Fahey MC - Search Results

1

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.

Vinton A, Fahey MC, O'Brien TJ, Shaw J, Storey E, Gardner RJ, Mitchell PJ, Du Sart D, King JO. Vinton A, et al. Among authors: fahey mc. Am J Med Genet A. 2005 Jul 15;136(2):201-4. doi: 10.1002/ajmg.a.30355. Am J Med Genet A. 2005. PMID: 15948186

2

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. 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

3

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.

Fahey MC, Knight MA, Shaw JH, Gardner RJ, du Sart D, Lockhart PJ, Delatycki MB, Gates PC, Storey E. Fahey MC, et al. J Neurol Neurosurg Psychiatry. 2005 Dec;76(12):1720-2. doi: 10.1136/jnnp.2004.044115. J Neurol Neurosurg Psychiatry. 2005. PMID: 16291902 Free PMC article.

4

Towards an understanding of cognitive function in Friedreich ataxia.

Corben LA, Georgiou-Karistianis N, Fahey MC, Storey E, Churchyard A, Horne M, Bradshaw JL, Delatycki MB. Corben LA, et al. Among authors: fahey mc. Brain Res Bull. 2006 Jul 31;70(3):197-202. doi: 10.1016/j.brainresbull.2006.06.001. Epub 2006 Jun 21. Brain Res Bull. 2006. PMID: 16861103 Review.

5

A new dominantly inherited pure cerebellar ataxia, SCA 30.

Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. Storey E, et al. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):408-11. doi: 10.1136/jnnp.2008.159459. Epub 2008 Nov 7. J Neurol Neurosurg Psychiatry. 2009. PMID: 18996908

6

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB. Evans-Galea MV, et al. Among authors: fahey mc. Neurogenetics. 2011 Nov;12(4):307-13. doi: 10.1007/s10048-011-0296-3. Epub 2011 Aug 10. Neurogenetics. 2011. PMID: 21830088

7

Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome.

White SM, Fahey M. White SM, et al. Am J Med Genet A. 2011 Oct;155A(10):2512-5. doi: 10.1002/ajmg.a.34184. Am J Med Genet A. 2011. PMID: 21998865

8

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Turner SJ, Hildebrand MS, Block S, Damiano J, Fahey M, Reilly S, Bahlo M, Scheffer IE, Morgan AT. Turner SJ, et al. Am J Med Genet A. 2013 Sep;161A(9):2321-6. doi: 10.1002/ajmg.a.36055. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918746

9

Suicide in frontotemporal dementia and Huntington disease: analysis of family-reported pedigree data and implications for genetic healthcare for asymptomatic relatives.

Sexton A, West K, Gill G, Wiseman A, Taylor J, Purvis R, Fahey M, Storey E, Walsh M, James P. Sexton A, et al. Psychol Health. 2021 Nov;36(11):1397-1402. doi: 10.1080/08870446.2020.1849700. Epub 2020 Nov 24. Psychol Health. 2021. PMID: 33232178

10

Clinical impact of whole-genome sequencing in patients with early-onset dementia.

Huq AJ, Thompson B, Bennett MF, Bournazos A, Bommireddipalli S, Gorelik A, Schultz J, Sexton A, Purvis R, West K, Cotter M, Valente G, Hughes A, Riaz M, Walsh M, Farrand S, Loi SM, Kilpatrick T, Brodtmann A, Darby D, Eratne D, Walterfang M, Delatycki MB, Storey E, Fahey M, Cooper S, Lacaze P, Masters CL, Velakoulis D, Bahlo M, James PA, Winship I. Huq AJ, et al. J Neurol Neurosurg Psychiatry. 2022 Jul 29:jnnp-2021-328146. doi: 10.1136/jnnp-2021-328146. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35906014

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