Lynch B - Search Results

1

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

McGovern M, Flanagan O, Lynch B, Lynch SA, Allen NM. McGovern M, et al. Among authors: lynch b, lynch sa. Clin Genet. 2017 Oct;92(4):447-448. doi: 10.1111/cge.13016. Epub 2017 May 25. Clin Genet. 2017. PMID: 28542708

2

Limbic encephalitis in a boy with N-methyl-D-aspartate receptor antibodies.

Allen NM, Lynch B, Twomey E. Allen NM, et al. Among authors: lynch b. J Pediatr. 2012 Jun;160(6):1060. doi: 10.1016/j.jpeds.2011.12.041. Epub 2012 Feb 14. J Pediatr. 2012. PMID: 22336573 No abstract available.

3

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.

Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD. Allen NM, et al. Among authors: lynch b, lynch sa. Am J Med Genet A. 2014 Jul;164A(7):1863-6. doi: 10.1002/ajmg.a.36532. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700477 No abstract available.

4

The variable phenotypes of KCNQ-related epilepsy.

Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, King MD. Allen NM, et al. Among authors: lynch sa, lynch b. Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22. Epilepsia. 2014. PMID: 25052858 Free article.

5

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.

Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD. Allen NM, et al. Among authors: lynch b, lynch sa. Eur J Paediatr Neurol. 2015 Jul;19(4):390-4. doi: 10.1016/j.ejpn.2015.03.010. Epub 2015 Apr 10. Eur J Paediatr Neurol. 2015. PMID: 25920948

6

Friedreich Ataxia in Classical Galactosaemia.

Neville S, O'Sullivan S, Sweeney B, Lynch B, Hanrahan D, Knerr I, Lynch SA, Crushell E. Neville S, et al. Among authors: lynch b, lynch sa. JIMD Rep. 2016;26:1-5. doi: 10.1007/8904_2015_477. Epub 2015 Jul 29. JIMD Rep. 2016. PMID: 26219880 Free PMC article.

7

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

Allen NM, Conroy J, Shahwan A, Lynch B, Correa RG, Pena SD, McCreary D, Magalhães TR, Ennis S, Lynch SA, King MD. Allen NM, et al. Among authors: lynch b, lynch sa. Epilepsia. 2016 Jan;57(1):e12-7. doi: 10.1111/epi.13250. Epub 2015 Dec 9. Epilepsia. 2016. PMID: 26648591 Free article.

8

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD. Conroy J, et al. Among authors: lynch b, lynch sa. J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193218

9

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca²⁺ signal patterns.

Casey JP, Hirouchi T, Hisatsune C, Lynch B, Murphy R, Dunne AM, Miyamoto A, Ennis S, van der Spek N, O'Hici B, Mikoshiba K, Lynch SA. Casey JP, et al. Among authors: lynch b, lynch sa. J Neurol. 2017 Jul;264(7):1444-1453. doi: 10.1007/s00415-017-8545-5. Epub 2017 Jun 15. J Neurol. 2017. PMID: 28620721

10

Status dystonicus due to missense variant in ARX: Diagnosis and management.

Gorman KM, Cary H, Gaffney L, Forman E, Waldron D, Al-Delami F, Lynch BJ, King MD, Allen NM. Gorman KM, et al. Eur J Paediatr Neurol. 2018 Sep;22(5):862-865. doi: 10.1016/j.ejpn.2018.04.015. Epub 2018 May 3. Eur J Paediatr Neurol. 2018. PMID: 29778428

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