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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy. [electronic resource] by
- Chen, Han-Jou
- Topp, Simon D
- Hui, Ho Sang
- Zacco, Elsa
- Katarya, Malvika
- McLoughlin, Conor
- King, Andrew
- Smith, Bradley N
- Troakes, Claire
- Pastore, Annalisa
- Shaw, Christopher E
Producer: 20200521
In:
Brain : a journal of neurology vol. 142
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7.
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Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. [electronic resource] by
- Niblock, Michael
- Smith, Bradley N
- Lee, Youn-Bok
- Sardone, Valentina
- Topp, Simon
- Troakes, Claire
- Al-Sarraj, Safa
- Leblond, Claire S
- Dion, Patrick A
- Rouleau, Guy A
- Shaw, Christopher E
- Gallo, Jean-Marc
Producer: 20161014
In:
Acta neuropathologica communications vol. 4
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8.
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ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients. [electronic resource] by
- Iacoangeli, Alfredo
- Al Khleifat, Ahmad
- Sproviero, William
- Shatunov, Aleksey
- Jones, Ashley R
- Opie-Martin, Sarah
- Naselli, Ersilia
- Topp, Simon D
- Fogh, Isabella
- Hodges, Angela
- Dobson, Richard J
- Newhouse, Stephen J
- Al-Chalabi, Ammar
Producer: 20200417
In:
Amyotrophic lateral sclerosis & frontotemporal degeneration vol. 20
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9.
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The role of positive selection in determining the molecular cause of species differences in disease. [electronic resource] by
- Vamathevan, Jessica J
- Hasan, Samiul
- Emes, Richard D
- Amrine-Madsen, Heather
- Rajagopalan, Dilip
- Topp, Simon D
- Kumar, Vinod
- Word, Michael
- Simmons, Mark D
- Foord, Steven M
- Sanseau, Philippe
- Yang, Ziheng
- Holbrook, Joanna D
Producer: 20081114
In:
BMC evolutionary biology vol. 8
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Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. [electronic resource] by
- Gkazi, Soragia Athina
- Troakes, Claire
- Topp, Simon
- Miller, Jack W
- Vance, Caroline A
- Sreedharan, Jemeen
- Al-Chalabi, Ammar
- Kirby, Janine
- Shaw, Pamela J
- Al-Sarraj, Safa
- King, Andrew
- Smith, Bradley N
- Shaw, Christopher E
Producer: 20191219
In:
Neurobiology of aging vol. 73
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11.
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Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias. [electronic resource] by
- Mehta, Puja R
- Jones, Ashley R
- Opie-Martin, Sarah
- Shatunov, Aleksey
- Iacoangeli, Alfredo
- Al Khleifat, Ahmad
- Smith, Bradley N
- Topp, Simon
- Morrison, Karen E
- Shaw, Pamela J
- Shaw, Christopher E
- Morgan, Sarah
- Pittman, Alan
- Al-Chalabi, Ammar
Producer: 20191209
In:
Journal of neurology, neurosurgery, and psychiatry vol. 90
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12.
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Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe. [electronic resource] by
- Rubio, Justin P
- Topp, Simon
- Warren, Liling
- St Jean, Pamela L
- Wegmann, Daniel
- Kessner, Darren
- Novembre, John
- Shen, Judong
- Fraser, Dana
- Aponte, Jennifer
- Nangle, Keith
- Cardon, Lon R
- Ehm, Margaret G
- Chissoe, Stephanie L
- Whittaker, John C
- Nelson, Matthew R
- Mooser, Vincent E
Producer: 20120927
In:
Human mutation vol. 33
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13.
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The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. [electronic resource] by
- Wong, Chun Hao
- Topp, Simon
- Gkazi, Athina Soragia
- Troakes, Claire
- Miller, Jack W
- de Majo, Martina
- Kirby, Janine
- Shaw, Pamela J
- Morrison, Karen E
- de Belleroche, Jacqueline
- Vance, Caroline A
- Al-Chalabi, Ammar
- Al-Sarraj, Safa
- Shaw, Christopher E
- Smith, Bradley N
Producer: 20160519
In:
Neurobiology of aging vol. 36
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14.
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Novel mutations support a role for Profilin 1 in the pathogenesis of ALS. [electronic resource] by
- Smith, Bradley N
- Vance, Caroline
- Scotter, Emma L
- Troakes, Claire
- Wong, Chun Hao
- Topp, Simon
- Maekawa, Satomi
- King, Andrew
- Mitchell, Jacqueline C
- Lund, Karan
- Al-Chalabi, Ammar
- Ticozzi, Nicola
- Silani, Vincenzo
- Sapp, Peter
- Brown, Robert H
- Landers, John E
- Al-Sarraj, Safa
- Shaw, Christopher E
Producer: 20151124
In:
Neurobiology of aging vol. 36
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15.
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Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development. [electronic resource] by
- 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
Producer: 20170808
In:
Neuron vol. 94
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16.
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Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development. [electronic resource] by
- 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
Publication details: Neuron 05 2017
In:
Neuron vol. 94
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17.
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Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation. [electronic resource] by
- Warren, Liling L
- Li, Li
- Nelson, Matthew R
- Ehm, Margaret G
- Shen, Judong
- Fraser, Dana J
- Aponte, Jennifer L
- Nangle, Keith L
- Slater, Andrew J
- Woollard, Peter M
- Hall, Matt D
- Topp, Simon D
- Yuan, Xin
- Cardon, Lon R
- Chissoe, Stephanie L
- Mooser, Vincent
- Morris, Andrew D
- Palmer, Colin N A
- Perry, John R
- Frayling, Timothy M
- Whittaker, John C
- Waterworth, Dawn M
Producer: 20120628
In:
Diabetes vol. 61
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18.
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Cloning and functional expression of a human orthologue of rat vanilloid receptor-1. [electronic resource] by
- Hayes, Philip
- Meadows, Helen J
- Gunthorpe, Martin J
- Harries, Mark H
- Duckworth, Malcolm D
- Cairns, William
- Harrison, David C
- Clarke, Catherine E
- Ellington, Kathryn
- Prinjha, Rab K
- Barton, Amanda J L
- Medhurst, Andrew D
- Smith, Graham D
- Topp, Simon
- Murdock, Paul
- Sanger, Gareth J
- Terrett, John
- Jenkins, Owen
- Benham, Christopher D
- Randall, Andrew D
- Gloger, Isro S
- Davis, John B
Producer: 20010108
In:
Pain vol. 88
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19.
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An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. [electronic resource] by
- Nelson, Matthew R
- Wegmann, Daniel
- Ehm, Margaret G
- Kessner, Darren
- St Jean, Pamela
- Verzilli, Claudio
- Shen, Judong
- Tang, Zhengzheng
- Bacanu, Silviu-Alin
- Fraser, Dana
- Warren, Liling
- Aponte, Jennifer
- Zawistowski, Matthew
- Liu, Xiao
- Zhang, Hao
- Zhang, Yong
- Li, Jun
- Li, Yun
- Li, Li
- Woollard, Peter
- Topp, Simon
- Hall, Matthew D
- Nangle, Keith
- Wang, Jun
- Abecasis, Gonçalo
- Cardon, Lon R
- Zöllner, Sebastian
- Whittaker, John C
- Chissoe, Stephanie L
- Novembre, John
- Mooser, Vincent
Producer: 20120723
In:
Science (New York, N.Y.) vol. 337
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20.
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Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. [electronic resource] by
- Farhan, Sali M K
- Howrigan, Daniel P
- Abbott, Liam E
- Klim, Joseph R
- Topp, Simon D
- Byrnes, Andrea E
- Churchhouse, Claire
- Phatnani, Hemali
- Smith, Bradley N
- Rampersaud, Evadnie
- Wu, Gang
- Wuu, Joanne
- Shatunov, Aleksey
- Iacoangeli, Alfredo
- Al Khleifat, Ahmad
- Mordes, Daniel A
- Ghosh, Sulagna
- Eggan, Kevin
- Rademakers, Rosa
- McCauley, Jacob L
- Schüle, Rebecca
- Züchner, Stephan
- Benatar, Michael
- Taylor, J Paul
- Nalls, Michael
- Gotkine, Marc
- Shaw, Pamela J
- Morrison, Karen E
- Al-Chalabi, Ammar
- Traynor, Bryan
- Shaw, Christopher E
- Goldstein, David B
- Harms, Matthew B
- Daly, Mark J
- Neale, Benjamin M
Producer: 20200131
In:
Nature neuroscience vol. 22
Availability: No items available.
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