Not logged in Primary Lateral Sclerosis Natural History Study: Primary Lateral Sclerosis Functional Rating Scale and Other Outcomes Assessment Lee, Ikjae; Jang, Grace; Cheung, Ying Kuen (Ken); Sherman, Alexander V.; Johnston, Wendy S.; Diaz, Frank; Fernandes, J. Americo M.; Habib, Ali A.; Maragakis, Nicholas J.; Paganoni, Sabrina; Burke, Katherine; Oskarsson, Bjorn; Shah, Jaimin; Zinman, Lorne; Floeter, Mary Kay; Ajroud-Driss, Senda; Gwathmey, Kelly; Heiman-Patterson, Terry; Jawdat, Omar; Kasarskis, Edward J.; Kisanuki, Yaz Y.; Wymer, James; Fournier, Christina; Hayat, Ghazala; Heitzman, Daragh; Lomen-Hoerth, Catherine; Pulley, Michael T.; Scelsa, Stephen N.; Walk, David; Goutman, Stephen A.; Shoesmith, Christen; Simmons, Zachary; Sorenson, Eric; Elman, Lauren; Harms, Matthew B.; Hoover, Benjamin N.; Yun, Rebecca Y.; Santella, Regina M.; Mitsumoto, Hiroshi; PLS NHS Study Grp Share Save
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy Schiava, Marianela; Ikenaga, Chiseko; Topf, Ana; Caballero-Avila, Marta; Chou, Tsui-Fen; Li, Shan; Wang, Feng; Daw, Jil; Stojkovic, Tanya; Villar-Quiles, Rocio; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Katsuno, Masahisa; Noda, Seiya; Ito, Chihiro; Otsuka, Mieko; Nahir, Sruthi; Manousakis, Georgios; Walk, David; Quinn, Colin; Alfano, Lindsay; Sahenk, Zarife; Tasca, Giorgio; Monforte, Mauro; Sabatelli, Mario; Bisogni, Giulia; Oldfors, Anders; Rydeliu, Anna; Pal, Endre; Paradas, Carmen; Velez, Beatriz; De Bleecker, Jan L.; Farugia, Maria Elena; Longman, Cheryl; Harms, Matthew B.; Ralston, Stuart; Zanoteli, Edmar; da Silva, Andre Macedo Serafim; Sotoca, Javier; Juntas-Morales, Raul; Bevilacqua, Jorge; Balart, Mireya; Talbot, Stuart; Straub, Volker; Guglieri, Michela; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Weihl, Conrad Chris Share Save
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study Schiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocio Nur; Caballero-Avila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar; Sgobbi Souza, Paulo Victor; Tasca, Giorgio; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jimenez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong; Bevilacqua, Jorge Alfredo; Olive, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Dominguez-Gonzalez, Cristina; Papadimas, George K.; Warman, Jodi; Claeys, Kristl G.; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N.; Nair, Sruthi S.; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan; Garcia-Garcia, Jorge; Pal, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad; Diaz-Manera, Jordi Share Save
Retromer dysfunction in amyotrophic lateral sclerosis Perez-Torres, Eduardo J.; Utkina-Sosunova, Irina; Mishra, Vartika; Barbuti, Peter; De Planell-Saguer, Mariangels; Dermentzaki, Georgia; Geiger, Heather; Basile, Anna O.; Robine, Nicolas; Fagegaltier, Delphine; Politi, Kristin A.; Rinchetti, Paola; Jackson-Lewis, Vernice; Harms, Matthew; Phatnani, Hemali; Lotti, Francesco; Przedborski, Serge Share Save
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Rare and de novo coding variants in chromodomain genes in Chiari I malformation Sadler, Brooke; Wilborn, Jackson; Antunes, Lilian; Kuensting, Timothy; Hale, Andrew T.; Gannon, Stephen R.; McCall, Kevin; Cruchaga, Carlos; Harms, Matthew; Voisin, Norine; Reymond, Alexandre; Cappuccio, Gerarda; Burnetti-Pierri, Nicola; Tartaglia, Marco; Niceta, Marcello; Leoni, Chiara; Zampino, Giuseppe; Ashley-Koch, Allison; Urbizu, Aintzane; Garrett, Melanie E.; Soldano, Karen; Macaya, Alfons; Conrad, Donald; Strahle, Jennifer; Dobbs, Matthew B.; Turner, Tychele N.; Shannon, Chevis N.; Brockmeyer, Douglas; Limbrick, David D.; Gurnett, Christina A.; Haller, Gabe Share Save
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease Ronkko, Julius; Molchanova, Svetlana; Revah-Politi, Anya; Pereira, Elaine M.; Auranen, Mari; Toppila, Jussi; Kvist, Jouni; Ludwig, Anastasia; Neumann, Julika; Bultynck, Geert; Humblet-Baron, Stephanie; Liston, Adrian; Paetau, Anders; Rivera, Claudio; Harms, Matthew B.; Tyynismaa, Henna; Ylikallio, Emil Share Save
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology Reichenstein, Irit; Eitan, Chen; Diaz-Garcia, Sandra; Haim, Guy; Magen, Iddo; Siany, Aviad; Hoye, Mariah L.; Rivkin, Natali; Olender, Tsviya; Toth, Beata; Ravid, Revital; Mandelbaum, Amitai D.; Yanowski, Eran; Liang, Jing; Rymer, Jeffrey K.; Levy, Rivka; Beck, Gilad; Ainbinder, Elena; Farhan, Sali M. K.; Lennox, Kimberly A.; Bode, Nicole M.; Behlke, Mark A.; Moller, Thomas; Saxena, Smita; Moreno, Cristiane A. M.; Costaguta, Giancarlo; van Eijk, Kristel R.; Phatnani, Hemali; Al-Chalabi, Ammar; Basak, A. Nazli; van den Berg, Leonard H.; Hardiman, Orla; Landers, John E.; Mora, Jesus S.; Morrison, Karen E.; Shaw, Pamela J.; Veldink, Jan H.; Pfaff, Samuel L.; Yizhar, Ofer; Gross, Christina; Brown, Robert H., Jr.; Ravits, John M.; Harms, Matthew B.; Miller, Timothy M.; Hornstein, Eran Share Save
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
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Tanner, Alice; Ankala, Arunkanth; Schneider, Thomas; da Silva, Cristina; Beadling, Randall; Alexander, John J.; Askree, Syed Hussain; Whitt, Zachary; Bean, Lora; Collins, Christin; Khadilkar, Satish; Gaitonde, Pradnya; Dastur, Rashna; Wicklund, Matthew; Mozaffar, Tahseen; Harms, Matthew; Rufibach, Laura; Mittal, Plavi; Hegde, Madhuri Share Save
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis Haller, Gabe; McCall, Kevin; Jenkitkasemwong, Supak; Sadler, Brooke; Antunes, Lilian; Nikolov, Momchil; Whittle, Julia; Upshaw, Zachary; Shin, Jimann; Baschal, Erin; Cruchaga, Carlos; Harms, Matthew; Raggio, Cathleen; Morcuende, Jose A.; Giampietro, Philip; Miller, Nancy H.; Wise, Carol; Gray, Ryan S.; Solnica-Krezel, Lila; Knutson, Mitchell; Dobbs, Matthew B.; Gurnett, Christina A. 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
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study Moore, Ursula R.; Jacobs, Marni; Fernandez-Torron, Roberto; Jang, Jiji; James, Meredith K.; Mayhew, Anna; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Cnaan, Avital; Carlier, Pierre G.; Blamire, Andrew; 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 Share Save
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population Black, Holly A.; Leighton, Danielle J.; Cleary, Elaine M.; Rose, Elaine; Stephenson, Laura; Colville, Shuna; Ross, David; Warner, Jon; Porteous, Mary; Gorrie, George H.; Swingler, Robert; Goldstein, David; Harms, Matthew B.; Connick, Peter; Pal, Suvankar; Aitman, Timothy J.; Chandran, Siddharthan Share Save
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis Guettsches, Anne-Katrin; Brady, Stefen; Krause, Kathryn; Maerkens, Alexandra; Uszkoreit, Julian; Eisenacher, Martin; Schreiner, Anja; Galozzi, Sara; Mertens-Rill, Janine; Tegenthoff, Martin; Holton, Janice L.; Harms, Matthew B.; Lloyd, Thomas E.; Vorgerd, Matthias; Weihl, Conrad C.; Marcus, Katrin; Kley, Rudolf A. Share Save
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A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis Haller, Gabe; Alvarado, David; Mccall, Kevin; Yang, Ping; Cruchaga, Carlos; Harms, Matthew; Goate, Alison; Willing, Marcia; Morcuende, Jose A.; Baschal, Erin; Miller, Nancy H.; Wise, Carol; Dobbs, Matthew B.; Gurnett, Christina A. Share Save
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