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Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis
Vucic, Steve, Nicholson, Garth A., Kiernan, Matthew C.
Published in Brain (London, England : 1878) (01.06.2008)
Published in Brain (London, England : 1878) (01.06.2008)
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Journal Article
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.
Published in Nature communications (12.11.2022)
Published in Nature communications (12.11.2022)
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Journal Article
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
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.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Journal Article
Calpain Inhibition Is Protective in Machado–Joseph Disease Zebrafish Due to Induction of Autophagy
Watchon, Maxinne, Yuan, Kristy C., Mackovski, Nick, Svahn, Adam J., Cole, Nicholas J., Goldsbury, Claire, Rinkwitz, Silke, Becker, Thomas S., Nicholson, Garth A., Laird, Angela S.
Published in The Journal of neuroscience (09.08.2017)
Published in The Journal of neuroscience (09.08.2017)
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Journal Article
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
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.
Published in Human molecular genetics (01.07.2012)
Published in Human molecular genetics (01.07.2012)
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Journal Article
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Tsai, Pei-Chien, Soong, Bing-Wen, Mademan, Inès, Huang, Yen-Hua, Liu, Chia-Rung, Hsiao, Cheng-Tsung, Wu, Hung-Ta, Liu, Tze-Tze, Liu, Yo-Tsen, Tseng, Yen-Ting, Lin, Kon-Ping, Yang, Ueng-Cheng, Chung, Ki Wha, Choi, Byung-Ok, Nicholson, Garth A., Kennerson, Marina L., Chan, Chih-Chiang, De Jonghe, Peter, Cheng, Tzu-Hao, Liao, Yi-Chu, Züchner, Stephan, Baets, Jonathan, Lee, Yi-Chung
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Journal Article
Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations
Konopka, Anna, Whelan, Donna R., Jamali, Md Shafi, Perri, Emma, Shahheydari, Hamideh, Toth, Reka P., Parakh, Sonam, Robinson, Tina, Cheong, Alison, Mehta, Prachi, Vidal, Marta, Ragagnin, Audrey M. G., Khizhnyak, Ivan, Jagaraj, Cyril J., Galper, Jasmin, Grima, Natalie, Deva, Anand, Shadfar, Sina, Nicholson, Garth A., Yang, Shu, Cutts, Suzanne M., Horejsi, Zuzana, Bell, Toby D. M., Walker, Adam K., Blair, Ian P., Atkin, Julie D.
Published in Molecular neurodegeneration (09.09.2020)
Published in Molecular neurodegeneration (09.09.2020)
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Journal Article
The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
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
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Journal Article
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
Takahashi, Yuji, Fukuda, Yoko, Yoshimura, Jun, Toyoda, Atsushi, Kurppa, Kari, Moritoyo, Hiroyoko, Belzil, Veronique V., Dion, Patrick A., Higasa, Koichiro, Doi, Koichiro, Ishiura, Hiroyuki, Mitsui, Jun, Date, Hidetoshi, Ahsan, Budrul, Matsukawa, Takashi, Ichikawa, Yaeko, Moritoyo, Takashi, Ikoma, Mayumi, Hashimoto, Tsukasa, Kimura, Fumiharu, Murayama, Shigeo, Onodera, Osamu, Nishizawa, Masatoyo, Yoshida, Mari, Atsuta, Naoki, Sobue, Gen, Fifita, Jennifer A., Williams, Kelly L., Blair, Ian P., Nicholson, Garth A., Gonzalez-Perez, Paloma, Brown, Robert H., Nomoto, Masahiro, Elenius, Klaus, Rouleau, Guy A., Fujiyama, Asao, Morishita, Shinichi, Goto, Jun, Tsuji, Shoji
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Journal Article
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development
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
Published in Neuron (Cambridge, Mass.) (19.04.2017)
Published in Neuron (Cambridge, Mass.) (19.04.2017)
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Journal Article
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.
Published in Nature communications (02.07.2024)
Published in Nature communications (02.07.2024)
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Journal Article
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype
Hogan, Alison L., Don, Emily K., Rayner, Stephanie L., Lee, Albert, Laird, Angela S., Watchon, Maxinne, Winnick, Claire, Tarr, Ingrid S., Morsch, Marco, Fifita, Jennifer A., Gwee, Serene S. L., Formella, Isabel, Hortle, Elinor, Yuan, Kristy C., Molloy, Mark P., Williams, Kelly L., Nicholson, Garth A., Chung, Roger S., Blair, Ian P., Cole, Nicholas J.
Published in Human molecular genetics (15.07.2017)
Published in Human molecular genetics (15.07.2017)
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Journal Article
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.
Published in Scientific reports (18.12.2019)
Published in Scientific reports (18.12.2019)
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Journal Article
Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
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.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Journal Article
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
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.
Published in American journal of human genetics (01.06.2004)
Published in American journal of human genetics (01.06.2004)
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Journal Article
Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo
Watchon, Maxinne, Luu, Luan, Robinson, Katherine J., Yuan, Kristy C., De Luca, Alana, Suddull, Hannah J., Tym, Madelaine C., Guillemin, Gilles J., Cole, Nicholas J., Nicholson, Garth A., Chung, Roger S., Lee, Albert, Laird, Angela S.
Published in Molecular brain (20.08.2021)
Published in Molecular brain (20.08.2021)
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Journal Article
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice
McCann, Emily P, Fifita, Jennifer A, Grima, Natalie, Galper, Jasmin, Mehta, Prachi, Freckleton, Sarah E, Zhang, Katharine Y, Henden, Lyndal, Hogan, Alison L, Chan Moi Fat, Sandrine, Wu, Sharlynn SL, Jagaraj, Cyril J, Berning, Britt A, Williams, Kelly Louise, Twine, Natalie A, Bauer, Denis, Piguet, Olivier, Hodges, John, Kwok, John B J, Halliday, Glenda M, Kiernan, Matthew C, Atkin, Julie, Rowe, Dominic B, Nicholson, Garth A, Walker, Adam K, Blair, Ian P, Yang, Shu
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2020)
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Journal Article
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development
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
Published in Neuron (Cambridge, Mass.) (17.05.2017)
Published in Neuron (Cambridge, Mass.) (17.05.2017)
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Journal Article
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
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 in PLoS genetics (01.07.2016)
Published in PLoS genetics (01.07.2016)
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