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Seeding-competent TDP-43 persists in human patient and mouse muscle Lynch, Eileen M.; Pittman, Sara; Daw, Jil; Ikenaga, Chiseko; Chen, Sheng; Dhavale, Dhruva D.; Jackrel, Meredith E.; Ayala, Yuna M.; Kotzbauer, Paul; Ly, Cindy V.; Pestronk, Alan; Lloyd, Thomas E.; Weihl, Conrad C. Share Save
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs Rebelo, Adriana P.; Tomaselli, Pedro J.; Medina, Jessica; Wang, Ying; Dohrn, Maike F.; Nyvltova, Eva; Danzi, Matt C.; Garrett, Mark; Smith, Sean E.; Pestronk, Alan; Li, Chengcheng; Ruiz, Ariel; Jacobs, Elizabeth; Feely, Shawna M. E.; Franca Jr, Marcondes C.; Gomes, Marcus, V; Santos, Diogo F.; Kumar, Surinder; Lombard, David B.; Saporta, Mario; Hekimi, Siegfried; Barrientos, Antoni; Weihl, Conrad; Shy, Michael E.; Marques, Wilson; Zuchner, Stephan Share Save
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Water T2 could predict functional decline in patients with dysferlinopathy Moore, Ursula; Araujo, Ericky Caldas de Almeida; Reyngoudt, Harmen; Gordish-Dressman, Heather; Smith, Fiona E.; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Blamire, Andrew M.; Straub, Volker; Carlier, Pierre G.; Diaz-Manera, Jordi Share Save
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Thomas, Florian P.; Brannagan, Thomas H., III; Butterfield, Russell J.; Desai, Urvi; Habib, Ali A.; Herrmann, David N.; Eichinger, Katy J.; Johnson, Nicholas E.; Karam, Chafic; Pestronk, Alan; Quinn, Colin; Shy, Michael E.; Statland, Jeffrey M.; Subramony, Sub H.; Walk, David; Stevens-Favorite, Katherine; Miller, Barry; Leneus, Ashley; Fowler, Marcie; van de Rijn, Marc; Attie, Kenneth M. Share Save
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices Wencel, Marie; Shaibani, Aziz; Goyal, Namita A.; Dimachkie, Mazen M.; Trivedi, Jaya; Johnson, Nicholas E.; Gutmann, Laurie; Wicklund, Matthew P.; Bandyopadhay, Sankar; Genge, Angela L.; Freimer, Miriam L.; Goyal, Neelam; Pestronk, Alan; Florence, Julaine; Karam, Chafic; Ralph, Jeffrey W.; Rasheed, Zinah; Hays, Melissa; Hopkins, Steve; Mozaffar, Tahseen Share Save
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Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale Jacobs, Marni B.; James, Meredith K.; Lowes, Linda P.; Alfano, Lindsay N.; Eagle, Michelle; Muni Lofra, Robert; Moore, Ursula; Feng, Jia; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernandez, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurelie; Sanchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Guglieri, Michela; Hogrel, Jean-Yves; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Mayhew, Anna G.; Straub, Volker Share Save
Clinical utility of anticytosolic 5'-nucleotidase 1A antibody in idiopathic inflammatory myopathies Ikenaga, Chiseko; Findlay, Andrew R.; Goyal, Namita A.; Robinson, Sarah; Cauchi, Jonathan; Hussain, Yessar; Wang, Leo H.; Kershen, Joshua C.; Beson, Brent A.; Wallendorf, Michael; Bucelli, Robert C.; Mozaffar, Tahseen; Pestronk, Alan; Weihl, Conrad C. Share Save
Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS Miller, Timothy; Cudkowicz, Merit; Shaw, Pamela J.; Andersen, Peter M.; Atassi, Nazem; Bucelli, Robert C.; Genge, Angela; Glass, Jonathan; Ladha, Shafeeq; Ludolph, Albert L.; Maragakis, Nicholas J.; McDermott, Christopher J.; Pestronk, Alan; Ravits, John; Salachas, Francois; Trudell, Randall; Van Damme, Philip; Zinman, Lorne; Bennett, C. Frank; Lane, Roger; Sandrock, Alfred; Runz, Heiko; Graham, Danielle; Houshyar, Hani; McCampbell, Alexander; Nestorov, Ivan; Chang, Ih; McNeill, Manjit; Fanning, Laura; Fradette, Stephanie; Ferguson, Toby A. Share Save
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms Chung, Hyung-lok; Wangler, Michael F.; Marcogliese, Paul C.; Jo, Juyeon; Ravenscroft, Thomas A.; Zuo, Zhongyuan; Duraine, Lita; Sadeghzadeh, Sina; Li-Kroeger, David; Schmidt, Robert E.; Pestronk, Alan; Rosenfeld, Jill A.; Burrage, Lindsay; Herndon, Mitchell J.; Chen, Shan; Shillington, Amelle; Vawter-Lee, Marissa; Hopkin, Robert; Rodriguez-Smith, Jackeline; Henrickson, Michael; Lee, Brendan; Moser, Ann B.; Jones, Richard O.; Watkins, Paul; Yoo, Taekyeong; Mar, Soe; Choi, Murim; Bucelli, Robert C.; Yamamoto, Shinya; Lee, Hyun Kyoung; Prada, Carlos E.; Chae, Jong-Hee; Vogel, Tiphanie P.; Bellen, Hugo J. Share Save
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Assessment of disease progression in dysferlinopathy: A 1-year cohort study Moore, Ursula; Jacobs, Marni; James, Meredith K.; Mayhew, Anna G.; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E.; Lofra, Robert Muni; Blamire, Andrew M.; Carlier, Pierre G.; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M.; Montiel-Morillo, Elena; Pedrosa-Hernandez, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurelie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Praxedes, Nieves Sanchez-Aguilera; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M.; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Pruegel, Juliana; Maron, Elke; Hilsden, Heather; Lochmueller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker; Arrieta, Adrienne; Hwang, Esther; Lee, Elaine; Illa, Isabel; Gallardo, Eduard; Belmonte Jimeno, Izaskun; Llauger Rossello, Jaume; Harwick, Bruce; Sykes, Jackie; Yetter, Brent; Smith, Mark; Lapeyssonie, Bernard; Bendahan, David; Le Fur, Yann; Shahram, Attarian; Albane, Testot-Ferry; Coppenrath, Eva M.; Harris, Elizabeth; Guglieri, Michela; Evangelista, Teresinha; Murphy, Alex; Moat, Dionne; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Galley, Debra; Calore, Chiara; Stramare, Roberto; Rampado, Alessandro; Gidaro, Teresa; Turk, Suna; Servais, Laurent; Theis, Cyrille; Diabate, Oumar; Schimmoeller, Linda; Foster, Glenn; Carbonell, Pilar; Cabrera, Macarena; Morgado, Yolanda; Gala, Susana Rico; Perez, Jennifer; Sawyer, Anne Marie; Clarke, Nigel F.; Sandaradura, Sarah; Ghaoui, Roula; Cornett, Kayla; Miller, Claire; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Kobayashi, Yoko; Ashida, Ai; Nakayama, Takahiro; Segawa, Kazuhiko; Ohtaguro, Sachiko; Nakamura, Harumasa; Ohhata, Maki; Kimura, En; Endo, Makiko; Brody, Nora; Leach, Meganne E.; Toles, Allyn; Fricke, Stanley T.; Otero, Hansel J. Share Save
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phillipa J.; Mowat, David; Fitzsimons, Robin B.; Corbett, Alastair J.; Ryan, Monique M.; O'Grady, Gina L.; Sandaradura, Sarah A.; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L.; Nolan, Melinda A.; Kaur, Simranpreet; Punetha, Jaya; Toepf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A.; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R.; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E.; Foley, A. Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne M.; Gilbreath, Heather R.; Iannaccone, Susan T.; Castro, Diana; Cummings, Beryl B.; Webster, Richard I.; Lazaro, Leila; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho-Ming; Thomas, Neil H.; Foulds, Nicola C.; Illingworth, Marjorie A.; Ellard, Sian; McLean, Catriona A.; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; Cooper, Sandra T.; Kamsteeg, Erik-Jan; Hoffman, Eric P.; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; North, Kathryn N.; Clarke, Nigel F.; Lek, Monkol; Beggs, Alan H.; Boennemann, Carsten G.; MacArthur, Daniel G.; Granzier, Henk; Davis, Mark R.; Laing, Nigel G. Share Save
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K.; Mayhew, Anna; Smith, Fiona E.; Moore, Ursula R.; Blamire, Andrew M.; Carlier, Pierre G.; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Gala, Susana Rico; Turk, Suna; Coppenrath, Eva M.; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T.; Otero, Hansel; Foster, Sheryl L.; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmuller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker Share Save
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