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Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group. van Os NJH, et al. Among authors: van der flier m, van deuren m, van de warrenburg bpc. Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Dev Med Child Neurol. 2017. PMID: 28318010 Free article. Review.
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. Among authors: van der flier m, van driel ntm, van deuren m, van de warrenburg bpc. 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.
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. Among authors: van gaalen j, van deuren m, van de warrenburg bpc. Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30. Neurology. 2019. PMID: 30504431
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE. Schon K, et al. Among authors: van os njh, van de warrenburg bp. Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. Ann Neurol. 2019. PMID: 30549301 Free PMC article.
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. Among authors: van gaalen j, van deuren m, van de warrenburg bpc. 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
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. Among authors: van gaalen j, van deuren m, van de warrenburg bpc. 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.
Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.
Painous C, van Os NJH, Delamarre A, Michailoviene I, Marti MJ, van de Warrenburg BP, Meissner WG, Utkus A, Reinhard C, Graessner H, Tijssen MA. Painous C, et al. Among authors: van os njh, van de warrenburg bp. Eur J Neurol. 2020 Aug;27(8):1493-1500. doi: 10.1111/ene.14302. Epub 2020 Jun 19. Eur J Neurol. 2020. PMID: 32386078 Free PMC article.
Dysarthria in children and adults with ataxia telangiectasia.
Veenhuis SJG, van Os NJH, van Gerven MHJC, van Haaften L, Mulder EH, Weemaes CMR, Willemsen MAAP. Veenhuis SJG, et al. Among authors: van os njh. Dev Med Child Neurol. 2021 Apr;63(4):450-456. doi: 10.1111/dmcn.14811. Epub 2021 Jan 31. Dev Med Child Neurol. 2021. PMID: 33521952 Free PMC article.
33 results