King's College London

Research portal

Dr Elizabeth Wraige

  1. Making sense of missense variants in TTN-related congenital myopathies

    Rees, M., Nikoopour, R., Fukuzawa, A., Kho, A. L., Fernandez-Garcia, M., Wraige, E., Bodi, I., Deshpande, C., Özdemir, Ö., Daimagüler, H-S., Pfuhl, M., Holt, M., Brandmeier, B., Grover, S., Longman, C., Farrugia, M. E., Fluss, J., Matthews, E., Hanna, M., Muntoni, F. & 25 others, Sarkozy, A., Phadke, R., Quinlivan, R., Oates, E., Schröder, R., Thiel, C., Reimann, J., Voermans, N., Erasmus, C., Kamsteeg, E-J., Konersman, C., Grosmann, C., Mckee, S., Tirupathi, S., Moore, S. A., Wilichowski, E., Hobbiebrunken, E., Dekomien, G., Richard, I., van den Bergh, P., Domínguez-González, C., Cirak, S., Ferreiro, A., Jungbluth, H. & Gautel, M., 20 Dec 2020, (Accepted/In press) In: Acta Neuropathologica.

    Research output: Contribution to journalArticlepeer-review

  2. Seeking normality: Parents’ experiences of childhood stroke

    McKevitt, C., Topor, M., Panton, A., Mallick, A. A., Ganesan, V., Wraige, E. & Gordon, A. L., 16 Sep 2018, (Accepted/In press) In: Child: Care Health and Development.

    Research output: Contribution to journalArticlepeer-review

  3. Self-Reported Needs After Pediatric Stroke

    Gordon, A. L., Nguyen, L., Panton, A., Mallick, A. A., Ganesan, V., Wraige, E. & McKevitt, C. J., 18 Jun 2018, (E-pub ahead of print) In: European Journal of Paediatric Neurology.

    Research output: Contribution to journalArticlepeer-review

  4. An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

    Lopez, R. J., Byrne, S., Vukcevic, M., Sekulic-Jablanovic, M., Xu, L., Brink, M., Alamelu, J., Voermans, N., Snoeck, M., Clement, E., Muntoni, F., Zhou, H., Radunovic, A., Mohammed, S., Wraige, E., Zorzato, F., Treves, S. & Jungbluth, H., 5 Jul 2016, In: Science Signaling. 9, 435, p. 1-9 9 p., ra68.

    Research output: Contribution to journalArticlepeer-review

  5. Human 343delT HSPB5 Chaperone associated with Early-onset Skeletal Myopathy causes Defects in Protein Solubility

    Mitzelfelt, K. A., Limphong, P., Choi, M. J., Kondrat, F. D. L., Lai, S., Kolander, K. D., Kwok, W-M., Dai, Q., Grzybowski, M. N., Zhang, H., Taylor, G. M., Lui, Q., Thao, M. T., Hudson, J. A., Barresi, R., Bushby, K., Jungbluth, H., Wraige, E., Geurts, A. M., Benesch, J. L. P. & 4 others, Riedel, M., Christians, E. S., Minella, A. C. & Benjamin, I. J., 19 May 2016, (E-pub ahead of print) In: Journal of Biological Chemistry.

    Research output: Contribution to journalArticlepeer-review

  6. Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study

    Mallick, A. A., Ganesan, V., Kirkham, F. J., Fallon, P., Hedderly, T., McShane, T., Parker, A. P., Wassmer, E., Wraige, E., Amin, S., Edwards, H. B., Tilling, K. & O'Callaghan, F. J., Jan 2014, In: Lancet Neurology. 13, 1, p. 35-43 9 p.

    Research output: Contribution to journalArticlepeer-review

  7. Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy

    Heng, H. S., Lim, M., Absoud, M., Austin, C., Clarke, D., Wraige, E., Reid, C., Robb, S. A. & Jungbluth, H., Jan 2014, In: Neuromuscular Disorders. 24, 1, p. 25-30 6 p.

    Research output: Contribution to journalArticlepeer-review

  8. Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations

    Tan, S. V., Wraige, E., Lascelles, K. & Bostock, H., Oct 2013, In: Developmental Medicine and Child Neurology. 55, 10, p. 959-962 4 p.

    Research output: Contribution to journalEditorialpeer-review

  9. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

    Carss, K. J., Stevens, E., Foley, A. R., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., van Scherpenzeel, M., Moore, S. A., Messina, S., Bertini, E., Bönnemann, C. G., Abdenur, J. E., Grosmann, C. M., Kesari, A., Punetha, J., Quinlivan, R., Waddell, L. B., Young, H. K. & 17 others, Wraige, E., Yau, S., Brodd, L., Feng, L., Sewry, C., MacArthur, D. G., North, K. N., Hoffman, E., Stemple, D. L., Hurles, M. E., van Bokhoven, H., Campbell, K. P., Lefeber, D. J., Lin, Y-Y., Muntoni, F., UK10K Consortium & Metrustry, S., 11 Jul 2013, In: American Journal of Human Genetics. 93, 1, p. 29-41 13 p.

    Research output: Contribution to journalArticlepeer-review

  10. Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

    Dlamini, N., Josifova, D., Paine, S. M. L., Wraige, E., Pitt, M., Murphy, A. J., King, A., Buk, S., Smith, F., Abbs, S., Sewry, C., Jacques, T. S. & Jungbluth, H., May 2013, In: Neuromuscular Disorders. 23, 5, p. 391-398 8 p.

    Research output: Contribution to journalArticlepeer-review

  11. Surgery for scoliosis in Duchenne muscular dystrophy

    Cheuk, D. K. L., Wong, V., Wraige, E., Baxter, P. & Cole, A., 2013, In: Cochrane Database of Systematic Reviews. 2, 40 p., CD005375.

    Research output: Contribution to journalLiterature reviewpeer-review

  12. Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy

    Heng, H. S., Tang, S. S., Goyal, S., Wraige, E. A. & Lim, M., Feb 2012, In: Developmental Medicine and Child Neurology. 54, 2, p. 183-186 4 p.

    Research output: Contribution to journalArticlepeer-review

  13. Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

    Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M-F., Chassaing, N., Roche, O., Feenstra, I., Loechner, K., Deshpande, C., Garber, S. J., Chikarmane, R., Steinmann, B., Shahinyan, T., Martorell, L. & 11 others, Davies, J., Smith, W. E., Kahler, S. G., McCulloch, M., Wraige, E., Loidi, L., Hoehne, W., Martin, L., Hadj-Rabia, S., Terkeltaub, R. & Rutsch, F., 13 Jan 2012, In: American Journal of Human Genetics. 90, 1, p. 25-39 15 p.

    Research output: Contribution to journalArticlepeer-review

  14. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

    Kurian, M. A., Li, Y., Zhen, J., Meyer, E., Hai, N., Christen, H-J., Hoffmann, G. F., Jardine, P., von Moers, A., Mordekar, S. R., O'Callaghan, F., Wassmer, E., Wraige, E., Dietrich, C., Lewis, T., Hyland, K., Heales, S. J. R., Sanger, T., Gissen, P., Assmann, B. E. & 2 others, Reith, M. E. A. & Maher, E. R., Jan 2011, In: Lancet Neurology. 10, 1, p. 54-62 9 p.

    Research output: Contribution to journalArticlepeer-review

  15. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

    Forrest, K. M. L., Al-Sarraj, S., Sewry, C., Buk, S., Tan, S. V., Pitt, M., Durward, A., McDougall, M., Irving, M., Hanna, M. G., Matthews, E., Sarkozyi, A., Hudson, J., Barresi, R., Bushby, K., Jungbluth, H. & Wraige, E., Jan 2011, In: Neuromuscular Disorders. 21, 1, p. 37 - 40 4 p.

    Research output: Contribution to journalArticlepeer-review

  16. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

    Forrest, K., Mellerio, J. E., Robb, S., Dopping-Hepenstal, P. J. C., McGrath, J. A., Liu, L., Buk, S. J. A., Al-Sarraj, S., Wraige, E. & Jungbluth, H., Nov 2010, In: Neuromuscular Disorders. 20, 11, p. 709 - 711 3 p.

    Research output: Contribution to journalArticlepeer-review

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