Bushby K - Search Results

1

CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND).

Shaw PJ, Tomkins J, Slade JY, Usher P, Curtis A, Bushby K, Ince PG. Shaw PJ, et al. Among authors: bushby k. Neuroreport. 1997 Dec 22;8(18):3923-7. doi: 10.1097/00001756-199712220-00016. Neuroreport. 1997. PMID: 9462467

2

Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS).

Tomkins J, Usher P, Slade JY, Ince PG, Curtis A, Bushby K, Shaw PJ. Tomkins J, et al. Among authors: bushby k. Neuroreport. 1998 Dec 1;9(17):3967-70. doi: 10.1097/00001756-199812010-00036. Neuroreport. 1998. PMID: 9875737

3

Kennedy's disease: unusual molecular pathologic and clinical features.

Shaw PJ, Thagesen H, Tomkins J, Slade JY, Usher P, Jackson A, Curtis A, Bushby K, Ince PG. Shaw PJ, et al. Among authors: bushby k. Neurology. 1998 Jul;51(1):252-5. doi: 10.1212/wnl.51.1.252. Neurology. 1998. PMID: 9674812

4

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: bushby k. Neurology. 2001 Feb 27;56(4):467-71. doi: 10.1212/wnl.56.4.467. Neurology. 2001. PMID: 11222789

5

Hereditary vascular dementia linked to notch 3 mutations. CADASIL in British families.

Thomas NJ, Morris CM, Scaravilli F, Johansson J, Rossor M, De Lange R, St Clair D, Nicoll J, Blank C, Coulthard A, Bushby K, Ince PG, Burn D, Kalaria RN. Thomas NJ, et al. Among authors: bushby k. Ann N Y Acad Sci. 2000 Apr;903:293-8. doi: 10.1111/j.1749-6632.2000.tb06379.x. Ann N Y Acad Sci. 2000. PMID: 10818518 Review.

6

Hereditary spastic paraparesis: a review of new developments.

McDermott C, White K, Bushby K, Shaw P. McDermott C, et al. Among authors: bushby k. J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):150-60. doi: 10.1136/jnnp.69.2.150. J Neurol Neurosurg Psychiatry. 2000. PMID: 10896685 Free PMC article. Review. No abstract available.

7

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.

Vafiadaki E, Reis A, Keers S, Harrison R, Anderson LV, Raffelsberger T, Ivanova S, Hoger H, Bittner RE, Bushby K, Bashir R. Vafiadaki E, et al. Among authors: bushby k. Neuroreport. 2001 Mar 5;12(3):625-9. doi: 10.1097/00001756-200103050-00039. Neuroreport. 2001. PMID: 11234777

8

Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection.

Pogue R, West S, Bushby K. Pogue R, et al. Among authors: bushby k. Genomics. 1998 Nov 15;54(1):1-4. doi: 10.1006/geno.1998.5525. Genomics. 1998. PMID: 9806823

9

The phenotype of limb-girdle muscular dystrophy type 2I.

Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K. Poppe M, et al. Among authors: bushby k. Neurology. 2003 Apr 22;60(8):1246-51. doi: 10.1212/01.wnl.0000058902.88181.3d. Neurology. 2003. PMID: 12707425

10

Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. Bashir R, et al. Among authors: bushby k. Nat Genet. 1998 Sep;20(1):37-42. doi: 10.1038/1689. Nat Genet. 1998. PMID: 9731527

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