Appleton RE - Search Results

1

A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.

Helliwell TR, Ellis JM, Mountford RC, Appleton RE, Morris GE. Helliwell TR, et al. Among authors: appleton re. Am J Hum Genet. 1992 Mar;50(3):508-14. Am J Hum Genet. 1992. PMID: 1539591 Free PMC article.

2

Myotubular myopathy: morphological, immunohistochemical and clinical variation.

Helliwell TR, Ellis IH, Appleton RE. Helliwell TR, et al. Among authors: appleton re. Neuromuscul Disord. 1998 May;8(3-4):152-61. doi: 10.1016/s0960-8966(98)00010-8. Neuromuscul Disord. 1998. PMID: 9631395

3

Dermatomyositis and Whipple's disease.

Helliwell TR, Appleton RE, Mapstone NC, Davidson J, Walsh KP. Helliwell TR, et al. Among authors: appleton re. Neuromuscul Disord. 2000 Jan;10(1):46-51. doi: 10.1016/s0960-8966(99)00054-1. Neuromuscul Disord. 2000. PMID: 10677863

4

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.

Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsöld R, Helliwell TR, Appleton R, et al. Voit T, et al. Neuropediatrics. 1995 Jun;26(3):148-55. doi: 10.1055/s-2007-979745. Neuropediatrics. 1995. PMID: 7477753

5

Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency.

Appleton R, Riordan A, Tedman B, MacKenzie J, Helliwell T. Appleton R, et al. Dev Med Child Neurol. 1994 Jun;36(6):547-53. doi: 10.1111/j.1469-8749.1994.tb11886.x. Dev Med Child Neurol. 1994. PMID: 8005367

6

Identification of three novel frameshift mutations in patients with Friedreich's ataxia.

Pook MA, Al-Mahdawi SA, Thomas NH, Appleton R, Norman A, Mountford R, Chamberlain S. Pook MA, et al. J Med Genet. 2000 Nov;37(11):E38. doi: 10.1136/jmg.37.11.e38. J Med Genet. 2000. PMID: 11073547 Free PMC article. No abstract available.

7

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG. Nowak KJ, et al. Among authors: appleton re. Ann Neurol. 2007 Feb;61(2):175-84. doi: 10.1002/ana.21035. Ann Neurol. 2007. PMID: 17187373

8

Head circumference and intellectual performance of patients with Duchenne muscular dystrophy.

Appleton RE, Bushby K, Gardner-Medwin D, Welch J, Kelly PJ. Appleton RE, et al. Dev Med Child Neurol. 1991 Oct;33(10):884-90. doi: 10.1111/j.1469-8749.1991.tb14797.x. Dev Med Child Neurol. 1991. PMID: 1743411

9

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.

Nicolaides P, Appleton RE, Fryer A. Nicolaides P, et al. Among authors: appleton re. J Med Genet. 1996 May;33(5):419-21. doi: 10.1136/jmg.33.5.419. J Med Genet. 1996. PMID: 8733056 Free PMC article.

10

A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome.

McCann E, Fryer AE, Newman W, Appleton RE, Kohlhase J. McCann E, et al. Among authors: appleton re. Am J Med Genet A. 2005 Dec 1;139A(2):123-6. doi: 10.1002/ajmg.a.30962. Am J Med Genet A. 2005. PMID: 16278891

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