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The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.
Published in:
2016
By:
- Han-Jou Chen;
- Mitchell, Jacqueline C.;
- Novoselov, Sergey;
- Miller, Jack;
- Nishimura, Agnes L.;
- Scotter, Emma L.;
- Vance, Caroline A.;
- Cheetham, Michael E.;
- Shaw, Christopher E.;
- Chen, Han-Jou
Publication type:
journal article
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.
Published in:
Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0235-x
By:
- King, Andrew;
- Troakes, Claire;
- Smith, Bradley;
- Nolan, Matthew;
- Curran, Olimpia;
- Vance, Caroline;
- Shaw, Christopher E.;
- Al-Sarraj, Safa
Publication type:
Article
Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.
Published in:
Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0212-4
By:
- Mitchell, Jacqueline C.;
- Constable, Remy;
- Eva So;
- Vance, Caroline;
- Scotter, Emma;
- Glover, Leanne;
- Hortobagyi, Tibor;
- Arnold, Eveline S.;
- Shuo-Chien Ling;
- McAlonis, Melissa;
- Da Cruz, Sandrine;
- Polymenidou, Magda;
- Tessarolo, Lino;
- Cleveland, Don W.;
- Shaw, Christopher E.
Publication type:
Article
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 1, p. 102, doi. 10.1038/ejhg.2012.98
By:
- Smith, Bradley N;
- Newhouse, Stephen;
- Shatunov, Aleksey;
- Vance, Caroline;
- Topp, Simon;
- Johnson, Lauren;
- Miller, Jack;
- Lee, Younbok;
- Troakes, Claire;
- Scott, Kirsten M;
- Jones, Ashley;
- Gray, Ian;
- Wright, Jamie;
- Hortobágyi, Tibor;
- Al-Sarraj, Safa;
- Rogelj, Boris;
- Powell, John;
- Lupton, Michelle;
- Lovestone, Simon;
- Sapp, Peter C
Publication type:
Article
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01421-9
By:
- Trist, Benjamin G.;
- Fifita, Jennifer A.;
- Hogan, Alison;
- Grima, Natalie;
- Smith, Bradley;
- Troakes, Claire;
- Vance, Caroline;
- Shaw, Christopher;
- Al-Sarraj, Safa;
- Blair, Ian P.;
- Double, Kay L.
Publication type:
Article
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 4, p. 868, doi. 10.1093/brain/awl030
By:
- Caroline Vance;
- Ammar Al-Chalabi;
- Deborah Ruddy;
- Bradley N. Smith;
- Xun Hu;
- Jemeen Sreedharan;
- Teepu Siddique;
- H. Jurgen Schelhaas;
- Benno Kusters;
- Dirk Troost;
- Frank Baas;
- Vianney de Jong;
- Christopher E. Shaw
Publication type:
Article
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
Published in:
2006
By:
- Vance C;
- Al-Chalabi A;
- Ruddy D;
- Smith BN;
- Hu X;
- Sreedharan J;
- Siddique T;
- Schelhaas HJ;
- Kusters B;
- Troost D;
- Baas F;
- de Jong V;
- Shaw CE;
- Vance, Caroline;
- Al-Chalabi, Ammar;
- Ruddy, Deborah;
- Smith, Bradley N;
- Hu, Xun;
- Sreedharan, Jemeen;
- Siddique, Teepu
Publication type:
journal article
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Published in:
Nature Communications, 2016, v. 7, n. 4, p. 11253, doi. 10.1038/ncomms11253
By:
- Williams, Kelly L.;
- Topp, Simon;
- Yang, Shu;
- Smith, Bradley;
- Fifita, Jennifer A.;
- Warraich, Sadaf T.;
- Zhang, Katharine Y.;
- Farrawell, Natalie;
- Vance, Caroline;
- Hu, Xun;
- Chesi, Alessandra;
- Leblond, Claire S.;
- Lee, Albert;
- Rayner, Stephanie L.;
- Sundaramoorthy, Vinod;
- Dobson-Stone, Carol;
- Molloy, Mark P.;
- van Blitterswijk, Marka;
- Dickson, Dennis W.;
- Petersen, Ronald C.
Publication type:
Article
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Published in:
Science Translational Medicine, 2017, v. 9, n. 388, p. 1, doi. 10.1126/scitranslmed.aad9157
By:
- Smith, Bradley N.;
- Topp, Simon D.;
- Fallini, Claudia;
- Hideki Shibata;
- Han-Jou Chen;
- Troakes, Claire;
- King, Andrew;
- Ticozzi, Nicola;
- Kenna, Kevin P.;
- Soragia-Gkazi, Athina;
- Miller, Jack W.;
- Akane Sato;
- Dias, Diana Marques;
- Jeon, Maryangel;
- Vance, Caroline;
- Chun Hao Wong;
- de Majo, Martina;
- Kattuah, Wejdan;
- Mitchell, Jacqueline C.;
- Scotter, Emma L.
Publication type:
Article
Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUS<sup>WT</sup> transgenic mice.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 3, p. 463, doi. 10.1093/hmg/ddx415
By:
- So, Eva;
- Mitchell, Jacqueline C.;
- Memmi, Caroline;
- Chennell, George;
- Vizcay-Barrena, Gema;
- Allison, Leanne;
- Shaw, Christopher E.;
- Vance, Caroline
Publication type:
Article
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 13, p. 2676, doi. 10.1093/hmg/ddt117
By:
- Vance, Caroline;
- Scotter, Emma L.;
- Nishimura, Agnes L.;
- Troakes, Claire;
- Mitchell, Jacqueline C.;
- Kathe, Claudia;
- Urwin, Hazel;
- Manser, Catherine;
- Miller, Christopher C.;
- Hortobágyi, Tibor;
- Dragunow, Mike;
- Rogelj, Boris;
- Shaw, Christopher E.
Publication type:
Article
Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain.
Published in:
Acta Neuropathologica, 2017, v. 134, n. 1, p. 113, doi. 10.1007/s00401-017-1726-6
By:
- Trist, Benjamin;
- Davies, Katherine;
- Cottam, Veronica;
- Genoud, Sian;
- Ortega, Richard;
- Roudeau, Stéphane;
- Carmona, Asuncion;
- Silva, Kasun;
- Wasinger, Valerie;
- Lewis, Simon;
- Sachdev, Perminder;
- Smith, Bradley;
- Troakes, Claire;
- Vance, Caroline;
- Shaw, Christopher;
- Al-Sarraj, Safa;
- Ball, Helen;
- Halliday, Glenda;
- Hare, Dominic;
- Double, Kay
Publication type:
Article
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion.
Published in:
Acta Neuropathologica, 2013, v. 125, n. 2, p. 273, doi. 10.1007/s00401-012-1043-z
By:
- Mitchell, Jacqueline;
- McGoldrick, Philip;
- Vance, Caroline;
- Hortobagyi, Tibor;
- Sreedharan, Jemeen;
- Rogelj, Boris;
- Tudor, Elizabeth;
- Smith, Bradley;
- Klasen, Christian;
- Miller, Christopher;
- Cooper, Jonathan;
- Greensmith, Linda;
- Shaw, Christopher
Publication type:
Article
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.
Published in:
Acta Neuropathologica, 2011, v. 121, n. 4, p. 519, doi. 10.1007/s00401-011-0813-3
By:
- Hortobágyi, Tibor;
- Troakes, Claire;
- Nishimura, Agnes L.;
- Vance, Caroline;
- van Swieten, John C.;
- Seelaar, Harro;
- King, Andrew;
- Al-Sarraj, Safa;
- Rogelj, Boris;
- Shaw, Christopher E.
Publication type:
Article
Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic.
Published in:
2013
By:
- Youn-Bok Lee;
- Han-Jou Chen;
- Peres, João N.;
- Gomez, Jorge;
- Sardone, Valentina;
- Nishimura, Agnes L.;
- Scotter, Emma;
- Vance, Caroline;
- Štalekar, Maja;
- Adachi, Yoshitsugu;
- Troakes, Claire;
- Miller, Jack;
- Smith, Bradley;
- Hirth, Frank;
- Rogelj, Boris;
- Houart, Corinne;
- Shaw, Christopher E.
Publication type:
Abstract
Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis.
Published in:
PLoS Genetics, 2008, v. 4, n. 9, p. 1, doi. 10.1371/journal.pgen.1000193
By:
- Rutherford, Nicola J.;
- Yong-Jie Zhang;
- Baker, Matt;
- Gass, Jennifer M.;
- Finch, NiCole A.;
- Ya-Fei Xu;
- Stewart, Heather;
- Kelley, Brendan J.;
- Kuntz, Karen;
- Crook, Richard J. P.;
- Sreedharan, Jemeen;
- Vance, Caroline;
- Sorenson, Eric;
- Lippa, Carol;
- Bigio, Eileen H.;
- Geschwind, Daniel H.;
- Knopman, David S.;
- Mitsumoto, Hiroshi;
- Petersen, Ronald C.;
- Cashman, Neil R.
Publication type:
Article
An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.
Published in:
Neuropathology, 2012, v. 32, n. 5, p. 505, doi. 10.1111/j.1440-1789.2011.01286.x
By:
- Troakes, Claire;
- Maekawa, Satomi;
- Wijesekera, Lokesh;
- Rogelj, Boris;
- Siklós, László;
- Bell, Christopher;
- Smith, Bradley;
- Newhouse, Stephen;
- Vance, Caroline;
- Johnson, Lauren;
- Hortobágyi, Tibor;
- Shatunov, Aleksey;
- Al-Chalabi, Ammar;
- Leigh, Nigel;
- Shaw, Christopher E.;
- King, Andrew;
- Al-Sarraj, Safa
Publication type:
Article

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