1. 2017
  2. Published

    Identifying the Molecular Mechanism of the MCT (Ketogenic) Diet

    Walker, M. & Williams, R. 5 Jan 2017 Ketogenic Diet and Metabolic Therapies : Expanded Roles in Health and Disease. Masino, S. (ed.). Oxford University Press

    Research output: Chapter in Book/Report/Conference proceedingChapter

  3. 2016
  4. Published
  5. Published

    Nutrition for the aging brain: towards evidence for an optimal diet

    Robles, M. C., Williams, R., Robles, M. C. & Ramirez, M. 14 Oct 2016 In : Ageing research reviews.

    Research output: Contribution to journalLiterature review

  6. Published
  7. Published

    Democratizing neurorehabilitation: how accessible are low-cost mobile-gaming technologies for self-rehabilitation of arm disability in stroke?

    Rinne, P., Mace, M., Nakornchai, T., Zimmerman, K., Fayer, S., Sharma, P., Liardon, J-L., Burdet, E. & Bentley, P. 5 Oct 2016 In : PLoS One.

    Research output: Contribution to journalArticle

  8. Published

    Advances in gene therapy for muscular dystrophies

    Abdul-Razak, H., Malerba, A. & Dickson, G. 18 Aug 2016 In : F1000Research. 5, p. 1-7 7 p.

    Research output: Contribution to journalArticle

  9. Published

    Strain-dependent and distinctive T-cell responses to HIV antigens following immunisation of mice with differing chimpanzee adenovirus vaccine vectors

    Herath, S., Le Heron, A., Colloca, S., Patterson, S., Tatoud, R., Weber, J. & Dickson, G. 17 Aug 2016 In : Vaccine. 34, 37, p. 4378-85 8 p.

    Research output: Contribution to journalArticle

  10. Forthcoming

    Meta-analysis of therapeutic hypothermia for traumatic brain injury in adult and paediatric patients

    Crompton, E., Lubormirova , I., Cotlarciuc, I., Han, T. & Sharma, P. 14 Aug 2016 In : Critical Care Medicine.

    Research output: Contribution to journalArticle

  11. Published

    Cytokine genes as potential biomarkers for muscle weakness in OPMD

    Riaz, M., Raz, Y., van der Slujis, B., Dickson, G., van Engelen, B., Vissing, J. & Raz, V. 9 Aug 2016 In : Human Molecular Genetics. p. 1-23 23 p.

    Research output: Contribution to journalArticle

  12. Published

    Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing

    Klein, P., Oloko, M., Roth, F., Montel, V., Malerba, A., Jarmin, S., Gidaro, T., Popplewell, L., Perie, S., Lacau St Guily, J., de la Grange, P., Antoniou, M. N., Dickson, G., Butler-Browne, G., Bastide, B., Mouly, V. & Trollet, C. 9 Aug 2016 In : Nucleic Acids Research.

    Research output: Contribution to journalArticle

  13. Published

    Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles

    Peccate, C., Mollard, A., Le Hir, M., Julien, L., McClorey, G., Jarmin, S., Le Heron, A., Dickson, G., Benkhelifa-Ziyyat, S., Piétri-Rouxel, F., Wood, M. J., Voit, T. & Lorain, S. 4 Jul 2016 In : Human Molecular Genetics. p. 1-25 25 p.

    Research output: Contribution to journalArticle

  14. Published

    Intrastriatal delivery of integration-deficient lentiviral vectors in a rat model of Parkinson's disease

    Lu-Nguyen, N., Broadstock, M. & Yáñez-Muñoz, R. J. 18 Jun 2016 In : Methods in Molecular Biology. 1448, p. 175-184 10 p.

    Research output: Contribution to journalArticle

  15. Published

    Employing Dictyostelium as an Advantageous 3Rs Model for Pharmacogenetic Research

    Otto, G., Cocorocchio, M., Munoz, L., Tyson, R., Bretschneider, T. & Williams, R. 7 Jun 2016 Methods in Molecular Biology: Chemotaxis. Springer New York: Springer, Vol. 1407, p. 123-130 8 p. (Methods in Molecular Biology; vol. 1407)

    Research output: Chapter in Book/Report/Conference proceedingChapter

  16. Published

    Non-Catalytic Roles of Presenilin throughout evolution

    Otto, G., Sharma, D. & Williams, R. 7 Jun 2016 In : Journal of Alzheimer's Disease. 52, 4, p. 177-1187 11 p.

    Research output: Contribution to journalLiterature review

  17. Published

    Non-invasive early detection and stratification of breast cancer

    Alsaidi, Y., Milnthorpe, A. & Soloviev, M. 28 May 2016

    Research output: Contribution to conferencePoster

  18. Published

    Alzheimer disease research in the 21st century: past and current failures, new perspectives and funding priorities: Funding priorities in Alzheimer disease research

    Pistollato, F., Ohayon, E., Lam, A., Langley, G., Novak, T., Pamies, D., Perry, G., Trushina, E., Williams, R., Roher, A., hartung, T., Merkley, R. & Chandrasekera, C. 4 May 2016 In : Oncotarget. p. 1-18 18 p.

    Research output: Contribution to journalLiterature review

  19. Published

    The inositol-3-phosphate synthase biosynthetic enzyme has distinct catalytic and metabolic roles

    Frej, A., Clark, J., Le Roy, C., Lilla, S., Thomason, P., Otto, G., Churchill, G., Insall, R., Claus, S., Hawkins, P., Stephens, L. & Williams, R. 1 May 2016 In : Molecular and Cellular Biology. 36, 10, p. 1464-1479 16 p.

    Research output: Contribution to journalArticle

  20. Published
  21. Published

    Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration

    Cotlarciuc, I. , Sharma, P. & 48 others Malik, R., Traylor, M., Pulit, S. L., Bevan, S., Hopewell, J. C., Holliday, E. G., Zhao, W., Abrantes, P., Amouyel, P., Attia, J. R., Battey, T. W. K., Berger, K., Boncoraglio, G. B., Chauhan, G., Cheng, Y-C., Chen, W-M., Clarke, R., Debette, S., Falcone, G. J., Ferro, J. M., Gamble, D. M., Ilinca, A., Kittner, S. J., Kourkoulis, C. E., Lemmens, R., Levi, C. R., Lichtner, P., Lindgren, A., Liu, J., Meschia, J. F., Mitchell, B. D., Oliveira, S. A., Pera, J., Reiner, A. P., Rothwell, P. M., Slowik, A., Sudlow, C. L. M., Tatlisumak, T., Thijs, V., Vicente, A. M., Woo, D., Seshadri, S., Saleheen, D., Rosand, J., Markus, H. S., Worrall, B. B., Dichgans, M. & ISGC Analysis Group 29 Mar 2016 In : Neurology. 86, 13, p. 1217-26 10 p.

    Research output: Contribution to journalArticle

  22. Published

    Current Progress in Therapeutic Gene Editing for Monogenic Diseases

    Prakash, V., Moore, M. & Yáñez-Muñoz, R. J. Mar 2016 In : Molecular Therapy. 24, 3, p. 465-474 10 p.

    Research output: Contribution to journalArticle

  23. Forthcoming

    FOXF2, a novel risk locus for stroke and small artery disease: a genome-wide association study

    Sharma, P. & The Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, the Stroke Genetics Network (SiGN), and the International Stroke Genetics Consortium (ISGC)† 26 Feb 2016 In : Lancet Neurology.

    Research output: Contribution to journalArticle

  24. Published

    Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study

    Cheng, Y-C. , Sharma, P. & 55 others Keenan, T., Zhao, W., Rasheed, A., Ho, W. K., Malik, R., Felix, J. F., Young, R., Shah, N., Samuel, M., Sheikh, N., Mucksavage, M. L., Shah, O., Li, J., Morley, M., Laser, A., Mallick, N. H., Zaman, K. S., Ishaq, M., Rasheed, S. Z., Memon, F-U-R., Ahmed, F., Hanif, B., Lakhani, M. S., Fahim, M., Ishaq, M., Shardha, N. K., Ahmed, N., Mahmood, K., Iqbal, W., Akhtar, S., Raheel, R., O'Donnell, C. J., Hengstenberg, C., März, W., Kathiresan, S., Samani, N., Goel, A., Hopewell, J. C., Chambers, J., Yang, Q., Rosand, J., Boncoraglio, G. B., Kazmi, S. U., Hakonarson, H., Köttgen, A., Kalogeropoulos, A., Frossard, P., Kamal, A., Dichgans, M., Cappola, T., Reilly, M. P., Danesh, J., Rader, D. J., Voight, B. F. & Saleheen, D. 2 Feb 2016 In : Journal of the American College of Cardiology. 67, 4, p. 407-16 10 p.

    Research output: Contribution to journalArticle

  25. Published

    An in vitro model for synaptic loss in neurodegenerative diseases suggests a neuroprotective role for valproic acid via inhibition of cPLA2 dependent signalling

    Williams, R. & Bate, C. 1 Feb 2016 In : Neuropharmacology. 101, p. 566–575 20 p.

    Research output: Contribution to journalArticle

  26. Published

    Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study

    NINDS Stroke Genetics Network (SiGN) & Sharma, P. 1 Feb 2016 In : Lancet Neurology. 15, 2, p. 174–184 11 p.

    Research output: Contribution to journalArticle

  27. Published

    Quantifying the risk of heart disease following acute ischaemic stroke: a meta-analysis of over 50,000 subjects

    Gunnoo, T., Hasan, N., Saleem Khan, M., Slark, J., Bentley, P. & Sharma, P. 20 Jan 2016 In : BMJ Open.

    Research output: Contribution to journalArticle

  28. E-pub ahead of print

    Antisense targeting of 3'end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for Facioscapulohumeral Dystrophy: a new gene silencing approach

    Marsollier, A-C., Ciszewski, L., Mariot, V., Popplewell, L., Voit, T., Dickson, G. & Dumonceaux, J. 19 Jan 2016 In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  29. E-pub ahead of print

    Genome-wide association analysis of young onset stroke identifies a locus on chromosome 10q25 near HABP2

    Sharma, P. & 62 others Cheng, Y-C., Stanne, T. M., Giese, A-K., Ho, W. K., Traylor, M., Amouyel, P., Holliday, E. G., Malik, R., Xu, H., Kittner, S. J., Cole, J. W., O’Connell, J. R., Danesh, J., Rasheed, A., Zhao, W., Engelter, S., Grond-Ginsbach, C., Kamatani, Y., Lathrop, M., Leys, D., Thijs, V., Metso, T. M., Tatlisumak, T., Pezzini, A., Parati, E. A., Norrving, B., Bevan, S., Rothwell, P. M., Sudlow, C., Slowik, A., Lindgren, A., Walters, M. R., Jannes, . J., Shen, J., Crosslin, D., Doheny, K., Laurie, C. C., Kanse, S. M., Bis, J. C., Fornage, M., Mosley, T. H., Hopewell, J. C., Strauch, K., Müller-Nurasyid, M., Gieger, C., Waldenberger, M., Peters, A., Meisinger, C., Ikram, M. A., Longstreth, W. T., Meschia, J. F., Seshadri, S., Worrall, B., Jern, C., Levi, C., Dichgans, M., Boncoraglio, G. B., Markus, H. S., Debette, S., Rolfs, A., Saleheen, D. & Mitchell, B. D. 5 Jan 2016 In : Stroke. p. 307-316 10 p.

    Research output: Contribution to journalArticle

  30. Published
  31. 2015
  32. E-pub ahead of print

    Bitter tastant responses in the amoeba Dictyostelium correlate with rat and human taste assays

    Cocorocchio, M., Ives, R., Clapham, D., Andrews, P. & Williams, R. 22 Dec 2015 In : ALTEX. 4

    Research output: Contribution to journalArticle

  33. Published

    piggyBac transposons expressing full-length human dystrophin enable genetic correction of dystrophic mesoangioblasts

    Loperfido, M., Jarmin, S., Dastidar, S., Di Matteo, M., Perini, I., Moore, M., Nair, N., Samara-Kuko, E., Athanasopoulos, T., Tedesco, F. S., Dickson, G., Sampaolesi, M., VandenDriessche, T. & Chuah, M. K. 17 Dec 2015 In : Nucleic Acids Research. p. 1-17 17 p.

    Research output: Contribution to journalArticle

  34. Published

    Analysis of T cell responses to chimpanzee adenovirus vectors encoding HIV gag-pol-nef antigen

    Herath, S., Le Heron, A., Colloca, S., Bergin, P., Patterson, S., Weber, J., Tatoud, R. & Dickson, G. 15 Dec 2015 In : Vaccine. 33, 51, p. 7283–7289 7 p.

    Research output: Contribution to journalArticle

  35. Published
  36. E-pub ahead of print

    Seizure control by decanoic acid through direct AMPA receptor inhibition

    Chang, P-S., Augustin, K., Boddum, K., Williams, S., Sun, M., Terschak, J., Chen, P., Walker, M. & Williams, R. 25 Nov 2015 In : Brain. p. 1-13 13 p.

    Research output: Contribution to journalArticle

  37. Published

    Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells

    Massouridès, E., Polentes, J., Mangeot, P-E., Mournetas, V., Nectoux, J., Deburgrave, N., Nusbaum, P., Leturcq, F., Popplewell, L., Dickson, G., Wein, N., Flanigan, K. M., Peschanski, M., Chelly, J. & Pinset, C. 14 Nov 2015 In : Skeletal Muscle. 5, 40, p. 40

    Research output: Contribution to journalArticle

  38. Published
  39. E-pub ahead of print

    Estimating weight of acute stroke patients when dosing for thrombolysis

    Barrow , T., Khan , M. S., Halse , O., Bentley , P. & Sharma, P. 10 Nov 2015 In : Stroke. p. 228-231 4 p.

    Research output: Contribution to journalArticle

  40. Published

    Adeno-Associated Virus (AAV) Mediated Dystrophin Gene Transfer Studies and Exon Skipping Strategies for Duchenne Muscular Dystrophy (DMD)

    Kawecka, K., Theodoulides, M., Hasoglu, Y., Jarmin, S., Kymalainen, H., Le-Heron, A., Popplewell, L., Malerba, A., Dickson, G. & Athanasopoulos, T. 1 Aug 2015 In : Current Gene Therapy. 15, 4, p. 395-415 21 p.

    Research output: Contribution to journalArticle

  41. Published

    New experimental therapies for status epilepticus in pre-clinical development

    Walker, M. & Williams, R. 1 Aug 2015 In : Epilepsy and Behaviour. 49, p. 290–293 4 p.

    Research output: Contribution to journalLiterature review

  42. Published

    Quality Control of Expression Profiling Data

    Soloviev, M. & Milnthorpe, A. 22 Jul 2015 In : Journal of Proteomics & Bioinformatics. 8, 7, p. 176-187 12 p.

    Research output: Contribution to journalArticle

  43. Published

    Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

    Boza-Morán, M. G., Martínez-Hernández, R., Bernal, S., Wanisch, K., Also-Rallo, E., le Heron, A., Alías, L., Denis, C., Girard, M., Yee, J-K., Tizzano, E. F. & Yáñez-Muñoz, R. J. 26 Jun 2015 In : Scientific reports. 5, p. 1-17 17 p., 11696

    Research output: Contribution to journalArticle

  44. Published

    Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

    Athanasopoulos, T. , Dickson, G. & 19 others Rau, F., Lainé, J., Ramanoudjame, L., Ferry, A., Arandel, L., Delalande, O., Jollet, A., Dingli, F., Lee, K-Y., Peccate, C., Lorain, S., Kabashi, E., Koo, T., Loew, D., Swanson, M. S., Le Rumeur, E., Allamand, V., Marie, J. & Furling, D. 28 May 2015 In : Nature Communications. 6, 7205

    Research output: Contribution to journalArticle

  45. Published

    Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants

    Sharma, P. & 53 others Malik, R., Freilinger, T., Winsvold, B. S., Anttila, V., Vander Heiden, J., Traylor, M., de Vries, B., Holliday, E. G., Terwindt, G. M., Sturm, J., Bis, J. C., Hopewell, J. C., Ferrari, M. D., Rannikmae, K., Wessman, M., Kallela, M., Kubisch, C., Fornage, M., Meschia, J. F., Lehtimäki, T., Sudlow, C., Clarke, R., Chasman, D. I., Mitchell, B. D., Maguire, J., Kaprio, J., Farrall, M., Raitakari, O. T., Kurth, T., Ikram, M. A., Reiner, A. P., Longstreth, W. T., Rothwell, P. M., Strachan, D. P., Seshadri, S., Quaye, L., Cherkas, L., Schürks, M., Rosand, J., Ligthart, L., Boncoraglio, G. B., Davey Smith, G., van Duijn, C. M., Stefansson, K., Worrall, B. B., Nyholt, D. R., Markus, H. S., van den Maagdenberg, A. M. J. M., Cotsapas, C., Zwart, J. A., Palotie, A., Dichgans, M. & International Headache Genetics Consortium 26 May 2015 In : Neurology. 84, 21, p. 2132-45 14 p.

    Research output: Contribution to journalArticle

  46. Published

    Progress on gene therapy, cell therapy and pharmacological strategies towards the treatment of Oculopharyngeal Muscular Dystrophy

    Harish, P., Malerba, A., Dickson, G. & Bachtarzi, H. 19 May 2015 In : Human Gene Therapy. 26, 5, p. 286-292 7 p.

    Research output: Contribution to journalArticle

  47. Published

    Combination antisense treatment for destructive exon skipping of myostatin and open reading frame rescue of dystrophin in neonatal mdx mice

    Lu-Nguyen, N., Jarmin, S. A., Saleh, A. F., Popplewell, L., Gait, M. J. & Dickson, G. 11 May 2015 In : Molecular Therapy. 23, 8, p. 1341-1348 8 p.

    Research output: Contribution to journalArticle

  48. Published

    The genetics of iscahemic stroke

    Yadav, S. & Sharma, P. 15 Apr 2015 In : Advances in Clinical Neuroscience and Rehabilitation. 15, 1, p. 6-12 7 p.

    Research output: Contribution to journalArticle

  49. Published

    Antiplatelet treatment compared with anticoagulation treatment for cervical artery dissection (CADISS): a randomised trial

    CADISS trial investigators Apr 2015 In : Lancet Neurology. 14, 4, p. 361-367 7 p.

    Research output: Contribution to journalArticle

  50. Published

    Mitochondrial dysfunction reveals the role of mRNA poly(a) tail regulation in oculopharyngeal muscular dystrophy pathogenesis

    Chartier, A., Klein, P., Pierson, S., Barbezier, N., Gidaro, T., Casas, F., Carberry, S., Dowling, P., Maynadier, L., Bellec, M., Oloko, M., Jardel, C., Moritz, B., Dickson, G., Mouly, V., Ohlendieck, K., Butler-Browne, G., Trollet, C. & Simonelig, M. 27 Mar 2015 In : PLoS genetics. 11, 3, p. e1005092

    Research output: Contribution to journalArticle

  51. Published

    Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

    Sharma, P. & 52 others Rannikmäe, K., Davies, G., Thomson, P. A., Bevan, S., Devan, W. J., Falcone, G. J., Traylor, M., Anderson, C. D., Battey, T. W. K., Radmanesh, F., Deka, R., Woo, J. G., Martin, L. J., Jimenez-Conde, J., Selim, M., Brown, D. L., Silliman, S. L., Kidwell, C. S., Montaner, J., Langefeld, C. D., Slowik, A., Hansen, B. M., Lindgren, A. G., Meschia, J. F., Fornage, M., Bis, J. C., Debette, S., Ikram, M. A., Longstreth, W. T., Schmidt, R., Zhang, C. R., Yang, Q., Kittner, S. J., Mitchell, B. D., Holliday, E. G., Levi, C. R., Attia, J., Rothwell, P. M., Poole, D. L., Boncoraglio, G. B., Psaty, B. M., Malik, R., Rost, N., Worrall, B. B., Dichgans, M., Van Agtmael, T., Woo, D., Markus, H. S., Seshadri, S., Rosand, J., Sudlow, C. L. M. & METASTROKE Consortium, the CHARGE WMH Group, the ISGC ICH GWAS Study Collaboration, the WMH in Ischemic Stroke GWAS Study Collaboration, and the International Stroke Genetics Consortium 3 Mar 2015 In : Neurology. 84, 9, p. 918-926 9 p.

    Research output: Contribution to journalArticle

  52. Published

    Genetic overlap between diagnostic subtypes of ischemic stroke

    Cotlarciuc, I. , Sharma, P. & 39 others Holliday, E. G., Traylor, M., Malik, R., Bevan, S., Falcone, G., Hopewell, J. C., Cheng, Y-C., Bis, J. C., Boerwinkle, E., Boncoraglio, G. B., Clarke, R., Cole, J. W., Fornage, M., Furie, K. L., Ikram, M. A., Jannes, J., Kittner, S. J., Lincz, L. F., Maguire, J. M., Meschia, J. F., Mosley, T. H., Nalls, M. A., Oldmeadow, C., Parati, E. A., Psaty, B. M., Rothwell, P. M., Seshadri, S., Scott, R. J., Sudlow, C., Wiggins, K. L., Worrall, B. B., Rosand, J., Mitchell, B. D., Dichgans, M., Markus, H. S., Levi, C., Attia, J., Wray, N. R. & Australian Stroke Genetics Collaborative, the Wellcome Trust Case Control Consortium 2, and the International Stroke Genetics Consortium Mar 2015 In : Stroke; a journal of cerebral circulation. 46, 3, p. 615-9 5 p.

    Research output: Contribution to journalArticle

  53. Published

    Enhanced efficacy of the CDNF/MANF family by combined intranigral overexpression in the 6-OHDA rat model of Parkinson's disease

    Cordero-Llana, Ó., Houghton, B. C., Rinaldi, F., Taylor, H., Yáñez-Muñoz, R. J., Uney, J. B., Wong, L-F. & Caldwell, M. A. 1 Feb 2015 In : Molecular Therapy. 23, 2, p. 244-54 11 p.

    Research output: Contribution to journalArticle

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