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Research Outputs

  1. 2017
  2. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

    Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mahmoudi, H., Touati, A., Abiri, M., Kajbafzadeh, A. M., Aristodemou, S., Liu, L., McGrath, J. A., Ertel, A., Londin, E., Kariminejad, A., Zeinali, S., Fortina, P. & Uitto, J., 11 Nov 2017, In : Matrix Biology.

    Research output: Contribution to journalArticle

  3. Caveolin-1 controls hyperresponsiveness to mechanical stimuli and fibrogenesis-associated RUNX2 activation in keloid fibroblasts

    Hsu, C-K., Lin, H-H., Harn, H. I-C., Ogawa, R., Wang, Y-K., Ho, Y-T., Chen, W-R., Lee, Y-C., Lee, J. Y-Y., Shieh, S-J., Cheng, C-M., McGrath, J. A. & Tang, M-J., 9 Sep 2017, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  4. 227 Patient pre-selection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Lwin, S. M., Gaucher, S., Titeux, M., Abdul-Wahab, A., Pironon, N., Miskinyte, S., GANIER, C., Duchatelet, S., McGrath, J. & Hovnanian, A., 8 Sep 2017, In : Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S231

    Research output: Contribution to journalArticle

  5. Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45

    Straussberg, R., Onoufriadis, A., Konen, O., Zouabi, Y., Cohen, L., Lee, J. Y. W., Hsu, C-K., Simpson, M. A. & McGrath, J. A., 8 Sep 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticle

  6. Amelexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: Potential for recessive dystrophic epidermolysis bullosa

    Atanasova, V., Jiang, Q., Prisco, M., Gruber, C., Piñón Hofbauer, J., Chen, M., Has, C., Leena, B-T., McGrath, J. A., Uitto, J. & South, A. P., 1 Sep 2017, In : Journal of Investigative Dermatology. 137, 9, p. 1842-1849

    Research output: Contribution to journalArticle

  7. The Flynn effect for verbal and visuospatial short-term and working memory: A cross-temporal meta-analysis

    Wongupparaj, P., Wongupparaj, R., Kumari, V. & Morris, R. G., Sep 2017, In : Intelligence. 64, p. 71-80 10 p.

    Research output: Contribution to journalArticle

  8. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

    Takeichi, T., Torrelo, A., Lee, J. Y. W., Ohno, Y., Lozano, M. L., Kihara, A., Liu, L., Yasuda, Y., Ishikawa, J., Murase, T., Rodrigo, A. B., Fernández-Crehuet, P., Toi, Y., Mellerio, J., Rivera, J., Vicente, V., Kelsell, D. P., Nishimura, Y., Okuno, Y., Kojima, D. & 6 others, Ogawa, Y., Sugiura, K., Simpson, M. A., McLean, W. H. I., Akiyama, M. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2344-2353

    Research output: Contribution to journalArticle

  9. Mnemonic function in small vessel disease and associations with white matter tract microstructure

    Metoki, A., Brookes, R. L., Zeestraten, E., Lawrence, A. J., Morris, R. G., Barrick, T. R., Markus, H. S. & Charlton, R. A., 24 Jul 2017, In : Neuropsychologia.

    Research output: Contribution to journalArticle

  10. Autoinflammatory keratinization diseases

    Akiyama, M., Takeichi, T., McGrath, J. A. & Sugiura, K., 28 Jun 2017, In : Journal of Allergy and Clinical Immunology. 3 p.

    Research output: Contribution to journalArticle

  11. PLACK syndrome resulting from a new homozygous insertion mutation in CAST

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C-K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J-P., 9 Jun 2017, In : Journal of Dermatological Science.

    Research output: Contribution to journalArticle

  12. Using Virtual Reality to investigate multitasking ability in individuals with frontal lobe lesions

    Denmark, T., Fish, J., Jansari, A., Tailor, J., Ashkan, K. & Morris, R., 8 Jun 2017, In : Neuropsychological Rehabilitation. p. 1-22 22 p.

    Research output: Contribution to journalArticle

  13. Dual requirements for WNT10A in proliferation and KLF4-mediated differentiation underlie ectodermal dysplasia

    Zu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., Levin, B., Mansfield, C., Douglas, J. E., Cowart, B. J., Tordoff, M., Liu, F., Zhu, X., Barlow, L. A. & 5 others, Rubin, A. I., McGrath, J. A., Morrisey, E. E., Chu, E. Y. & Millar, S. E., 7 Jun 2017, In : Nature Communications. 8

    Research output: Contribution to journalArticle

  14. A new clinical diagnostic matrix for epidermolysis bullosa

    McGrath, J. A., 5 Jun 2017, In : British Journal of Dermatology. 176, 6, p. 1442–1443 2 p.

    Research output: Contribution to journalArticle

  15. The influence of current mood state, number of previous affective episodes and predominant polarity on insight in bipolar disorder

    de Assis da Silva, R., Mograbi, D. C., Camelo, E. V. M., Peixoto, U., Santana, C. M. T., Landeira-Fernandez, J., Morris, R. G. & Cheniaux, E., 30 May 2017, In : International Journal of Psychiatry in Clinical Practice. p. 1-5 5 p.

    Research output: Contribution to journalArticle

  16. Structure and function of skin, hair and nails

    Lai-Cheong, J. E. & McGrath, J. A., 5 May 2017, In : Medicine.

    Research output: Contribution to journalArticle

  17. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

    Hsu, C. K., Romano, M. T., Nanda, A., Rashidghamat, E., Lee, J. Y. W., Huang, H. Y., Songsantiphap, C., Lee, J. Y. Y., Al-Ajmi, H., Betz, R. C., Simpson, M. A., McGrath, J. A. & Tziotzios, C., 1 May 2017, In : Journal of Investigative Dermatology. 137, 5, p. 1176-1179 4 p.

    Research output: Contribution to journalArticle

  18. Apathy, but not depression, is associated with executive dysfunction in cerebral small vessel disease

    Lohner, V., Brookes, R. L., Hollocks, M. J., Morris, R. & Markus, H. S., May 2017, In : PL o S One . 12, 5, e0176943.

    Research output: Contribution to journalArticle

  19. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

    Dinani, N., Ali, M., Liu, L., McGrath, J. & Mellerio, J., 16 Mar 2017, In : Clinical and Experimental Dermatology. 42, 3, p. 316-319 4 p.

    Research output: Contribution to journalArticle

  20. Material Specificity Drives Medial Temporal Lobe Familiarity But Not Hippocampal Recollection

    Kafkas, A., Migo, E. M., Morris, R. G., Kopelman, M. D., Montaldi, D. & Mayes, A. R., 1 Feb 2017, In : Hippocampus. 27, 2, p. 194-209 16 p.

    Research output: Contribution to journalArticle

  21. Questioning the Clinical Utility of Exome Sequencing in Developing Countries

    Fong, K., Bailey, C. V., Tuttle, P., Cunningham, B., McGrath, J. A. & Cho, R. J., 5 Jan 2017, In : Pediatric Dermatology. 34, 1, p. e32-e34

    Research output: Contribution to journalArticle

  22. Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations

    Takeichi, T., Sugiura, K., Nomura, T., Sakamoto, T., Ogawa, Y., Oiso, N., Futei, Y., Fujisaki, A., Koizumi, A., Aoyama, Y., Nakajima, K., Hatano, Y., Hayashi, K., Ishida-Yamamoto, A., Fujiwara, S., Sano, S., Iwatsuki, K., Kawada, A., Suga, Y., Shimizu, H. & 2 others, McGrath, J. & Akiyama, M., 1 Jan 2017, In : JAMA dermatology. 153, 1, p. 66-70 5 p.

    Research output: Contribution to journalArticle

  23. 2016
  24. Expression of positive emotions differs in illness and recovery in anorexia nervosa

    Dapelo, M. M., Hart, S., Hale, C., Morris, R. & Tchanturia, K., 30 Dec 2016, In : Psychiatry Research. 246, p. 48-51 4 p.

    Research output: Contribution to journalArticle

  25. Interaction effect of awareness and educational attainment on the benefits of multicomponent intervention for persons with mild Alzheimer's disease

    Contador, I., Fernández-Calvo, B., Ramos, F., Mograbi, D. C. & Morris, R. G., 24 Nov 2016, In : Archives of Clinical Neuropsychology. 31, 8, p. 1037-1042 6 p.

    Research output: Contribution to journalArticle

  26. Adult onset Rasmussen's encephalitis associated with reflex language induced seizures responsive to Rituximab therapy

    El Tawil, S., Morris, R., Mullatti, N., Nashef, L. & Rajakulendran, S., 1 Nov 2016, In : Seizure. 42, p. 60-62 3 p.

    Research output: Contribution to journalArticle

  27. Kindlin-1 Regulates Keratinocyte Electrotaxis

    Zhang, G., Gu, Y., Begum, R., Chen, H., Gao, X., McGrath, J. A., Parsons, M. & Song, B., 1 Nov 2016, In : Journal of Investigative Dermatology. 136, 11, p. 2229-2239 11 p.

    Research output: Contribution to journalArticle

  28. Brief Screening of Vascular Cognitive Impairment in Patients with Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Without Dementia

    Brookes, R. L., Hollocks, M. J., Tan, R. Y. Y., Morris, R. G. & Markus, H. S., 1 Oct 2016, In : Stroke. 47, 10, p. 2482-2487 6 p.

    Research output: Contribution to journalArticle

  29. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

    Takeichi, T., Liu, L., Abdul-Wahab, A., McMillan, J. R., Stone, K. L., Akiyama, M., Simpson, M. A., Parsons, M., Mellerio, J. E. & McGrath, J. A., 1 Oct 2016, In : Journal of Investigative Dermatology. 136, 10, p. 2095-2098 4 p.

    Research output: Contribution to journalArticle

  30. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

    Zhong, FL., Mamaï, O., Sborgi, L., Boussofara, L., Hopkins, R., Robinson, K., Szeverényi, I., Takeichi, T., Balaji, R., Lau, A., Tye, H., Roy, K., Bonnard, C., Ahl, PJ., Jones, LA., Baker, P., Lacina, L., Otsuka, A., Fournie, PR., Malecaze, F. & 14 others, Lane, E. B., Akiyama, M., Kabashima, K., Connolly, JE., Masters, SL., Soler, VJ., Omar, SS., McGrath, J. A., Nedelcu, R., Gribaa, M., Denguezli, M., Saad, A., Hiller, S. & Reversade, B., 22 Sep 2016, In : Cell. 167, 1, p. 187–202.e17

    Research output: Contribution to journalArticle

  31. Mood-congruent recollection and anosognosia in Alzheimer’s Disease

    Bertrand, E., Dourado, M. C. N., Laks, J., Morris, R. G., Landeira-Fernandez, J. & Mograbi, D. C., 13 Sep 2016, In : Cortex.

    Research output: Contribution to journalArticle

  32. Induced pluripotent stem cell differentiation and three-dimensional tissue formation attenuate clonal epigenetic differences in trichohyalin

    Petrova, A., Capalbo, A., Jacquet, L., Hazelwood-Smith, S., Dafou, D., Hobbs, C., Arno, M., Farcomeni, A., Devito, L., Badraiq, H., Simpson, M., Mcgrath, J. A., Di, W. L., Cheng, J. B., Mauro, T. M. & Ilic, D., 1 Sep 2016, In : STEM CELLS AND DEVELOPMENT. 25, 18, p. 1366-1375 10 p.

    Research output: Contribution to journalArticle

  33. Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

    Hsu, C-K., Liu, L., Can, P. K., Kocatürk, E., McMillan, J. R., Güngör, Ş., Hürdoğan, Ö., Sargan, A., Degirmentepe, E. N., Lee, J. Y. W., Simpson, M. A. & McGrath, J. A., 11 Aug 2016, In : Journal of Dermatological Science.

    Research output: Contribution to journalArticle

  34. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

    Takeichi, T., Nanda, A., Yang, H., Hsu, C., Lee, J., Al-ajmi, H., Akiyama, M., Simpson, M. A. & Mcgrath, J. A., 1 Jul 2016, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  35. Frontal fibrosing alopecia: reflections and hypotheses on etiology and pathogenesis

    Tziotzios, C., Stefanato, C. M., Fenton, D. A., Simpson, M. A. & McGrath, J. A., 20 May 2016, In : Experimental Dermatology.

    Research output: Contribution to journalArticle

  36. Forgetting in temporal lobe epilepsy: when does it become accelerated?

    Cassel, A., Morris, R., Koutroumanidis, M. & Kopelman, M. D., May 2016, In : Cortex. 78, p. 70–84

    Research output: Contribution to journalArticle

  37. Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti

    Guevara, B. E. K., Hsu, C-K., Liu, L., Feast, A., Alabado, K. L. P., Lacuesta, M. P. M., Lee, J. Y-Y. & McGrath, J. A., May 2016, In : The Australasian journal of dermatology. 57, 2, p. 150–153

    Research output: Contribution to journalArticle

  38. Incontinentia pigmenti in a father and daughter

    Rashidghamat, E., Hsu, C-K., Nanda, A., Liu, L., Al-Ajmi, H. & McGrath, J. A., 1 Apr 2016, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  39. Awareness of memory task impairment versus everyday memory difficulties in dementia

    Morris, R. G., Nelis, S. M., Martyr, A., Markova, I., Roth, I., Woods, R. T., Whitaker, C. J. & Clare, L., 1 Mar 2016, In : Journal Of Neuropsychology. 10, 1, p. 130-142 13 p.

    Research output: Contribution to journalArticle

  40. Mesenchymal stem cell therapy for recessive dystrophic epidermolysis bullosa: prospects and clinical progress

    Rashidghamat, E., Mellerio, J. E., Martinez, A. E. & McGrath, J. A., 19 Feb 2016, In : Expert opinion on orphan drugs. 4, 4, p. 343-345 3 p.

    Research output: Contribution to journalArticle

  41. Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

    Rashidghamat, E., Ozoemena, L., Liu, L., McGrath, J. A., Martinez, A. E. & Mellerio, J. E., Feb 2016, In : British Journal of Dermatology. 174, 2, p. 452–453

    Research output: Contribution to journalArticle

  42. Application of Diffusion Tensor Imaging Parameters to Detect Change in Longitudinal Studies in Cerebral Small Vessel Disease

    Zeestraten, E. A., Benjamin, P., Lambert, C., Lawrence, A. J., Williams, O. A., Morris, R., Barrick, T. R. & Markus, H. S., 25 Jan 2016, In : PL o S One . 11, 1, p. e0147836 e0147836.

    Research output: Contribution to journalArticle

  43. Assessing a Metacognitive Account of Associative Memory Impairments in Temporal Lobe Epilepsy

    Illman, N. A., Kemp, S., Souchay, C., Morris, R. G. & Moulin, C. J. A., 1 Jan 2016, In : Epilepsy Research and Treatment. 2016, 6746938.

    Research output: Contribution to journalArticle

  44. Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC

    Martins, V. L., Caley, M. P., Moore, K., Szentpetery, Z., Marsh, S. T., Murrell, D. F., Kim, M. H., Avari, M., McGrath, J. A., Cerio, R., Kivisaari, A., Kähäri, V. M., Hodivala-Dilke, K., Brennan, C. H., Chen, M., Marshall, J. F. & O'Toole, E. A., Jan 2016, In : Journal of the National Cancer Institute. 108, 1

    Research output: Contribution to journalArticle

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