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1by Mohammadi, Pejman, Castel, Stephane E, Cummings, Beryl B, Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A Reghan, Wheeler, Heather E, Im, Hae Kyung, Bonnemann, Carsten G, MacArthur, Daniel G, Lappalainen, TuuliGet full text
Published in Science (American Association for the Advancement of Science)
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3by Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.Get full text
Published in American journal of human genetics
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4by Bharucha-Goebel, Diana X, Norato, Gina, Saade, Dimah, Paredes, Eduardo, Biancavilla, Victoria, Donkervoort, Sandra, Kaur, Rupleen, Lehky, Tanya, Fink, Margaret, Armao, Diane, Gray, Steven J, Waite, Melissa, Debs, Sarah, Averion, Gilberto, Hu, Ying, Zein, Wadih M, Foley, A Reghan, Jain, Minal, Bönnemann, Carsten GGet full text
Published in Brain (London, England : 1878)
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5by Case, Laura K, Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L, Szczot, Marcin, Pitcher, Mark H, Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A Reghan, Bönnemann, Carsten G, Olausson, Håkan, Bushnell, M Catherine, Chesler, Alexander TGet full text
Published in Nature communications
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6by JOHNSON, Janel O, RAPHAEL GIBBS, J, REILLY, Mary M, MUNTONI, Francesco, ABRAMZON, Yevgeniya, HOULDEN, Henry, SINGLETON, Andrew B, MEGARBANE, Andre, ANDONI URTIZBEREA, J, HERNANDEZ, Dena G, REGHAN FOLEY, A, AREPALLI, Sampath, PANDRAUD, Amelie, SIMON-SANCHEZ, Javier, CLAYTON, PeterGet full text
Published in Brain (London, England : 1878)
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8by Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, FrancescoGet full text
Published in American journal of human genetics
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9by Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, FrancescoGet full text
Published in American journal of human genetics
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11by Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.Get full text
Published in Cell reports (Cambridge)
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12by FOLEY, A. Reghan, QUIJANO-ROY, Susana, NORTH, Kathryn, RYAN, Monique M, RICHARD, Pascale, ALLAMAND, Valérie, HICKS, Debbie, LAMANDE, Shireen, YING HU, GUALANDI, Francesca, SUNGYOUNG AUH, MUNTONI, Francesco, COLLINS, James, BÖNNEMANN, Carsten G, STRAUB, Volker, MCCALLUM, Michelle, DECONINCK, Nicolas, MERCURI, Eugenio, PANE, Marika, D'AMICO, Adele, BERTINI, EnricoGet full text
Published in Brain (London, England : 1878)
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13by Nagi, Saad S, Marshall, Andrew G, Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderström, Mikael, Shaikh, Sumaiya, O'Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bönnemann, Carsten G, Chesler, Alexander T, Bushnell, M Catherine, McGlone, Francis, Olausson, HåkanGet full text
Published in Science advances
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14BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsyby Donkervoort, Sandra, Krause, Niklas, Dergai, Mykola, Yun, Pomi, Koliwer, Judith, Gorokhova, Svetlana, Geist Hauserman, Janelle, Cummings, Beryl B, Hu, Ying, Smith, Rosemarie, Uapinyoying, Prech, Ganesh, Vijay S, Ghosh, Partha S, Monaghan, Kristin G, Edassery, Seby L, Ferle, Pia E, Silverstein, Sarah, Chao, Katherine R, Snyder, Molly, Ellingwood, Sara, Bharucha‐Goebel, Diana, Iannaccone, Susan T, Dal Peraro, Matteo, Foley, A Reghan, Savas, Jeffrey N, Bolduc, Véronique, Fasshauer, Dirk, Bönnemann, Carsten G, Schwake, MichaelGet full text
Published in EMBO molecular medicine
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15by Bolduc, Véronique, Foley, A Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S, Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan, Aguti, Sara, Cummings, Beryl B, Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L, Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric, Wilton, Steve D, Lamandé, Shireen R, MacArthur, Daniel G, Wagener, Raimund, Muntoni, Francesco, Bönnemann, Carsten GGet full text
Published in JCI insight
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16by Chan, Sophelia H.S, Foley, A. Reghan, Phadke, Rahul, Mathew, Ann Agnes, Pitt, Matthew, Sewry, Caroline, Muntoni, FrancescoGet full text
Published in Neuromuscular disorders : NMD
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18by Sirisena, Nirmala Dushyanthi, Samaranayake, U M Jayami Eshana, Neto, Osorio Lopes Abath, Foley, A Reghan, Pathirana, B A P Sajeewani, Neththikumara, Nilaksha, Paththinige, C Sampath, Rathnayake, Pyara, Donkervoort, Sandra, Bönnemann, Carsten G, Dissanayake, Vajira H WGet full text
Published in BMC neurology
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20by Geist Hauserman, Janelle, Laverty, Chamindra G., Donkervoort, Sandra, Hu, Ying, Silverstein, Sarah, Neuhaus, Sarah B., Saade, Dimah, Vaughn, Gabrielle, Malicki, Denise, Kaur, Rupleen, Li, Yuesheng, Luo, Yan, Liu, Poching, Burr, Patrick, Foley, A. Reghan, Mohassel, Payam, Bönnemann, Carsten G.Get full text
Published in HGG advances
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