Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
DENG, Han-Xiang, CHEN, Wenjie, HUJUN JIANG, HIRANO, Makito, RAMPERSAUD, Evadnie, JANSEN, Gerard H, DONKERVOORT, Sandra, BIGIO, Eileen H, BROOKS, Benjamin R, AJROUD, Kaouther, SUFIT, Robert L, HAINES, Jonathan L, HONG, Seong-Tshool, MUGNAINI, Enrico, PERICAK-VANCE, Margaret A, SIDDIQUE, Teepu, BOYCOTT, Kym M, GORRIE, George H, SIDDIQUE, Nailah, YI YANG, FECTO, Faisal, YONG SHI, HONG ZHAI
Published in Nature (London) (08.09.2011)
Published in Nature (London) (08.09.2011)
Get full text
Journal Article
Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland
Leighton, Danielle J., Ansari, Morad, Newton, Judith, Parry, David, Cleary, Elaine, Colville, Shuna, Stephenson, Laura, Larraz, Juan, Johnson, Micheala, Beswick, Emily, Wong, Michael, Gregory, Jenna, Carod Artal, Javier, Davenport, Richard, Duncan, Callum, Morrison, Ian, Smith, Colin, Swingler, Robert, Deary, Ian J., Porteous, Mary, Aitman, Timothy J., Chandran, Siddharthan, Gorrie, George H., Pal, Suvankar
Published in Journal of neurology (01.03.2023)
Published in Journal of neurology (01.03.2023)
Get full text
Journal Article
Efficacy of erenumab and factors predicting response after 3 months in treatment resistant chronic migraine: a clinical service evaluation
Lowe, Michael, Murray, Lesley, Tyagi, Alok, Gorrie, George, Miller, Sarah, Dani, Krishna
Published in Journal of headache and pain (01.12.2022)
Published in Journal of headache and pain (01.12.2022)
Get full text
Journal Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L., Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L., Alston, Charlotte L., Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H., Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R., Jaiser, Stephan R., Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M., Turnbull, Douglass M., Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F.
Published in Brain (London, England : 1878) (01.05.2014)
Published in Brain (London, England : 1878) (01.05.2014)
Get full text
Journal Article
Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2
Gorrie, George H., Fecto, Faisal, Radzicki, Daniel, Weiss, Craig, Shi, Yong, Dong, Hongxin, Zhai, Hong, Fu, Ronggen, Liu, Erdong, Li, Sisi, Arrat, Hasan, Bigio, Eileen H., Disterhoft, John F., Martina, Marco, Mugnaini, Enrico, Siddique, Teepu, Deng, Han-Xiang
Published in Proceedings of the National Academy of Sciences - PNAS (07.10.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (07.10.2014)
Get full text
Journal Article
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
Published in Neurobiology of aging (01.03.2017)
Published in Neurobiology of aging (01.03.2017)
Get full text
Journal Article
Conversion to the Amyotrophic Lateral Sclerosis Phenotype Is Associated with Intermolecular Linked Insoluble Aggregates of SOD1 in Mitochondria
Deng, Han-Xiang, Shi, Yong, Furukawa, Yoshiaki, Zhai, Hong, Fu, Ronggen, Liu, Erdong, Gorrie, George H., Khan, Mohammad S., Hung, Wu-Yen, Bigio, Eileen H., Lukas, Thomas, Canto, Mauro C. Dal, O'Halloran, Thomas V., Siddique, Teepu
Published in Proceedings of the National Academy of Sciences - PNAS (02.05.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (02.05.2006)
Get full text
Journal Article
Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland
Leighton, Danielle J., Ansari, Morad, Newton, Judith, Cleary, Elaine, Stephenson, Laura, Beswick, Emily, Carod Artal, Javier, Davenport, Richard, Duncan, Callum, Gorrie, George H., Morrison, Ian, Swingler, Robert, Deary, Ian J., Porteous, Mary, Chandran, Siddharthan, Pal, Suvankar
Published in Journal of neurology (01.08.2024)
Published in Journal of neurology (01.08.2024)
Get full text
Journal Article
Improved survival and 30-day mortality after gastrostomy in Scottish motor neurone disease patients: evidence from a national retrospective cohort study using STROBE criteria
Gorrie, George H., Chandran, Siddharthan, Colville, Shuna, Newton, Judith, Leighton, Danielle, Mcdonald, Menai, Pal, Suvankar, Forbes, Raeburn, Hair, Mario, Swingler, Robert
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2019)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2019)
Get full text
Journal Article
Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective
Wong, Charis, Stavrou, Maria, Elliott, Elizabeth, Gregory, Jenna M, Leigh, Nigel, Pinto, Ashwin A, Williams, Timothy L, Chataway, Jeremy, Swingler, Robert, Parmar, Mahesh K B, Stallard, Nigel, Weir, Christopher J, Parker, Richard A, Chaouch, Amina, Hamdalla, Hisham, Ealing, John, Gorrie, George, Morrison, Ian, Duncan, Callum, Connelly, Peter, Carod-Artal, Francisco Javier, Davenport, Richard, Reitboeck, Pablo Garcia, Radunovic, Aleksandar, Srinivasan, Venkataramanan, Preston, Jenny, Mehta, Arpan R, Leighton, Danielle, Glasmacher, Stella, Beswick, Emily, Williamson, Jill, Stenson, Amy, Weaver, Christine, Newton, Judith, Lyle, Dawn, Dakin, Rachel, Macleod, Malcolm, Pal, Suvankar, Chandran, Siddharthan
Published in Brain communications (01.10.2021)
Published in Brain communications (01.10.2021)
Get full text
Journal Article
Corrigendum to “Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.” [Neurobiol. Aging 51 (2017) 178.e11–178.e20]
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
Published in Neurobiology of aging (01.08.2017)
Published in Neurobiology of aging (01.08.2017)
Get full text
Journal Article
Distal axonopathy in an alsin-deficient mouse model
Deng, Han-Xiang, Zhai, Hong, Fu, Ronggen, Shi, Yong, Gorrie, George H., Yang, Yi, Liu, Erdong, Dal Canto, Mauro C., Mugnaini, Enrico, Siddique, Teepu
Published in Human molecular genetics (01.12.2007)
Published in Human molecular genetics (01.12.2007)
Get full text
Journal Article
Cancer and motor neuron disease—causal or coincidental? Two contrasting cases
Goodfellow, John, Gorrie, George, Leach, Veronica, Patel, Sameer, Mackay, Graham
Published in Neurological sciences (01.07.2019)
Published in Neurological sciences (01.07.2019)
Get full text
Journal Article
050 Evaluation of 3 month data for the use of erenumab for chronic migraine in Glasgow
Dani, Krishna, Murray, Lesley, Benchiheub, Anissa, Gorrie, George, Selvarajah, Johann, Sharma, Sandeep, McKenzie, Michael, McCorkell, Laura, Rankin, Christine, Tyagi, Alok
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Get full text
Journal Article
Changing epidemiology of motor neurone disease in Scotland
Leighton, Danielle J., Newton, Judith, Stephenson, Laura J., Colville, Shuna, Davenport, Richard, Gorrie, George, Morrison, Ian, Swingler, Robert, Chandran, Siddharthan, Pal, Suvankar
Published in Journal of neurology (01.04.2019)
Published in Journal of neurology (01.04.2019)
Get full text
Journal Article
Impaired Autoinhibition of Protein Kinase Cγ in Spinocerebellar Ataxia Type 14
Pilo, Caila A., Kunkel, Maya T., Van, An-Angela N., Kobori, Evan K., Kornev, Alexandr P., Longman, Cheryl, Gorrie, George, Taylor, Susan S., Newton, Alexandra C.
Published in Biophysical journal (07.02.2020)
Published in Biophysical journal (07.02.2020)
Get full text
Journal Article