Caroline Vance

2022

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

Trist, B. G., Genoud, S., Roudeau, S., Rookyard, A., Abdeen, A., Cottam, V., Hare, D. J., White, M., Altvater, J., Fifita, J. A., Hogan, A., Grima, N., Blair, I. P., Kysenius, K., Crouch, P. J., Carmona, A., Rufin, Y., Claverol, S., Van Malderen, S. & Falkenberg, G. & 10 others, Paterson, D. J., Smith, B., Troakes, C., Vance, C., Shaw, C. E., Al-Sarraj, S., Cordwell, S., Halliday, G., Ortega, R. & Double, K. L., 14 Sept 2022, In: Brain : a journal of neurology. 145, 9, p. 3108-3130 23 p.

Research output: Contribution to journal › Article › peer-review

Open Access

45 Citations (Scopus)

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration

Trist, B. G., Fifita, J. A., Hogan, A., Grima, N., Smith, B., Troakes, C., Vance, C., Shaw, C., Al-Sarraj, S., Blair, I. P. & Double, K. L., Dec 2022, In: Acta Neuropathologica Communications. 10, 1, 122.

Research output: Contribution to journal › Article › peer-review

Open Access

23 Citations (Scopus)

2021

A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

Gotkine, M., de Majo, M., Wong, C. H., Topp, S. D., Michaelson-Cohen, R., Epsztejn-Litman, S., Eiges, R., Y, Y. L., Kanaan, M., Shaked, H. M., Alahmady, N., Vance, C., Newhouse, S. J., Breen, G., Nishimura, A. L., Shaw, C. E. & Smith, B. N., Oct 2021, In: Neurobiology of Aging. 106, p. 351.e1-351.e6

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N. & Silani, V. & 277 others, Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., Van Den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M. G., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mora, G., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Lauria, G., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mora, G., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M. & Zucchi, E., Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

55 Citations (Scopus)

Identification of a novel interaction of FUS and syntaphilin may explain synaptic and mitochondrial abnormalities caused by ALS mutations

Salam, S., Tacconelli, S., Smith, B., Mitchell, J., Glennon, E., Nikolaou, N., Houart, C. & Vance, C., 30 Jun 2021, In: Scientific Reports.

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

2019

Antisense oligonucleotide therapies for Amyotrophic Lateral Sclerosis: Existing and emerging targets

Klim, J. R., Vance, C. & Scotter, E. L., May 2019, In: International Journal of Biochemistry and Cell Biology. 110, p. 149-153 5 p.

Research output: Contribution to journal › Short survey › peer-review

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22 Citations (Scopus)

820 Downloads (Pure)

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia and frontotemporal dementia

Gkazi, S. A., Troakes, C., Topp, S., Miller, J. W., Vance, C. A., Sreedharan, J., Al-Chalabi, A., Kirby, J., Shaw, P. J., Al-Sarraj, S., King, A., Smith, B. N. & Shaw, C. E., Jan 2019, In: Neurobiology of Aging. 73, p. 229.e5-229.e9

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14 Citations (Scopus)

310 Downloads (Pure)

2018

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H.-J., Soragia-Gkazi, A., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. L., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E. & Shaw, P. J. & 13 others, Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown Jr., R. H., Silani, V., Landers, J. E. & Shaw, C. E., 1 Nov 2018, In: Neurobiology of Aging. 71, 0, p. 266.e1-266.e10

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66 Citations (Scopus)

386 Downloads (Pure)

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., van der Spek, R., Pliner, H. A., [Unknown], S., Smith, B. N. & Marangi, G. & 38 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Fratta, P., Fogh, I., Al-Sarraj, S., Troakes, C., Vance, C., Shatunov, A., Al-Chalabi, A., Iacoangeli, A., Newhouse, S., Shaw, C., Sproviero, W., Shaw, C. E., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium & Al Khleifat, A., 21 Mar 2018, (E-pub ahead of print) In: Neuron. 97, 6, p. 1268 1 p.

Research output: Contribution to journal › Article › peer-review

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492 Citations (Scopus)

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUS^WT transgenic mice

So, E., Mitchell, J. C., Memmi, C., Chennell, G., Vizcay-Barrena, G., Allison, L., Shaw, C. E. & Vance, C., 1 Feb 2018, In: Human Molecular Genetics. 27, 3, p. 463-474 12 p.

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70 Citations (Scopus)

662 Downloads (Pure)

Review: Modelling the pathology and behaviour of frontotemporal dementia

Solomon, D. A., Mitchell, J. C., Salcher-Konrad, M.-T., Vance, C. A. & Mizielinska, S., 23 Dec 2018, (E-pub ahead of print) In: Neuropathology and Applied Neurobiology. 45, 1, p. 58-80

Research output: Contribution to journal › Review article › peer-review

Open Access

14 Citations (Scopus)

2017

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson’s disease brain

Trist, B. G., Davies, K. M., Cottam, V., Genoud, S., Ortega, R., Roudeau, S., Carmona, A., de Silva, K., Wasinger, V., Lewis, S. J. G., Sachdev, P., Smith, B., Troakes, C., Vance, C., Shaw, C., Al-Sarraj, S., Ball, H. J., Halliday, G. M., Hare, D. J. & Double, K. L., 19 May 2017, (E-pub ahead of print) In: Acta Neuropathologica. p. 1-15 15 p.

Research output: Contribution to journal › Article › peer-review

83 Citations (Scopus)

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H.-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., Dias, D. M., Jeon, M., Vance, C., Wong, C. H., de Majo, M., Kattuah, W., Mitchell, J. C. & Scotter, E. L. & 36 others, Parkin, N. W., Sapp, P. C., Nolan, M., Nestor, P. J., Simpson, M., Weale, M., Lek, M., Baas, F., Vianney de Jong, J. M., Ten Asbroek, A. L. M. A., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Leigh, N., Pall, H., Morrison, K. E., Al-Chalabi, A., Shaw, P. J., Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., De Belleroche, J., Maki, M., Moss, S. E., Miller, C., Gellera, C., Ratti, A., Al-Sarraj, S., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., 3 May 2017, In: Science Translational Medicine. 9, 388, 16 p., eaad9157.

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131 Citations (Scopus)

565 Downloads (Pure)

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Thomas-Jinu, S., Gordon, P. M., Fielding, T., Taylor, R., Smith, B. N., Snowden, V., Blanc, E., Vance, C., Topp, S., Wong, C.-H., Bielen, H., Williams, K., McCann, E. P., Nicholson, G. A., Pan-Vazquez, A., Fox, A. H., Bond, C. S., Talbot, W. S., Blair, I. P. & Shaw, C. E. & 1 others, Houart, C., 19 Apr 2017, In: Neuron. 94, 2, p. 332-336 e5.

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53 Citations (Scopus)

371 Downloads (Pure)

2016

C9ORF72 and UBQLN2 are genetic causes of ALS in New Zealand: A genetic and pathological study using banked human brain tissue

Scotter, E. L., Smyth, L., Bailey, J. W. T., Wong, C. H., de Majo, M., Vance, C. A., Synek, B. J., Turner, C., Pereira, J., Charleston, A., Waldvogel, H. J., Curtis, M. A., Dragunow, M., Shaw, C. E., Smith, B. N. & Faull, R. L. M., 5 Jul 2016, (E-pub ahead of print) In: Neurobiology of Aging.

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Open Access

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17 Citations (Scopus)

388 Downloads (Pure)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, K. P., van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., van Rheenen, W., van Eijk, K. R., Jones, A. R., Keagle, P., Shatunov, A., Sproviero, W., Smith, B. N., van Es, M. A., Topp, S. D., Kenna, A., Miller, J. W., Fallini, C., Tiloca, C. & McLaughlin, R. L. & 31 others, Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., de Belleroche, J., Baas, F., van der Kooi, A. J., de Visser, M., Ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E., Lauria, G., Williams, K. L., Leigh, P. N., Nicholson, G. A., Turner, M. R., Glass, J. D., Al-Chalabi, A., Shaw, C. E. & SLAGEN Consortium, 1 Sept 2016, In: Nature Genetics. 48, 9, p. 1037-42 6 p.

Research output: Contribution to journal › Letter › peer-review

200 Citations (Scopus)

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Chen, H.-J., Mitchell, J. C., Novoselov, S. S., Miller, J. W., Nishimura, A., Scotter, E. L., Vance, C. A., Cheetham, M. E. & Shaw, C. E. D., 1 May 2016, In: Brain. 139, 5, p. 1417–1432

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137 Citations (Scopus)

342 Downloads (Pure)

2015

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

King, A., Troakes, C., Smith, B., Nolan, M., Curran, O., Vance, C., Shaw, C. E. & Al-Sarraj, S., 9 Oct 2015, In: Acta Neuropathologica Communications. 3, p. 62 1 p.

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23 Citations (Scopus)

181 Downloads (Pure)

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Vrabec, K., Koritnik, B., Leonardis, L., Dolenc-Grošelj, L., Zidar, J., Smith, B., Vance, C., Shaw, C., Rogelj, B., Glavač, D. & Ravnik-Glavač, M., 1 Mar 2015, In: Neurobiology of Aging. 36, 3, p. 1601.e17–1601.e20 4 p., 1601.

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Smith, B. N., Vance, C., Scotter, E. L., Troakes, C., Wong, C. H., Topp, S., Maekawa, S., King, A., Mitchell, J. C., Lund, K., Al-Chalabi, A., Ticozzi, N., Silani, V., Sapp, P., Brown, R. H., Landers, J. E., Al-Sarraj, S. & Shaw, C. E., Mar 2015, In: Neurobiology of Aging. 36, 3, p. 1602.e17-1602.e27 11 p.

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87 Citations (Scopus)

171 Downloads (Pure)

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

Wong, C. H., Topp, S., Gkazi, A. S., Troakes, C., Miller, J. W., de Majo, M., Kirby, J., Shaw, P. J., Morrison, K. E., de Belleroche, J., Vance, C. A., Al-Chalabi, A., Al-Sarraj, S., Shaw, C. E. & Smith, B. N., 1 Oct 2015, In: Neurobiology of Aging. 36, 10, p. 2908.e17-2908.e18 2 p.

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

Mitchell, J. C., Constable, R., So, E., Vance, C., Scotter, E., Glover, L., Hortobagyi, T., Arnold, E. S., Ling, S. C., McAlonis, M., Da Cruz, S., Polymenidou, M., Tessarolo, L., Cleveland, D. W. & Shaw, C. E., 25 Jun 2015, In: Acta Neuropathologica Communications. 3, p. 36 1 p.

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78 Citations (Scopus)

259 Downloads (Pure)

2014

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

Kent, L., Vizard, T. N., Smith, B. N., Topp, S. D., Vance, C., Gkazi, A., Miller, J., Shaw, C. E. & Talbot, K., 1 Dec 2014, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 15, 7-8, p. 557-562 6 p.

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

Scotter, E. L., Vance, C., Nishimura, A. L., Lee, Y., Chen, H.-J., Urwin, H., Sardone, V., Mitchell, J. C., Rogelj, B., Rubinsztein, D. C. & Shaw, C. E., 14 Mar 2014, In: Journal of Cell Science. 127, 6, p. 1263-1278 16 p.

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237 Citations (Scopus)

205 Downloads (Pure)

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S., Kenna, K. P., Scotter, E. L., Kost, J., Keagle, P., Miller, J. W., Calini, D., Vance, C., Danielson, E. W., Troakes, C., Tiloca, C., Al-Sarraj, S., Lewis, E. A., King, A., Colombrita, C. & Pensato, V. & 31 others, Castellotti, B., de Belleroche, J., Baas, F., Ten Asbroek, A. L., Sapp, P. C., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Muñoz-Blanco, J. L., Simpson, M., van Rheenen, W., Diekstra, F. P., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Morrison, K. E., Williams, K. L., Nicholson, G. A., Blair, I. P., Dion, P. A., Leblond, C. S., Rouleau, G. A., Hardiman, O., Al-Chalabi, A., Shaw, C. E. & SLAGEN Consortium, 22 Oct 2014, In: Neuron. 84, 2, p. 324-331 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

298 Citations (Scopus)

2013

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

The ALSGEN Consortium, Jan 2013, In: Neurobiology of Aging. 34, 1, p. 357.e7-19 13 p.

Research output: Contribution to journal › Article › peer-review

58 Citations (Scopus)

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

Vance, C., Scotter, E. L., Nishimura, A. L., Troakes, C., Mitchell, J. C., Kathe, C., Urwin, H., Manser, C., Miller, C. C., Hortobágyi, T., Dragunow, M., Rogelj, B. & Shaw, C. E., 1 Jul 2013, In: Human Molecular Genetics. 22, 13, p. 2676-2688 13 p., N/A.

Research output: Contribution to journal › Article › peer-review

Open Access

188 Citations (Scopus)

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

Lee, Y., Chen, H.-J., Peres, J. N., Gomez Deza, J., Attig, J., Stalekar, M., Troakes, C., Nishimura, A. L., Scotter, E. L., Vance, C., Adachi, Y., Sardone, V., Miller, J. W., Smith, B. N., Gallo, J.-M., Ule, J., Hirth, F., Rogelj, B., Houart, C. & Shaw, C. E., 12 Dec 2013, In: Cell Reports. 5, 5, p. 1178-1186 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

388 Citations (Scopus)

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

Mitchell, J. C., McGoldrick, P., Vance, C., Hortobagyi, T., Sreedharan, J., Rogelj, B., Tudor, E. L., Smith, B. N., Klasen, C., Miller, C. C. J., Cooper, J. D., Greensmith, L. & Shaw, C. E., Feb 2013, In: Acta Neuropathologica. 125, 2, p. 273-288 16 p.

Research output: Contribution to journal › Article › peer-review

218 Citations (Scopus)

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Smith, B. N., Newhouse, S., Shatunov, A., Vance, C., Topp, S., Johnson, L., Miller, J., Lee, Y., Troakes, C., Scott, K. M., Jones, A., Gray, I., Wright, J., Hortobágyi, T., Al-Sarraj, S., Rogelj, B., Powell, J., Lupton, M., Lovestone, S. & Sapp, P. C. & 26 others, Weber, M., Nestor, P. J., Schelhaas, H. J., Asbroek, A. A. T., Silani, V., Gellera, C., Taroni, F., Ticozzi, N., Van den Berg, L., Veldink, J., Van Damme, P., Robberecht, W., Shaw, P. J., Kirby, J., Pall, H., Morrison, K. E., Morris, A., de Belleroche, J., Vianney de Jong, J. M. B., Baas, F., Andersen, P. M., Landers, J., Brown, R. H., Weale, M. E., Al-Chalabi, A. & Shaw, C. E., Jan 2013, In: European Journal of Human Genetics. 21, 1, p. 102-108 7 p., N/A.

Research output: Contribution to journal › Article › peer-review

Open Access

198 Citations (Scopus)

2012

Amyotrophic lateral sclerosis and other disorders of the lower motor neuron

Shaw, C. E., Sreedharan, J., Vance, C. A. & Al-Chalabi, A., 1 Jan 2012, Neurogenetics: A Guide for Clinicians. Cambridge University Press, p. 136-147 12 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

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

Troakes, C., Maekawa, S., Wijesekera, L., Rogelj, B., Siklos, L., Bell, C., Smith, B., Newhouse, S., Vance, C., Johnson, L., Hortobagyi, T., Shatunov, A., Al-Chalabi, A., Leigh, N., Shaw, C. E., King, A. & Al-Sarraj, S., Oct 2012, In: Neuropathology. 32, 5, p. 505-514 10 p.

Research output: Contribution to journal › Article › peer-review

111 Citations (Scopus)

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

Miller, J. W., Smith, B. N., Topp, S. D., Al-Chalabi, A., Shaw, C. E. & Vance, C., Nov 2012, In: Neurobiology of Aging. 33, 11, p. - 2 p., 2721.e1.

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

Johnson, L., Miller, J. W., Gkazi, A. S., Vance, C., Topp, S. D., Newhouse, S. J., Al-Chalabi, A., Smith, B. N. & Shaw, C. E., Dec 2012, In: Neurobiology of Aging. 33, 12, p. - 3 p., 2948.e15.

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

Transportin 1 co-localisation with FUS inclusions is not characteristic for ALS-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from FTLD-FUS

Troakes, C., Hortobágyi, T., Vance, C., Al-Sarraj, S., Rogelj, B. & Shaw, C. E., 31 Aug 2012, In: Neuropathology and Applied Neurobiology. 39, 5, p. 553-561 9 p.

Research output: Contribution to journal › Article › peer-review

27 Citations (Scopus)

2011

Mutational Analysis Reveals the FUS Homolog TAF15 as a Candidate Gene for Familial Amyotrophic Lateral Sclerosis

Ticozzi, N., Vance, C., LeClerc, A. L., Keagle, P., Glass, J. D., McKenna-Yasek, D., Sapp, P. C., Silani, V., Bosco, D. A., Shaw, C. E., Brown, R. H. & Landers, J. E., Apr 2011, In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 156B, 3, p. 285 - 290 6 p.

Research output: Contribution to journal › Article › peer-review

137 Citations (Scopus)

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Hortobagyi, T., Troakes, C., Nishimura, A. L., Vance, C., van Swieten, J. C., Seelaar, H., King, A., Al-Sarraj, S., Rogelj, B. & Shaw, C. E., Apr 2011, In: Acta Neuropathologica. 121, 4, p. 519 - 527 9 p.

Research output: Contribution to journal › Article › peer-review

77 Citations (Scopus)

2010

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Shatunov, A., Mok, K., Newhouse, S., Weale, M. E., Smith, B., Vance, C., Johnson, L., Veldink, J. H., van Es, M. A., van den Berg, L. H., Robberecht, W., Van Damme, P., Hardiman, O., Farmer, A. E., Lewis, C. M., Butler, A. W., Abel, O., Andersen, P. M., Fogh, I. & Silani, V. & 17 others, Chiò, A., Traynor, B. J., Melki, J., Meininger, V., Landers, J. E., McGuffin, P., Glass, J. D., Pall, H., Leigh, P. N., Hardy, J., Brown, R. H., Powell, J. F., Orrell, R. W., Morrison, K. E., Shaw, P. J., Shaw, C. E. & Al-Chalabi, A., Oct 2010, In: Lancet Neurology. 9, 10, p. 986-94 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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184 Citations (Scopus)

215 Downloads (Pure)

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

Mitchell, J., Paul, P., Chen, H.-J., Morris, A., Payling, M., Falchi, M., Habgood, J., Panoutsou, S., Winkler, S., Tisato, V., Hajitou, A., Smith, B., Vance, C., Shaw, C., Mazarakis, N. D. & de Belleroche, J., 20 Apr 2010, In: Proceedings of the National Academy of Sciences of the United States of America. 107, 16, p. 7556-61 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

217 Citations (Scopus)

Familial TDP proteinopathy with ALS presentation: characteristic clinical and pathological features

Troakes, C., Maekawa, S., Wijesekera, L., Rogelj, B., Smith, B., Vance, C., Hortobagyi, T., Arzberger, T., Kretzschmar, H., Leigh, N., Al-Chalabi, A., Shaw, C., King, A. & Al-Sarraj, S., 2010, In: Brain Pathology. 20, p. 33 - 33 1 p.

Research output: Contribution to journal › Meeting abstract

PATH46 Familial mutations in the RNA binding gene FUS result in cellular mislocalisation of the protein

Rogelj, B., Shaw, C. E., Vance, C. & Hortobagyi, T., 2010, In: Journal of Neurology, Neurosurgery and Psychiatry. 81, 11, p. E20 - E20

Research output: Contribution to journal › Meeting abstract

POD09 Using the chick embryo model system to study the neurotoxicity of TDP43

Tripathi, V., Guthrie, S., Shaw, C., Marinela, V., Al-chalabi, A., Vance, C. & Sreedharan, J., 2010, In: Journal of Neurology, Neurosurgery and Psychiatry. 81, 11, p. E44 - E44

Research output: Contribution to journal › Meeting abstract

2009

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

Smith, B., Bevan, S., Vance, C., Renwick, P., Wilkinson, P., Proukakis, C., Squitieri, F., Berardelli, A., Warner, T., Reid, E. & Shaw, C., May 2009, In: Clinical Genetics. 75, 5, p. 485-489 5 p., PMID:19459885.

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., Ganesalingam, J., Williams, K. L., Tripathi, V., Al-Saraj, S., Al-Chalabi, A., Leigh, P. N., Blair, I. P., Nicholson, G., de Belleroche, J. & Gallo, J.-M. & 2 others, Miller, C. C. & Shaw, C. E., 27 Feb 2009, In: Science. 323, 5918, p. 1208-11 4 p.

Research output: Contribution to journal › Article › peer-review

2177 Citations (Scopus)

Mutations in RNA processing protein FUS result in neurodegeneration with cytoplasmic inclusion and cause familial amyotrophic lateral sclerosis

Hortobagyi, T., Vance, C., Rogelj, B., de Vos, K., Troakes, C., Al-Sarraj, S. & Shaw, C., 2009, In: Acta Neuropathologica. 118, 3, p. 445-445 1 p.

Research output: Contribution to journal › Meeting abstract

2008

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

Blair, I. P., Vance, C., Durnall, J. C., Williams, K. L., Thoeng, A., Shaw, C. E. & Nicholson, G. A., Jul 2008, In: Journal of Neurology, Neurosurgery and Psychiatry. 79, 7, p. 849 - 850 2 p.

Research output: Contribution to journal › Letter › peer-review

7 Citations (Scopus)

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

Rutherford, N. J., Zhang, Y.-J., Baker, M., Gass, J. M., Finch, N. A., Xu, Y.-F., Stewart, H., Kelley, B. J., Kuntz, K., Crook, R. J. P., Sreedharan, J., Vance, C., Sorenson, E., Lippa, C., Bigio, E. H., Geschwind, D. H., Knopman, D. S., Mitsumoto, H., Petersen, R. C. & Cashman, N. R. & 11 others, Hutton, M., Shaw, C. E., Boylan, K. B., Boeve, B., Graff-Radford, N. R., Wszolek, Z. K., Caselli, R. J., Dickson, D. W., Mackenzie, I. R., Petrucelli, L. & Rademakers, R., Sept 2008, In: PL o S Genetics. 4, 9, e1000193.

Research output: Contribution to journal › Article › peer-review

396 Citations (Scopus)

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., Baralle, F., de Belleroche, J., Mitchell, J. D., Leigh, P. N., Al-Chalabi, A., Miller, C. C., Nicholson, G. & Shaw, C. E., 21 Mar 2008, In: Science. 319, 5870, p. 1668-1672 5 p.

Research output: Contribution to journal › Article › peer-review

2194 Citations (Scopus)

2006

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

Vance, C., Al-Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H. J., Kusters, B., Troost, D., Baas, F., de Jong, V. & Shaw, C. E., Apr 2006, In: Brain. 129, 4, p. 868 - 876 9 p.

Research output: Contribution to journal › Article › peer-review

341 Citations (Scopus)

2004

No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS

Broom, W. J., Parton, M. J., Vance, C., Russ, C., Andersen, P. M., Hansen, V., Leigh, P. N., Powell, J. F., Al-Chalabi, A. & Shaw, C. E., 28 Dec 2004, In: Neurology. 63, 12, p. 2419 - 2422 4 p.

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Caroline Vance

Research output

Search results