Crimmins D - Search Results

1

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.

Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E. Jean-Francois MJ, et al. Among authors: crimmins d. Aust N Z J Med. 1994 Apr;24(2):188-93. doi: 10.1111/j.1445-5994.1994.tb00556.x. Aust N Z J Med. 1994. PMID: 8042948

2

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.

Sue CM, Crimmins DS, Soo YS, Pamphlett R, Presgrave CM, Kotsimbos N, Jean-Francois MJ, Byrne E, Morris JG. Sue CM, et al. Among authors: crimmins ds. J Neurol Neurosurg Psychiatry. 1998 Aug;65(2):233-40. doi: 10.1136/jnnp.65.2.233. J Neurol Neurosurg Psychiatry. 1998. PMID: 9703178 Free PMC article.

3

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.

Sue CM, Mitchell P, Crimmins DS, Moshegov C, Byrne E, Morris JG. Sue CM, et al. Among authors: crimmins ds. Neurology. 1997 Oct;49(4):1013-7. doi: 10.1212/wnl.49.4.1013. Neurology. 1997. PMID: 9339682

4

Detection of MELAS A3243G point mutation in muscle, blood and hair follicles.

Sue CM, Quigley A, Katsabanis S, Kapsa R, Crimmins DS, Byrne E, Morris JG. Sue CM, et al. Among authors: crimmins ds. J Neurol Sci. 1998 Nov 26;161(1):36-9. doi: 10.1016/s0022-510x(98)00179-8. J Neurol Sci. 1998. PMID: 9879679 Free article.

5

Mitochondrial gene mutations and diabetes mellitus.

Sue CM, Holmes-Walker DJ, Morris JG, Boyages SC, Crimmins DS, Byrne E. Sue CM, et al. Among authors: crimmins ds. Lancet. 1993 Feb 13;341(8842):437-8. doi: 10.1016/0140-6736(93)93032-v. Lancet. 1993. PMID: 7679179 No abstract available.

6

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.

Crimmins D, Morris JG, Walker GL, Sue CM, Byrne E, Stevens S, Jean-Francis B, Yiannikas C, Pamphlett R. Crimmins D, et al. J Neurol Neurosurg Psychiatry. 1993 Aug;56(8):900-5. doi: 10.1136/jnnp.56.8.900. J Neurol Neurosurg Psychiatry. 1993. PMID: 8350109 Free PMC article.

7

Fits, confusion and peripheral neuropathy in a young woman.

Crimmins D, Marks J, McLeod JG, Morris JG. Crimmins D, et al. Aust N Z J Med. 1990 Aug;20(4):623-8. doi: 10.1111/j.1445-5994.1990.tb01331.x. Aust N Z J Med. 1990. PMID: 2171474 No abstract available.

8

Cochlear origin of hearing loss in MELAS syndrome.

Sue CM, Lipsett LJ, Crimmins DS, Tsang CS, Boyages SC, Presgrave CM, Gibson WP, Byrne E, Morris JG. Sue CM, et al. Among authors: crimmins ds. Ann Neurol. 1998 Mar;43(3):350-9. doi: 10.1002/ana.410430313. Ann Neurol. 1998. PMID: 9506552 Review.

9

A comparison of two methods of eliciting the ankle jerk.

Schwartz RS, Morris JG, Crimmins D, Wilson A, Fahey P, Reid S, Joffe R. Schwartz RS, et al. Among authors: crimmins d. Aust N Z J Med. 1990 Apr;20(2):116-9. doi: 10.1111/j.1445-5994.1990.tb01286.x. Aust N Z J Med. 1990. PMID: 2344316 Clinical Trial.

10

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.

Friend KL, Crimmins D, Phan TG, Sue CM, Colley A, Fung VS, Morris JG, Sutherland GR, Richards RI. Friend KL, et al. Among authors: crimmins d. Hum Genet. 1999 Sep;105(3):261-5. doi: 10.1007/s004390051099. Hum Genet. 1999. PMID: 10987655

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