Taylor AM - Search Results

1

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA. van Os NJ, et al. Among authors: taylor am. Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26662178 Review.

2

Molecular pathology of ataxia telangiectasia.

Taylor AM, Byrd PJ. Taylor AM, et al. J Clin Pathol. 2005 Oct;58(10):1009-15. doi: 10.1136/jcp.2005.026062. J Clin Pathol. 2005. PMID: 16189143 Free PMC article. Review.

3

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

Hiel JA, van Engelen BG, Weemaes CM, Broeks A, Verrips A, ter Laak H, Vingerhoets HM, van den Heuvel LP, Lammens M, Gabreëls FJ, Last JI, Taylor AM. Hiel JA, et al. Among authors: taylor am. Neurology. 2006 Jul 25;67(2):346-9. doi: 10.1212/01.wnl.0000224878.22821.23. Neurology. 2006. PMID: 16864838

4

Clinical spectrum of ataxia-telangiectasia in adulthood.

Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van't Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M. Verhagen MM, et al. Among authors: taylor am. Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17. Neurology. 2009. PMID: 19535770

5

Ataxia telangiectasia: more variation at clinical and cellular levels.

Taylor AM, Lam Z, Last JI, Byrd PJ. Taylor AM, et al. Clin Genet. 2015 Mar;87(3):199-208. doi: 10.1111/cge.12453. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25040471 Review.

6

Ataxia-telangiectasia: Immunodeficiency and survival.

van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP. van Os NJH, et al. Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24. Clin Immunol. 2017. PMID: 28126470 Free article.

7

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.

Schoenaker MHD, Van Os NJH, Van der Flier M, Van Deuren M, Seyger MM, Taylor AMR, Weemaes CMR, Willemsen MAAP. Schoenaker MHD, et al. Eur J Med Genet. 2018 May;61(5):284-287. doi: 10.1016/j.ejmg.2017.12.012. Epub 2017 Dec 26. Eur J Med Genet. 2018. PMID: 29288088

8

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC. van Os NJH, et al. Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30. Neurology. 2019. PMID: 30504431

9

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP. van Os NJH, et al. J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28. J Med Genet. 2019. PMID: 30819809

10

Classic ataxia-telangiectasia: the phenotype of long-term survivors.

van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR, van de Warrenburg BPC, Willemsen MAAP. van Os NJH, et al. J Neurol. 2020 Mar;267(3):830-837. doi: 10.1007/s00415-019-09641-1. Epub 2019 Nov 27. J Neurol. 2020. PMID: 31776720 Free PMC article.

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