Elizabeth Wraige

2022

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy

The UK Northstar Clinical Network, 4 Feb 2022, In: Developmental Medicine and Child Neurology. 64, 8, p. 979-988 10 p.

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

Open Access

19 Citations (Scopus)

2020

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 journal › Article › peer-review

2018

Seeking normality: Parents’ experiences of childhood stroke

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

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

Open Access

File

15 Citations (Scopus)

457 Downloads (Pure)

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 journal › Article › peer-review

Open Access

File

7 Citations (Scopus)

283 Downloads (Pure)

2016

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 journal › Article › peer-review

Open Access

File

34 Citations (Scopus)

177 Downloads (Pure)

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 journal › Article › peer-review

Open Access

File

15 Citations (Scopus)

171 Downloads (Pure)

2014

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 journal › Article › peer-review

291 Citations (Scopus)

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 journal › Article › peer-review

29 Citations (Scopus)

2013

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 journal › Article › peer-review

47 Citations (Scopus)

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 journal › Article › peer-review

189 Citations (Scopus)

2012

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 journal › Article › peer-review

Open Access

6 Citations (Scopus)

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 journal › Article › peer-review

Open Access

274 Citations (Scopus)

2011

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 journal › Article › peer-review

Open Access

156 Citations (Scopus)

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 journal › Article › peer-review

56 Citations (Scopus)

2010

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 journal › Article › peer-review

44 Citations (Scopus)

Elizabeth Wraige

Research output

Search results