Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

Por Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Publicado no Mol Genet Genomic Med (2018)

Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis

Por Geevasinga, Nimeshan, Menon, Parvathi, Nicholson, Garth A., Ng, Karl, Howells, James, Kril, Jillian J., Yiannikas, Con, Kiernan, Matthew C., Vucic, Steve
Publicado no JAMA Neurol (2015)

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

Por Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L
Publicado no Mol Genet Genomic Med (2015)

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss

Por Klein, Christopher J., Bird, Tom, Ertekin-Taner, Nilufer, Lincoln, Sarah, Hjorth, Robert, Wu, Yanhong, Kwok, John, Mer, Georges, Dyck, Peter J., Nicholson, Garth A.
Publicado em 2013

Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

Por Luty, Agnes A, Kwok, John BJ, Thompson, Elizabeth M, Blumbergs, Peter, Brooks, William S, Loy, Clement T, Dobson-Stone, Carol, Panegyres, Peter K, Hecker, Jane, Nicholson, Garth A, Halliday, Glenda M, Schofield, Peter R
Publicado em 2008

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

Por 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.
Publicado em 2014

A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Por Kennerson, Marina L., Yiu, Eppie M., Chuang, David T., Kidambi, Aditi, Tso, Shih-Chia, Ly, Carolyn, Chaudhry, Rabia, Drew, Alexander P., Rance, Gary, Delatycki, Martin B., Züchner, Stephan, Ryan, Monique M., Nicholson, Garth A.
Publicado em 2013

MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With Pyramidal Signs

Por Albulym, Obaid M., Kennerson, Marina L., Harms, Matthew B., Drew, Alexander P., Siddell, Anna H., Auer-Grumbach, Michaela, Pestronk, Alan, Connolly, Anne, Baloh, Robert H., Zuchner, Stephan, Reddel, Stephen W., Nicholson, Garth A.
Publicado no Ann Neurol (2016)

Genetic basis of hindlimb loss in a naturally occurring vertebrate model

Por 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.
Publicado no Biol Open (2016)

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

Por 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.
Publicado no PLoS Genet (2016)

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

Por Perez-Siles, Gonzalo, Grant, Adrienne, Ellis, Melina, Ly, Carolyn, Kidambi, Aditi, Khalil, Mamdouh, Llanos, Roxana M., La Fontaine, Sharon, Strickland, Alleene V., Züchner, Stephan, Bermeo, Sandra, Neist, Elysia, Brennan-Speranza, Tara C., Takata, Reinaldo I., Speck-Martins, Carlos E., Mercer, Julian F.B., Nicholson, Garth A., Kennerson, Marina L.
Publicado no Metallomics (2016)

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Por Chen, Ying-Zhang, Bennett, Craig L., Huynh, Huy M., Blair, Ian P., Puls, Imke, Irobi, Joy, Dierick, Ines, Abel, Annette, Kennerson, Marina L., Rabin, Bruce A., Nicholson, Garth A., Auer-Grumbach, Michaela, Wagner, Klaus, De Jonghe, Peter, Griffin, John W., Fischbeck, Kenneth H., Timmerman, Vincent, Cornblath, David R., Chance, Phillip F.
Publicado em 2004

Exome sequencing to identify de novo mutations in sporadic ALS trios

Por 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.
Publicado em 2013

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Por Rivière, Jean-Baptiste, Ramalingam, Siriram, Lavastre, Valérie, Shekarabi, Masoud, Holbert, Sébastien, Lafontaine, Julie, Srour, Myriam, Merner, Nancy, Rochefort, Daniel, Hince, Pascale, Gaudet, Rébecca, Mes-Masson, Anne-Marie, Baets, Jonathan, Houlden, Henry, Brais, Bernard, Nicholson, Garth A., Van Esch, Hilde, Nafissi, Shahriar, De Jonghe, Peter, Reilly, Mary M., Timmerman, Vincent, Dion, Patrick A., Rouleau, Guy A.
Publicado em 2011

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Por Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Publicado no Neuron (2017)

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Por Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Publicado no Neuron (2017)

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

Por Ishiura, Hiroyuki, Sako, Wataru, Yoshida, Mari, Kawarai, Toshitaka, Tanabe, Osamu, Goto, Jun, Takahashi, Yuji, Date, Hidetoshi, Mitsui, Jun, Ahsan, Budrul, Ichikawa, Yaeko, Iwata, Atsushi, Yoshino, Hiide, Izumi, Yuishin, Fujita, Koji, Maeda, Kouji, Goto, Satoshi, Koizumi, Hidetaka, Morigaki, Ryoma, Ikemura, Masako, Yamauchi, Naoko, Murayama, Shigeo, Nicholson, Garth A., Ito, Hidefumi, Sobue, Gen, Nakagawa, Masanori, Kaji, Ryuji, Tsuji, Shoji
Publicado em 2012

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Por Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F.B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M.E., Shy, Michael E., Garbern, James Y.
Publicado em 2010

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

Por 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.
Publicado em 2011

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Por Couthouis, Julien, Hart, Michael P., Erion, Renske, King, Oliver D., Diaz, Zamia, Nakaya, Tadashi, Ibrahim, Fadia, Kim, Hyung-Jun, Mojsilovic-Petrovic, Jelena, Panossian, Saarene, Kim, Cecilia E., Frackelton, Edward C., Solski, Jennifer A., Williams, Kelly L., Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Greene, Robert, Hakonarson, Hakon, Kalb, Robert G., Lee, Virginia M.Y., Trojanowski, John Q., Nicholson, Garth A., Blair, Ian P., Bonini, Nancy M., Van Deerlin, Vivianna M., Mourelatos, Zissimos, Shorter, James, Gitler, Aaron D.
Publicado em 2012