المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E

المصدر: Neurology. 91(13):E1215-E1219

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139754915

المؤلفون: Watts LM, Bunyan DJ, Giacopuzzi E, Walker S, Gazdagh G, Thomas NS, Straub V, Childs A-M, Forsyth J, Vogt J, Khan S, Willis TA, Taylor JC, Pagnamenta AT

المصدر: Brain Communications, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/301958; https://eprints.ncl.ac.uk/fulltext.aspx?url=301958/AEC94189-C006-4022-9DA2-15DD7E23517D.pdf&pub_id=301958

الاتاحة: https://eprints.ncl.ac.uk/301958

المؤلفون: Landfeldt, E, Alfredsson, L, Straub, V, Lochmuller, H, Bushby, K, Lindgren, P

المصدر: PharmacoEconomics. 35(2):249-258

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135148077

المؤلفون: Landfeldt, E, Lindgren, P, Bell, CF, Guglieri, M, Straub, V, Lochmuller, H, Bushby, K

المصدر: Developmental medicine and child neurology. 58(5):508-515

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133381197

المؤلفون: Landfeldt, E, Lindgren, P, Bell, CF, Guglieri, M, Straub, V, Lochmuller, H, Bushby, K

المصدر: Journal of neurology. 263(5):906-915

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133584967

المؤلفون: Monceau A, Nath RG, Suarez-Calvet X, Musumeci O, Toscano A, Kierdaszuk B, Kostera-Pruszczyk A, Dominguez-Gonzalez C, Hernandez-Lain A, Paradas C, Rivas E, Papadimas G, Papadopoulos C, Chrysanthou-Piterou M, Gallardo E, Olivé M, Lilleker J, Roberts ME, Marchese D, Lunazzi G, Heyn H, Fernandez-Simon E, Villalobos E, Clark J, Katsikis P, Collins C, Mehra P, Laidler Z, Vincent A, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Raben N, Diaz-Manera J

المصدر: Brain, 1 December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303285; https://eprints.ncl.ac.uk/fulltext.aspx?url=303285/2162C734-DF1A-4902-A96A-F0FC484101D2.pdf&pub_id=303285

الاتاحة: https://eprints.ncl.ac.uk/303285

المؤلفون: Straub, V

الاتاحة: https://doi.org/10.1038/d41586-024-04058-x
https://ora.ox.ac.uk/objects/uuid:e754b590-6ab0-4fc1-9c29-325c133cf21a

المؤلفون: Servais, L, Strijbos, P, Poleur, M, Mirea, A, Butoianu, N, Sansone, VA, Vuillerot, C, Schara-Schmidt, U, Scoto, M, Seferian, AM, Previtali, SC, Tulinius, M, Nascimento, A, Furlong, P, Singh, T, Dreghici, RD, Goemans, N, Mercuri, E, Straub, V, Ormazabal, MG, Braid, J, Muntoni, F, Tricot, A, Annoussamy, M

الاتاحة: https://doi.org/10.1038/s41598-024-80177-9
https://ora.ox.ac.uk/objects/uuid:267789ee-1a19-4744-b243-c7f9a0180550

المؤلفون: Borland H, Moore U, Dressman HG, Human A, Mayhew AG, Hilsden H, Rufibach LE, Duong T, Maron E, DeWolf B, Rose K, Siener C, Thiele S, Praxedes NS-A, Canal A, Holsten S, Sakamoto C, Pedrosa-Hernandez I, Bello L, Alfano LN, Lowes LP, The Jain COS Consortium, James MK, Straub V

المصدر: Neuromuscular Disorders, October 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/300616; https://eprints.ncl.ac.uk/fulltext.aspx?url=300616/FDD6F856-B8F8-4BD3-ACDB-315FF51661C6.pdf&pub_id=300616

الاتاحة: https://eprints.ncl.ac.uk/300616

المؤلفون: Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB

المصدر: Muscle and Nerve, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/300246; https://eprints.ncl.ac.uk/fulltext.aspx?url=300246/D1AEF36E-0CD6-4322-8326-8731A1EC2893.pdf&pub_id=300246

الاتاحة: https://eprints.ncl.ac.uk/300246

المؤلفون: Segarra-Casas A, Yepez VA, Demidov G, Laurie S, Esteve-Codina A, Gagneur J, Parkhurst Y, Muni-Lofra R, Harris E, Marini-Bettolo C, Straub V, Topf A

المصدر: International Journal of Molecular Sciences, July 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/300150; https://eprints.ncl.ac.uk/fulltext.aspx?url=300150/A4968386-5E3D-4316-9562-45FC50D048A5.pdf&pub_id=300150

الاتاحة: https://eprints.ncl.ac.uk/300150

المؤلفون: Govaarts R, Doorenweerd N, Najac CF, Broek EM, Tamsma ME, Hollingsworth KG, Niks EH, Ronen I, Straub V, Kan HE

المصدر: NMR in Biomedicine, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/299868; https://eprints.ncl.ac.uk/fulltext.aspx?url=299868/B959A9E3-5FB0-4819-97CB-C8C4D579BABE.pdf&pub_id=299868

الاتاحة: https://eprints.ncl.ac.uk/299868

المؤلفون: Muntoni F, Signorovitch J, Sajeev G, Done N, Yao Z, Goemans N, McDonald C, Mercuri E, Niks EH, Wong B, Vandenborne K, Straub V, de Groot IJM, Tian C, Manzur A, Dieye I, Lane H, Ward SJ, Servais L, Deconinck N, Tulinius M, Flanigan K, Henricson E, Dutra de Resende MB, Vita GL, Schara U, Kirschner J, Topaloglu H, Monges S, Cances C, Domingos J, Ricotti V, Selby V, Wolfe A, Abbott L, Milev E, Panagiotopoulou E, Iodice M, Ash M, Voit T, Decostre V, Gilabert S, Hogrel J-Y, Murphy A, Mayhew A, Van der Holst M, Krom YD, van Heur-Neuman MJ, Jansen M, Pelsma M, Bobbert M, Verschuuren JJGM, Robb S, Quinlivan R, Sarkozy A, Munot P, Baranello G, Scoto M, Main M, Patel H, Samsuddin S, Gupta VA, Bushby K, Bertolli C, Muni-Lofra R, James M, Moat D, Sodhi J, Roper H, Parasuraman D, McMurchie H, Rabb R, Pysden K, Pallant L, Peachey G, Madhu R, Shillington A, Jungbluth H, Sheehan J, Spahr R, Bateman E, Cammiss C, Groves L, Emery N, Baxter P, Goulborne N, Senior M, Scott E, Hartley L, Parsons B, Mason F, Jenkins L, Toms B, Frimpong-Ansah C, Jarvis H, Dalgleish J, Keddie A, Di Marco M, Dunne J, Miah A, Selley A, Geary M, Palmer J, Greenfield K, MacAuley S, Robbins H, Iqbal M, Ward C, Taylor J, O'Hara A, Tewnion J, Chandratre S, Ramdas S, White M, Ramjattan H, Yirrel J, Arora H, Willcocks RJ, Lott DJ, Senesac CR, Triplett WT, Byrne BJ, Walte GA, Sweeney HL, Harrington AT, Tennekoon GI, Zilke KL, Finanger EL, Russman BS, Daniels MJ, Xu D, Finkel RS, Bettica P, Billeter M, Van den Hauwe M, Rybalsky I, Shellenbarger KC, McCormick AE, McGuire MN, Bonarrigo K, Fowler AE, Kiefer M, Bange J, Hu S, Chik F, Chen J, Shen P

المصدر: PLoS ONE, July 2024

Relation: https://eprints.ncl.ac.uk/299847

الاتاحة: https://eprints.ncl.ac.uk/299847

المؤلفون: Schiava M, Lofra RM, Bourke JP, Diaz-Manera J, James MK, Elseed MA, Malinova M, Michel-Sodhi J, Moat D, Ghimenton E, Mccallum M, Diaz CFB, Mayhew A, Wong K, Richardson M, Tasca G, Eglon G, Eagle M, Turner C, Heslop E, Straub V, Bettolo CM, Guglieri M

المصدر: European Journal of Neurology, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297961; https://eprints.ncl.ac.uk/fulltext.aspx?url=297961/B36EB99F-12AD-47C9-9D52-244190A03BE0.pdf&pub_id=297961

الاتاحة: https://eprints.ncl.ac.uk/297961

المؤلفون: Topf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bonnemann CG, Cairns A, Chiew M-T, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg E-J, Lornage X, Loscher WN, Malfatti E, Manzur A, Marti P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V

المصدر: Nature Genetics, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297372; https://eprints.ncl.ac.uk/fulltext.aspx?url=297372/129CEFBB-F9A4-41E1-B56F-2B14BF22C0DE.pdf&pub_id=297372

الاتاحة: https://eprints.ncl.ac.uk/297372

المؤلفون: Töpf, A. (Ana), Cox, D. (Dan), Zaharieva, Irina T., Di Leo, V. (Valeria), Sarparanta, J. (Jaakko), Jonson, P. (Per Harald), Sealy, Ian M., Smolnikov, A. (Andrei), White, Richard J., Vihola, A. (Anna), Savarese, M. (Marco), Merteroglu, M. (Munise), Wali, N. (Neha), Laricchia, Kristen M., Venturini, C. (Cristina), Vroling, B. (Bas), Stenton, Sarah L., Cummings, Beryl B., Harris, E. (Elizabeth), Marini-Bettolo, C. (Chiara), Diaz-Manera, J. (Jordi), Henderson, M. (Matt), Barresi, R. (Rita), Duff, J. (Jennifer), England, Eleina M., Patrick, J. (Jane), Al-Husayni, S. (Sundos), Biancalana, V. (Valérie), Beggs, Alan H., Bodi, I. (Istvan), Bommireddipalli, S. (Shobhana), Bönnemann, Carsten G., Cairns, A. (Anita), Chiew, M. (Mei-Ting), Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, S. (Sandra), Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, C. (Carla), Jungbluth, H. (Heinz), Kamsteeg, E. (Erik-Jan), Lornage, X. (Xavière), Löscher, Wolfgang N., Malfatti, E. (Edoardo), Manzur, A. (Adnan), Martí, P. (Pilar), Mongini, Tiziana E., Muelas, N. (Nuria), Nishikawa, A. (Atsuko), O’Donnell-Luria, A. (Anne), Ogonuki, N. (Narumi), O’Grady, Gina L., O’Heir, E. (Emily), Paquay, S. (Stéphanie), Phadke, R. (Rahul), Pletcher, Beth A., Romero, Norma B., Schouten, M. (Meyke), Shah, S. (Snehal), Smuts, I. (Izelle), Sznajer, Y. (Yves), Tasca, G. (Giorgio), Taylor, Robert W., Tuite, A. (Allysa), Van den Bergh, P. (Peter), VanNoy, G. (Grace), Voermans, Nicol C., Wanschitz, Julia V., Wraige, E. (Elizabeth), Yoshimura, K. (Kimihiko), Oates, Emily C., Nakagawa, O. (Osamu), Nishino, I. (Ichizo), Laporte, J. (Jocelyn), Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, A. (Anna), Cordell, Heather J., Udd, B. (Bjarne), Busch-Nentwich, Elisabeth M., Muntoni, F. (Francesco), Straub, V. (Volker)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://www.nature.com/articles/s41588-023-01651-0

المؤلفون: Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Mignot C, Heron D, Drunat S, Verloes A, Moore R, Metcalfe A, Kohler S, Zonneveld-Huijssoon E, Kerstjens Frederikse WS, Abbott KM, van Gijn M, Ruvolo D, Roelofs-Prins D, Neerincx PB, van der Vries G, van der Velde JK, Swertz MA, Carneiro F, Ferreira P, Garrido L, Fernandes S, Gullo I, Ferreira M, Jose CS, Barbosa-Matos R, Peters S, Sommer AK, Spier I, Aretz S, Neri M, Bigoni S, Gualandi F, Selvatici R, Ferlini A, Piluso G, Zanobio M, Zeuli R, Torella A, Banfi S, Pinelli M, Morleo M, Nigro V, Smal N, Millevert C, Stamberger H, Weckhuysen S, De Ridder W, Van de Vondel L, de Jonghe P, De Winter J, de Vries G, Baets J, Timmerman V, Muller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Rohrer J, Moloney P, Bellampalli R, Sisodiya SM, Magrinelli F, Cali E, Morsy H, Efthymiou S, Vandrovcova J, Reilly M, Houlden H, Hanna M, Costa A, Robert G, Danis D, Robinson P, Spalding D, Thomas C, Freeberg M, Keane T, Parkinson H, Krebsova A, Dolezalova P, Liskova P, Ryba L, Havlovicova M, Frankova V, Kremlikova RP, Thomasova D, Turnovec M, Macek M, Stojkovic T, Atalaia A, Cohen E, Eymard B, Metay C, Ben Yaou R, Nelson I, Allamand V, Evangelista T, Bonne G, Coarelli G, Heinzmann A, Guillot-Noel L, Davoine C-S, Durr A, Stevanin G, Lebreton E, Lucano C, Chahdil M, Hongnat O, Lagorce D, Hanauer M, Rath A, Bros-Facer V, Gumus G, Raineri E, Gut M, Dabad M, Codina AE, Pico D, Hernandez C, Fernandez-Callejo M, Corvo A, Papakonstantinou A, Matalonga L, Piscia D, Gut IG, Couturier V, Bruel A-L, Duffourd Y, Denomme-Pichon A-S, Vitobello A, Thauvin C, Faivre L, Jackson A, Alexander E, Banka S, Clayton-Smith J, Engelhardt K, Hambleton S, Manera JD, Bettolo CM, Straub V

المصدر: npj Genomic Medicine, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302269; https://eprints.ncl.ac.uk/fulltext.aspx?url=302269/ECBA270E-5F19-4FD7-9F25-70B5F6B6D7ED.pdf&pub_id=302269

الاتاحة: https://eprints.ncl.ac.uk/302269

المؤلفون: Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, Marini-Bettolo C, Hundallah K, Alhashem AM, Al-Owain M, Maroofian R, Ravenscroft G, Straub V

المصدر: Journal of Medical Genetics, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/301273; https://eprints.ncl.ac.uk/fulltext.aspx?url=301273/B3037318-7289-45CC-A0FC-7133DB24D9CC.pdf&pub_id=301273

الاتاحة: https://eprints.ncl.ac.uk/301273

المؤلفون: Muntoni, F, Signorovitch, J, Sajeev, G, Done, N, Yao, Z, Goemans, N, McDonald, C, Mercuri, E, Niks, EH, Wong, B, Vandenborne, K, Straub, V, de Groot, IJM, Tian, C, Manzur, A, Dieye, I, Lane, H, Ward, SJ, Servais, L, investigators, PRO-DMD-01 study, Myopathies, Association Française contre les, Network, The UK NorthStar Clinical, investigators, ImagingDMD, cTAP

Relation: https://ora.ox.ac.uk/objects/uuid:81da102c-9bc0-4ccc-90fa-13ddcab91cbb; https://doi.org/10.1371/journal.pone.0304984

الاتاحة: https://doi.org/10.1371/journal.pone.0304984
https://ora.ox.ac.uk/objects/uuid:81da102c-9bc0-4ccc-90fa-13ddcab91cbb