ALS-associated TDP-43 induces endoplasmic reticulum stress, which drives cytoplasmic TDP-43 accumulation and stress granule formation
Walker, Adam K, Soo, Kai Y, Sundaramoorthy, Vinod, Parakh, Sonam, Ma, Yi, Farg, Manal A, Wallace, Robyn H, Crouch, Peter J, Turner, Bradley J, Horne, Malcolm K, Atkin, Julie D
Published in PloS one (29.11.2013)
Published in PloS one (29.11.2013)
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Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
Benyamin, Beben, He, Ji, Zhao, Qiongyi, Gratten, Jacob, Garton, Fleur, Leo, Paul J., Liu, Zhijun, Mangelsdorf, Marie, Al-Chalabi, Ammar, Anderson, Lisa, Butler, Timothy J., Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Devine, Matthew, Edson, Janette, Fifita, Jennifer A., Furlong, Sarah, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jeffree, Rosalind L., Jin, Zi-Bing, Li, Zhongshan, Li, Ting, Li, Mengmeng, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, McCann, Emily P., Mowry, Bryan J., Ngo, Shyuan T., Pamphlett, Roger, Ran, Shu, Reutens, David C., Rowe, Dominic B., Sachdev, Perminder, Shah, Sonia, Song, Sharon, Tan, Li-Jun, Tang, Lu, van den Berg, Leonard H., van Rheenen, Wouter, Veldink, Jan H., Wallace, Robyn H., Wheeler, Lawrie, Williams, Kelly L., Wu, Jinyu, Wu, Xin, Yang, Jian, Yue, Weihua, Zhang, Zong-Hong, Zhang, Dai, Noakes, Peter G., Blair, Ian P., Henderson, Robert D., McCombe, Pamela A., Visscher, Peter M., Xu, Huji, Bartlett, Perry F., Brown, Matthew A., Wray, Naomi R., Fan, Dongsheng
Published in Nature communications (20.09.2017)
Published in Nature communications (20.09.2017)
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DNA variation in the SNAP25 gene confers risk to ADHD and is associated with reduced expression in prefrontal cortex
Hawi, Ziarih, Matthews, Natasha, Wagner, Joseph, Wallace, Robyn H, Butler, Tim J, Vance, Alasdair, Kent, Lindsey, Gill, Michael, Bellgrove, Mark A
Published in PloS one (12.04.2013)
Published in PloS one (12.04.2013)
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A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Bassuk, Alexander G., Wallace, Robyn H., Buhr, Aimee, Buller, Andrew R., Afawi, Zaid, Shimojo, Masahito, Miyata, Shingo, Chen, Shan, Gonzalez-Alegre, Pedro, Griesbach, Hilary L., Wu, Shu, Nashelsky, Marcus, Vladar, Eszter K., Antic, Dragana, Ferguson, Polly J., Cirak, Sebahattin, Voit, Thomas, Scott, Matthew P., Axelrod, Jeffrey D., Gurnett, Christina, Daoud, Azhar S., Kivity, Sara, Neufeld, Miriam Y., Mazarib, Aziz, Straussberg, Rachel, Walid, Simri, Korczyn, Amos D., Slusarski, Diane C., Berkovic, Samuel F., El-Shanti, Hatem I.
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
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Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain
Narayanan, Ramesh K., Mangelsdorf, Marie, Panwar, Ajay, Butler, Tim J., Noakes, Peter G., Wallace, Robyn H.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.05.2013)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.05.2013)
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Latent Stem and Progenitor Cells in the Hippocampus Are Activated by Neural Excitation
Walker, Tara L, White, Amanda, Black, Debra M, Wallace, Robyn H, Sah, Pankaj, Bartlett, Perry F
Published in The Journal of neuroscience (14.05.2008)
Published in The Journal of neuroscience (14.05.2008)
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Non-invasive diffusion tensor imaging detects white matter degeneration in the spinal cord of a mouse model of amyotrophic lateral sclerosis
Underwood, Clare K., Kurniawan, Nyoman D., Butler, Tim J., Cowin, Gary J., Wallace, Robyn H.
Published in NeuroImage (Orlando, Fla.) (15.03.2011)
Published in NeuroImage (Orlando, Fla.) (15.03.2011)
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Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
Gratten, Jacob, Zhao, Qiongyi, Benyamin, Beben, Garton, Fleur, He, Ji, Leo, Paul J, Mangelsdorf, Marie, Anderson, Lisa, Zhang, Zong-Hong, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Edson, Janette, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K, Jin, Zi-Bing, Li, Zhongshan, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, Mowry, Bryan J, Ran, Shu, Reutens, David C, Song, Sharon, Tan, Li-Jun, Tang, Lu, Wallace, Robyn H, Wheeler, Lawrie, Wu, Jinyu, Yang, Jian, Xu, Huji, Visscher, Peter M, Bartlett, Perry F, Brown, Matthew A, Wray, Naomi R, Fan, Dongsheng
Published in Genome medicine (17.11.2017)
Published in Genome medicine (17.11.2017)
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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Lower, Karen M, Lütcherath, Viggo, Gécz, Jozef, Frints, Suzanna G.M, Partington, Michael, Strømme, Petter, Scheffer, Ingrid E, Gedeon, Ági K, Lewis, Suzanne M.E, Turner, Gillian, Fryns, Jean-Pierre, Sutherland, Grant R, Wallace, Robyn H, Mangelsdorf, Marie E, Shaw, Marie A, Mulley, John C, Bruyere, Helene
Published in Nature genetics (01.04.2002)
Published in Nature genetics (01.04.2002)
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PGRMC1 effects on metabolism, genomic mutation and CpG methylation imply crucial roles in animal biology and disease
Thejer, Bashar M, Adhikary, Partho P, Teakel, Sarah L, Fang, Johnny, Weston, Paul A, Gurusinghe, Saliya, Anwer, Ayad G, Gosnell, Martin, Jazayeri, Jalal A, Ludescher, Marina, Gray, Lesley-Ann, Pawlak, Michael, Wallace, Robyn H, Pant, Sameer D, Wong, Marie, Fischer, Tamas, New, Elizabeth J, Fehm, Tanja N, Neubauer, Hans, Goldys, Ewa M, Quinn, Jane C, Weston, Leslie A, Cahill, Michael A
Published in BMC cell biology (15.04.2020)
Published in BMC cell biology (15.04.2020)
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Magnetic resonance microimaging of the spinal cord in the SOD1 mouse model of amyotrophic lateral sclerosis detects motor nerve root degeneration
Cowin, Gary J., Butler, Tim J., Kurniawan, Nyoman D., Watson, Charles, Wallace, Robyn H.
Published in NeuroImage (Orlando, Fla.) (01.09.2011)
Published in NeuroImage (Orlando, Fla.) (01.09.2011)
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Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families
Marini, Carla, Scheffer, Ingrid E., Crossland, Kathryn M., Grinton, Bronwyn E., Phillips, Fiona L., McMahon, Jacinta M., Turner, Samantha J., Dean, Joanne T., Kivity, Sara, Mazarib, Aziz, Neufeld, Miriam Y., Korczyn, Amos D., Harkin, Louise A., Dibbens, Leanne M., Wallace, Robyn H., Mulley, John C., Berkovic, Samuel F.
Published in Epilepsia (Copenhagen) (01.05.2004)
Published in Epilepsia (Copenhagen) (01.05.2004)
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Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [γ2(R43Q)] found in human epilepsy
Bowser, David N, Wagner, David A, Czajkowski, Cynthia, Cromer, Brett A, Parker, Michael W, Wallace, Robyn H, Harkin, Louise A, Mulley, John C, Marini, Carla, Berkovic, Samuel F, Williams, David A, Jones, Mathew V, Petrou, Steven
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (12.11.2002)
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The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD
Matthews, Natasha, Vance, Alasdair, Cummins, Tarrant D R, Wagner, Joseph, Connolly, Amanda, Yamada, Jacqueline, Lockhart, Paul J, Panwar, Ajay, Wallace, Robyn H, Bellgrove, Mark A
Published in Behavioral and brain functions (28.05.2012)
Published in Behavioral and brain functions (28.05.2012)
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Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12
Berkovic, Samuel F., Serratosa, Jose M., Phillips, Hilary A., Xiong, Lan, Andermann, Eva, Díaz‐Otero, Fernando, Gómez‐Garre, Pilar, Martín, Mercedes, Fernández‐Bullido, Yolanda, Andermann, Frederick, Lopes‐Cendes, Iscia, Dubeau, Francois, Desbiens, Richard, Scheffer, Ingrid E., Wallace, Robyn H., Mulley, John C., Pandolfo, Massimo
Published in Epilepsia (Copenhagen) (01.09.2004)
Published in Epilepsia (Copenhagen) (01.09.2004)
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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
Scheffer, Ingrid E., Harkin, Louise A., Grinton, Bronwyn E., Dibbens, Leanne M., Turner, Samantha J., Zielinski, Marta A., Xu, Ruwei, Jackson, Graeme, Adams, Judith, Connellan, Mary, Petrou, Steven, Wellard, R. Mark, Briellmann, Regula S., Wallace, Robyn H., Mulley, John C., Berkovic, Samuel F.
Published in Brain (London, England : 1878) (01.01.2007)
Published in Brain (London, England : 1878) (01.01.2007)
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Truncation of the GABAA-Receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
HARKIN, Louise A, BOWSER, David N, SCHEFFER, Ingrid E, PETROU, Steven, DIBBENS, Leanne M, SINGH, Rita, PHILLIPS, Fiona, WALLACE, Robyn H, RICHARDS, Michaella C, WILLIAMS, David A, MULLEY, John C, BERKOVIC, Samuel F
Published in American journal of human genetics (01.02.2002)
Published in American journal of human genetics (01.02.2002)
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Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms
Narayanan, Ramesh K, Panwar, Ajay, Butler, Tim J, Cutrupi, Anthony N, Kennerson, Marina, Vucic, Steve, Ashokkumar, Balasubramaniem, Mangelsdorf, Marie, Wallace, Robyn H
Published in microPublication biology (2023)
Published in microPublication biology (2023)
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A high density linkage disequilibrium mapping in 14 noradrenergic genes: evidence of association between SLC6A2, ADRA1B and ADHD
Hawi, Ziarih, Matthews, Natasha, Barry, Edwina, Kirley, Aiveen, Wagner, Joseph, Wallace, Robyn H., Heussler, Helen S., Vance, Alasdair, Gill, Michael, Bellgrove, Mark A.
Published in Psychopharmacology (01.02.2013)
Published in Psychopharmacology (01.02.2013)
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Multiplex families with epilepsy: Success of clinical and molecular genetic characterization
Afawi, Zaid, Oliver, Karen L, Kivity, Sara, Mazarib, Aziz, Blatt, Ilan, Neufeld, Miriam Y, Helbig, Katherine L, Goldberg-Stern, Hadassa, Misk, Adel J, Straussberg, Rachel, Walid, Simri, Mahajnah, Muhammad, Lerman-Sagie, Tally, Ben-Zeev, Bruria, Kahana, Esther, Masalha, Rafik, Kramer, Uri, Ekstein, Dana, Shorer, Zamir, Wallace, Robyn H, Mangelsdorf, Marie, MacPherson, James N, Carvill, Gemma L, Mefford, Heather C, Jackson, Graeme D, Scheffer, Ingrid E, Bahlo, Melanie, Gecz, Jozef, Heron, Sarah E, Corbett, Mark, Mulley, John C, Dibbens, Leanne M, Korczyn, Amos D, Berkovic, Samuel F
Published in Neurology (23.02.2016)
Published in Neurology (23.02.2016)
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