Johnson MA - 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: johnson ma. Ann Neurol. 2001 Apr;49(4):443-52. Ann Neurol. 2001. PMID: 11310621

2

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. Among authors: johnson ma. J Neurol. 1993 Feb;240(2):105-12. doi: 10.1007/BF00858726. J Neurol. 1993. PMID: 8437017

3

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.

Chinnery PF, Johnson MA, Taylor RW, Lightowlers RN, Turnbull DM. Chinnery PF, et al. Among authors: johnson ma. Ann Neurol. 1997 Mar;41(3):408-10. doi: 10.1002/ana.410410319. Ann Neurol. 1997. PMID: 9066365

4

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: johnson ma. Neuropediatrics. 1993 Apr;24(2):93-7. doi: 10.1055/s-2008-1071521. Neuropediatrics. 1993. PMID: 8327067

5

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. Among authors: johnson ma. Neuromuscul Disord. 1993 Jan;3(1):57-64. doi: 10.1016/0960-8966(93)90042-i. Neuromuscul Disord. 1993. PMID: 8329890

6

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. Among authors: johnson ma. Neuromuscul Disord. 1998 Dec;8(8):574-9. doi: 10.1016/s0960-8966(98)00088-1. Neuromuscul Disord. 1998. PMID: 10093064

7

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: johnson ma. Hum Mol Genet. 1999 May;8(5):855-61. doi: 10.1093/hmg/8.5.855. Hum Mol Genet. 1999. PMID: 10196375

8

The epidemiology of pathogenic mitochondrial DNA mutations.

Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. Chinnery PF, et al. Among authors: johnson ma. Ann Neurol. 2000 Aug;48(2):188-93. Ann Neurol. 2000. PMID: 10939569

9

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: johnson ma. Neuromuscul Disord. 2001 Jan;11(1):80-7. doi: 10.1016/s0960-8966(00)00154-1. Neuromuscul Disord. 2001. PMID: 11166169

10

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.

McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K, Shaw PJ. McDermott CJ, et al. Among authors: johnson ma. Neurology. 2001 Feb 27;56(4):467-71. doi: 10.1212/wnl.56.4.467. Neurology. 2001. PMID: 11222789

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