학술논문
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1~10
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
Academic Journal
Vishnu, Venugopalan Y.; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Ahmad, Tanveer; van der Vliet, Patrick J.; Kretkiewicz, Marcelina M.; Macken, William L.; Efthymiou, Stephanie; Dominik, Natalia; Morrow, Jasper M.; Bhatia, Rohit; Wilson, Lindsay A.; Houlden, Henry; Hanna, Michael G.; Bugiardini, Enrico; van der Maarel, Silvère M.; Srivastava, M. V. Padma
European Journal of Human Genetics. 32(9):1053-1064
Academic Journal
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair; Pennavaria, Ajia; Krogstad, Liv; Bekkelund, Åse; Caiella, Alessia; Glomnes, Nina; Brønstad, Kirsten; Tury, Sandrine; Moreno De Luca, Andrés; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; İpek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra; Lochmuller, Hanns; Daas, Sahar; Fakhro, Khalid; Gómez-Pascual, Alicia; Botía, Juan; Wood, Nicholas; Horvath, Rita; Ernst, Andreas; Rothman, James; McEntagart, Meriel; Crow, Yanick; Alkuraya, Fowzan; Nicolas, Gaël; Arnesen, Thomas; Houlden, Henry
Nature Communications. 15(1)
Academic Journal
Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, François; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sánchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schüle, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf
Lab Animal. 53(7):161-165
Academic Journal
Harms, Frederike L.; Rexach, Jessica Erin; Efthymiou, Stephanie; Aynekin, Busra; Per, Hüseyin; Güleç, Ayten; Nampoothiri, Sheela; Sampaio, Hugo; Sachdev, Rani; Stoeva, Radka; Myers, Kasiani; Pena, Loren D. M.; Kalfa, Theodosia A.; Chard, Marisa; Klassen, Megan; Pries, Megan; Kutsche, Kerstin
European Journal of Human Genetics. 32(5):558-566
Academic Journal
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Elmaksoud, Marwa Abd; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S.-Y.; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuß, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-François; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S.
Nature Communications. 15(1)
Academic Journal
Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian GEL; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, PY Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Ghayoor Karimiani, Ehsan; Mojarrad, Majid; Arab, Fatemeh; Duymuş, Fahrettin; Scantlebury, Morris H; Yeşil, Gözde; Rosenfeld, Jill Anne; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza
Academic Journal
Luo, Huihui; Gustavsson, Emil K.; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; Yau, Wai Yan; Efthymiou, Stephanie; Turner, Chris; DeTure, Michael; Dickson, Dennis W.; Josephs, Keith A.; Revesz, Tamas; Lashley, Tammaryn; Halliday, Glenda; Rowe, Dominic B.; McCann, Emily; Blair, Ian; Lees, Andrew J.; Tienari, Pentti J.; Suomalainen, Anu; Molina-Porcel, Laura; Kovacs, Gabor G.; Gelpi, Ellen; Hardy, John; Haltia, Matti J.; Tucci, Arianna; Jaunmuktane, Zane; Ryten, Mina; Houlden, Henry; Chen, Zhongbo
Acta Neuropathologica Communications. 12(1)
Academic Journal
Christina Zarouchlioti; Stephanie Efthymiou; Stefano Facchini; Natalia Dominik; Nihar Bhattacharyya; Siyin Liu; Marcos Abreu Costa; Anita Szabo; Amanda N. Sadan; Albert S. Jun; Enrico Bugiardini; Henry Houlden; Andrea Cortese; Pavlina Skalicka; Lubica Dudakova; Kirithika Muthusamy; Michael E. Cheetham; Alison J. Hardcastle; Petra Liskova; Stephen J. Tuft; Alice E. Davidson
EBioMedicine, Vol 108, Iss , Pp 105328- (2024)
Academic Journal
Salpietro, Vincenzo; Deforie, Valentina Galassi; Efthymiou, Stephanie; O'Connor, Emer; Marcé‐Grau, Anna; Maroofian, Reza; Striano, Pasquale; Zara, Federico; Morrow, Michelle M; Group, SYNAPS Study; Reich, Adi; Blevins, Amy; Sala‐Coromina, Júlia; Accogli, Andrea; Fortuna, Sara; Alesandrini, Marie; Au, PY Billie; Singhal, Nilika Shah; Cogne, Benjamin; Isidor, Bertrand; Hanna, Michael G; Macaya, Alfons; Kullmann, Dimitri M; Houlden, Henry; Männikkö, Roope
Epilepsia. 64(2)
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