Delatycki MB - Search Results

1

How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.

Fahey MC, Corben L, Collins V, Churchyard AJ, Delatycki MB. Fahey MC, et al. Among authors: delatycki mb. J Neurol Neurosurg Psychiatry. 2007 Apr;78(4):411-3. doi: 10.1136/jnnp.2006.096008. Epub 2006 Oct 20. J Neurol Neurosurg Psychiatry. 2007. PMID: 17056635 Free PMC article. Clinical Trial.

2

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia.

Delatycki MB, Camakaris J, Brooks H, Evans-Whipp T, Thorburn DR, Williamson R, Forrest SM. Delatycki MB, et al. Ann Neurol. 1999 May;45(5):673-5. Ann Neurol. 1999. PMID: 10319894

3

Clinical and genetic study of Friedreich ataxia in an Australian population.

Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM. Delatycki MB, et al. Am J Med Genet. 1999 Nov 19;87(2):168-74. doi: 10.1002/(sici)1096-8628(19991119)87:2<168::aid-ajmg8>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10533031

4

Friedreich ataxia: an overview.

Delatycki MB, Williamson R, Forrest SM. Delatycki MB, et al. J Med Genet. 2000 Jan;37(1):1-8. doi: 10.1136/jmg.37.1.1. J Med Genet. 2000. PMID: 10633128 Free PMC article. Review.

5

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.

Forrest SM, Knight M, Delatycki MB, Paris D, Williamson R, King J, Yeung L, Nassif N, Nicholson GA. Forrest SM, et al. Among authors: delatycki mb. Neurogenetics. 1998 Aug;1(4):253-7. doi: 10.1007/s100480050037. Neurogenetics. 1998. PMID: 10732799

6

De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.

Delatycki MB, Danks A, Churchyard A, Zhou XP, Eng C. Delatycki MB, et al. J Med Genet. 2003 Aug;40(8):e92. doi: 10.1136/jmg.40.8.e92. J Med Genet. 2003. PMID: 12920084 Free PMC article. No abstract available.

7

Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.

Nisselle AE, Delatycki MB, Collins V, Metcalfe S, Aitken MA, du Sart D, Halliday J, Macciocca I, Wakefield A, Hill V, Gason A, Warner B, Calabro V, Williamson R, Allen KJ. Nisselle AE, et al. Among authors: delatycki mb. Clin Genet. 2004 May;65(5):358-67. doi: 10.1111/j.1399-0004.2004.0239.x. Clin Genet. 2004. PMID: 15099342

8

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. White SM, et al. Among authors: delatycki mb. Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674. Am J Med Genet A. 2004. PMID: 15108197

9

Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence.

Delatycki MB, Holian A, Corben L, Rawicki HB, Blackburn C, Hoare B, Toy M, Churchyard A. Delatycki MB, et al. Clin Orthop Relat Res. 2005 Jan;(430):138-41. doi: 10.1097/01.blo.0000150339.74041.0e. Clin Orthop Relat Res. 2005. PMID: 15662315 Clinical Trial.

10

Friedreich ataxia: from genes to therapies?

Delatycki MB, Ioannou PA, Churchyard AJ. Delatycki MB, et al. Med J Aust. 2005 May 2;182(9):439. doi: 10.5694/j.1326-5377.2005.tb06779.x. Med J Aust. 2005. PMID: 15865583

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