Birch R - Search Results

1

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.

Hindocha N, Nashef L, Elmslie F, Birch R, Zuberi S, Al-Chalabi A, Crotti L, Schwartz PJ, Makoff A. Hindocha N, et al. Among authors: birch r. Epilepsia. 2008 Feb;49(2):360-5. doi: 10.1111/j.1528-1167.2007.01439_2.x. Epilepsia. 2008. PMID: 18251839 Free article. No abstract available.

2

A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM. Livingston JH, et al. Among authors: birch r. J Child Neurol. 2009 Apr;24(4):503-8. doi: 10.1177/0883073808324537. J Child Neurol. 2009. PMID: 19339291

3

Genotype-phenotype associations in SCN1A-related epilepsies.

Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Zuberi SM, et al. Among authors: birch r. Neurology. 2011 Feb 15;76(7):594-600. doi: 10.1212/WNL.0b013e31820c309b. Epub 2011 Jan 19. Neurology. 2011. PMID: 21248271

4

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

Nishri D, Blumkin L, Lev D, Leshinsky-Silver E, Abu-Rashid M, Birch R, Zuberi SM, Lerman-Sagie T. Nishri D, et al. Among authors: birch r. Eur J Paediatr Neurol. 2010 Sep;14(5):456-9. doi: 10.1016/j.ejpn.2010.03.002. Epub 2010 Apr 13. Eur J Paediatr Neurol. 2010. PMID: 20392657

5

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC. Heron SE, et al. Among authors: birch r. J Med Genet. 2010 Feb;47(2):137-41. doi: 10.1136/jmg.2008.065912. Epub 2009 Jul 8. J Med Genet. 2010. PMID: 19589774

6

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Ramsden SC, Clayton-Smith J, Birch R, Buiting K. Ramsden SC, et al. Among authors: birch r. BMC Med Genet. 2010 May 11;11:70. doi: 10.1186/1471-2350-11-70. BMC Med Genet. 2010. PMID: 20459762 Free PMC article.

7

Selective subcortical contributions to gait impairments in males with the FMR1 premutation.

Birch RC, Hocking DR, Cornish KM, Menant JC, Lord SR, Georgiou-Karistianis N, Godler DE, Wen W, Rogers C, Trollor JN. Birch RC, et al. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):188-190. doi: 10.1136/jnnp-2016-313937. Epub 2016 Sep 28. J Neurol Neurosurg Psychiatry. 2017. PMID: 27683920 No abstract available.

8

Prevalence and predictors of subjective memory complaints in adult male carriers of the FMR1 premutation.

Birch RC, Hocking DR, Trollor JN. Birch RC, et al. Clin Neuropsychol. 2016 Aug;30(6):834-48. doi: 10.1080/13854046.2016.1145905. Epub 2016 Jun 29. Clin Neuropsychol. 2016. PMID: 27355815

9

Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife.

Birch RC, Trollor JN. Birch RC, et al. JAMA Neurol. 2017 May 1;74(5):603-604. doi: 10.1001/jamaneurol.2016.4063. JAMA Neurol. 2017. PMID: 28319232 No abstract available.

10

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.

Hocking DR, Birch RC, Bui QM, Menant JC, Lord SR, Georgiou-Karistianis N, Godler DE, Wen W, Hackett A, Rogers C, Trollor JN. Hocking DR, et al. Among authors: birch rc. Neurobiol Aging. 2017 Feb;50:5-12. doi: 10.1016/j.neurobiolaging.2016.10.017. Epub 2016 Oct 15. Neurobiol Aging. 2017. PMID: 27837676

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