisms
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/83/Suppl_1/A11-aiTest; http://dx.doi.org/10.1136/jnnp-2012-303524.35Test
الإتاحة: https://doi.org/10.1136/jnnp-2012-303524.35Test
http://jnnp.bmj.com/cgi/content/short/83/Suppl_1/A11-aiTest -
4دورية أكاديمية
المؤلفون: Hasholt, L, Nielsen, S B, Skotte, N H, Nielsen, J E, Nørremølle, A
مصطلحات موضوعية: EHDN Plenary Meeting: abstracts
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/81/Suppl_1/A35-bTest; http://dx.doi.org/10.1136/jnnp.2010.222653.7Test
الإتاحة: https://doi.org/10.1136/jnnp.2010.222653.7Test
http://jnnp.bmj.com/cgi/content/short/81/Suppl_1/A35-bTest -
5دورية أكاديمية
المؤلفون: Knecht, W, Rozpedowska, E, Le Breton, C, Willer, M, Gojkovic, Z, Sandrini, M P B, Joergensen, T, Hasholt, L, Munch-Petersen, B, Piskur, J
المصدر: Gene Therapy ; volume 14, issue 17, page 1278-1286 ; ISSN 0969-7128 1476-5462
مصطلحات موضوعية: Genetics, Molecular Biology, Molecular Medicine
الإتاحة: https://doi.org/10.1038/sj.gt.3302982Test
https://www.nature.com/articles/3302982.pdfTest
https://www.nature.com/articles/3302982Test -
6دورية أكاديمية
المؤلفون: Krogh Rasmussen, Å, Mersebach, H, Hasholt, L, Rosenberg, K M, Sörensen, S A, Feldt-Rasmussen, U F
المصدر: Ugeskrift for Laeger. 163(39):5382
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7دورية أكاديمية
المؤلفون: Feldt-Rasmussen, U, Rasmussen, AK, Mersebach, H, Rosenberg, KM, Hasholt, L, Sorensen, SA
المصدر: European Journal of Endocrinology ; page 741-742 ; ISSN 0804-4643 1479-683X
مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1530/eje.0.1460741Test
https://eje.bioscientifica.com/view/journals/eje/146/6/741.xmlTest -
8دورية أكاديمية
المؤلفون: Nielsen, J E, Krabbe, K, Jennum, P, Koefoed, P, Jensen, L Neerup, Fenger, K, Eiberg, H, Hasholt, L, Werdelin, L, Sørensen, S A
مصطلحات موضوعية: Papers
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/64/1/61Test; http://dx.doi.org/10.1136/jnnp.64.1.61Test
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9دورية أكاديمية
المؤلفون: Nielsen, J. E., Koefoed, P., Abell, K., Hasholt, L., Eiberg, H., Fenger, K., Niebuhr, E., Sorensen, S. A.
المصدر: Human Molecular Genetics ; volume 6, issue 11, page 1811-1816 ; ISSN 0964-6906 1460-2083
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine
الإتاحة: https://doi.org/10.1093/hmg/6.11.1811Test
http://academic.oup.com/hmg/article-pdf/6/11/1811/1998236/6-11-1811.pdfTest -
10دورية أكاديمية
المؤلفون: Madsen, K. M., Hasholt, L., Berger, J., Sorensen, S. A.
المصدر: Molecular Pathology ; volume 49, issue 5, page M310-M312 ; ISSN 1366-8714
مصطلحات موضوعية: Pathology and Forensic Medicine