Fahey M - Search Results

1

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Hildebrand MS, Jackson VE, Scerri TS, Van Reyk O, Coleman M, Braden RO, Turner S, Rigbye KA, Boys A, Barton S, Webster R, Fahey M, Saunders K, Parry-Fielder B, Paxton G, Hayman M, Coman D, Goel H, Baxter A, Ma A, Davis N, Reilly S, Delatycki M, Liégeois FJ, Connelly A, Gecz J, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Hildebrand MS, et al. Among authors: fahey m. Neurology. 2020 May 19;94(20):e2148-e2167. doi: 10.1212/WNL.0000000000009441. Epub 2020 Apr 28. Neurology. 2020. PMID: 32345733

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. Among authors: fahey m. 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

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability.

Snape KM, Fahey MC, McGillivray G, Gupta P, Milewicz DM, Delatycki MB. Snape KM, et al. Among authors: fahey mc. Clin Dysmorphol. 2006 Apr;15(2):95-9. doi: 10.1097/01.mcd.0000203633.86190.2d. Clin Dysmorphol. 2006. PMID: 16531736

5

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.

6

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. 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.

7

The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia.

Fahey MC, Corben LA, Collins V, Churchyard AJ, Delatycki MB. Fahey MC, et al. Neurology. 2007 Feb 27;68(9):705-6. doi: 10.1212/01.wnl.0000256037.63832.6f. Neurology. 2007. PMID: 17325285 No abstract available.

8

Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?

Wilson CL, Fahey MC, Corben LA, Collins VR, Churchyard AJ, Lamont PJ, Delatycki MB. Wilson CL, et al. Among authors: fahey mc. Eur J Neurol. 2007 Sep;14(9):1040-7. doi: 10.1111/j.1468-1331.2007.01881.x. Eur J Neurol. 2007. PMID: 17718698

9

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia.

Fahey MC, Cremer PD, Aw ST, Millist L, Todd MJ, White OB, Halmagyi M, Corben LA, Collins V, Churchyard AJ, Tan K, Kowal L, Delatycki MB. Fahey MC, et al. Brain. 2008 Apr;131(Pt 4):1035-45. doi: 10.1093/brain/awm323. Epub 2008 Jan 30. Brain. 2008. PMID: 18238798

10

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. Among authors: fahey m. 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

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