The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

by Albulym, Obaid M., Zhu, Danqing, Reddel, Stephen, Kennerson, Marina, Nicholson, Garth
Published 2013

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

by Stoll, Marion, Teoh, Hooiling, Lee, James, Reddel, Stephen, Zhu, Ying, Buckley, Michael, Sampaio, Hugo, Roscioli, Tony, Farrar, Michelle, Nicholson, Garth
Published 2016

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

by Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L
Published 2015

Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells

by Acosta, Jamie Rae, Goldsbury, Claire, Winnick, Claire, Badrock, Andrew P., Fraser, Stuart T., Laird, Angela S., Hall, Thomas E., Don, Emily K., Fifita, Jennifer A., Blair, Ian P., Nicholson, Garth A., Cole, Nicholas J.
Published 2014

Genetic basis of hindlimb loss in a naturally occurring vertebrate model

by Don, Emily K., de Jong-Curtain, Tanya A., Doggett, Karen, Hall, Thomas E., Heng, Benjamin, Badrock, Andrew P., Winnick, Claire, Nicholson, Garth A., Guillemin, Gilles J., Currie, Peter D., Hesselson, Daniel, Heath, Joan K., Cole, Nicholas J.
Published 2016

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

by Brewer, Megan H., Chaudhry, Rabia, Qi, Jessica, Kidambi, Aditi, Drew, Alexander P., Menezes, Manoj P., Ryan, Monique M., Farrar, Michelle A., Mowat, David, Subramanian, Gopinath M., Young, Helen K., Zuchner, Stephan, Reddel, Stephen W., Nicholson, Garth A., Kennerson, Marina L.
Published 2016

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

by Klein, Christopher J., Botuyan, Maria-Victoria, Wu, Yanhong, Ward, Christopher J., Nicholson, Garth A., Hammans, Simon, Hojo, Kaori, Yamanishi, Hiromitch, Karpf, Adam R., Wallace, Douglas C., Simon, Mariella, Lander, Cecilie, Boardman, Lisa A., Cunningham, Julie M., Smith, Glenn E., Litchy, William J., Boes, Benjamin, Atkinson, Elizabeth J., Middha, Sumit, Dyck, P. James, Parisi, Joseph E., Mer, Georges, Smith, David I., Dyck, Peter J.
Published 2011

Exome sequencing to identify de novo mutations in sporadic ALS trios

by Chesi, Alessandra, Staahl, Brett T., Jovicic, Ana, Couthouis, Julien, Fasolino, Maria, Raphael, Alya R., Yamazaki, Tomohiro, Elias, Laura, Polak, Meraida, Kelly, Crystal, Williams, Kelly L., Fifita, Jennifer A., Maragakis, Nicholas J., Nicholson, Garth A., King, Oliver D., Reed, Robin, Crabtree, Gerald R., Blair, Ian P., Glass, Jonathan D., Gitler, Aaron D.
Published 2013

Variants associated with Gaucher disease in multiple system atrophy

by Mitsui, Jun, Matsukawa, Takashi, Sasaki, Hidenao, Yabe, Ichiro, Matsushima, Masaaki, Dürr, Alexandra, Brice, Alexis, Takashima, Hiroshi, Kikuchi, Akio, Aoki, Masashi, Ishiura, Hiroyuki, Yasuda, Tsutomu, Date, Hidetoshi, Ahsan, Budrul, Iwata, Atsushi, Goto, Jun, Ichikawa, Yaeko, Nakahara, Yasuo, Momose, Yoshio, Takahashi, Yuji, Hara, Kenju, Kakita, Akiyoshi, Yamada, Mitsunori, Takahashi, Hitoshi, Onodera, Osamu, Nishizawa, Masatoyo, Watanabe, Hirohisa, Ito, Mizuki, Sobue, Gen, Ishikawa, Kinya, Mizusawa, Hidehiro, Kanai, Kazuaki, Hattori, Takamichi, Kuwabara, Satoshi, Arai, Kimihito, Koyano, Shigeru, Kuroiwa, Yoshiyuki, Hasegawa, Kazuko, Yuasa, Tatsuhiko, Yasui, Kenichi, Nakashima, Kenji, Ito, Hijiri, Izumi, Yuishin, Kaji, Ryuji, Kato, Takeo, Kusunoki, Susumu, Osaki, Yasushi, Horiuchi, Masahiro, Kondo, Tomoyoshi, Murayama, Shigeo, Hattori, Nobutaka, Yamamoto, Mitsutoshi, Murata, Miho, Satake, Wataru, Toda, Tatsushi, Filla, Alessandro, Klockgether, Thomas, Wüllner, Ullrich, Nicholson, Garth, Gilman, Sid, Tanner, Caroline M, Kukull, Walter A, Stern, Mathew B, Lee, Virginia M-Y, Trojanowski, John Q, Masliah, Eliezer, Low, Phillip A, Sandroni, Paola, Ozelius, Laurie J, Foroud, Tatiana, Tsuji, Shoji
Published 2015

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

by Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Published 2016