Bushby KM - Search Results

1

A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.

Chinnery PF, Johnson MA, Walls TJ, Gibson GJ, Fawcett PR, Jamieson S, Fulthorpe JJ, Cullen M, Hudgson P, Bushby KM. Chinnery PF, et al. Among authors: bushby km. Ann Neurol. 2001 Apr;49(4):443-52. Ann Neurol. 2001. PMID: 11310621

2

Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.

Bushby KM, Goodship JA, Nicholson LV, Johnson MA, Haggerty ID, Gardner-Medwin D. Bushby KM, et al. Neuromuscul Disord. 1993 Jan;3(1):57-64. doi: 10.1016/0960-8966(93)90042-i. Neuromuscul Disord. 1993. PMID: 8329890

3

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.

Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, Harris JB, Bhattacharya SS. Bushby KM, et al. J Neurol. 1993 Feb;240(2):105-12. doi: 10.1007/BF00858726. J Neurol. 1993. PMID: 8437017

4

Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports.

Bushby KM, Pollitt C, Johnson MA, Rogers MT, Chinnery PF. Bushby KM, et al. Neuromuscul Disord. 1998 Dec;8(8):574-9. doi: 10.1016/s0960-8966(98)00088-1. Neuromuscul Disord. 1998. PMID: 10093064

5

Dysferlin is a plasma membrane protein and is expressed early in human development.

Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KM. Anderson LV, et al. Among authors: bushby km. Hum Mol Genet. 1999 May;8(5):855-61. doi: 10.1093/hmg/8.5.855. Hum Mol Genet. 1999. PMID: 10196375

6

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.

Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KM. Pogue R, et al. Among authors: bushby km. Neuromuscul Disord. 2001 Jan;11(1):80-7. doi: 10.1016/s0960-8966(00)00154-1. Neuromuscul Disord. 2001. PMID: 11166169

7

Dystrophin expression in Duchenne patients with "in-frame" gene deletions.

Nicholson LV, Bushby KM, Johnson MA, Gardner-Medwin D, Ginjaar IB. Nicholson LV, et al. Among authors: bushby km. Neuropediatrics. 1993 Apr;24(2):93-7. doi: 10.1055/s-2008-1071521. Neuropediatrics. 1993. PMID: 8327067

8

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

Nicholson LV, Johnson MA, Bushby KM, Gardner-Medwin D, Curtis A, Ginjaar IB, den Dunnen JT, Welch JL, Butler TJ, Bakker E, et al. Nicholson LV, et al. Among authors: bushby km. J Med Genet. 1993 Sep;30(9):728-36. doi: 10.1136/jmg.30.9.728. J Med Genet. 1993. PMID: 8411067 Free PMC article.

9

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.

Nicholson LV, Johnson MA, Bushby KM, Gardner-Medwin D, Curtis A, Ginjaar IB, den Dunnen JT, Welch JL, Butler TJ, Bakker E, et al. Nicholson LV, et al. Among authors: bushby km. J Med Genet. 1993 Sep;30(9):745-51. doi: 10.1136/jmg.30.9.745. J Med Genet. 1993. PMID: 8411069 Free PMC article.

10

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.

Nicholson LV, Johnson MA, Bushby KM, Gardner-Medwin D. Nicholson LV, et al. Among authors: bushby km. Arch Dis Child. 1993 May;68(5):632-6. doi: 10.1136/adc.68.5.632. Arch Dis Child. 1993. PMID: 8323331 Free PMC article.

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