Weemaes CM - Search Results

1

Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor.

Hiel JA, Weemaes CM, Smeets DF, Van de Vlasakker CJ, Horstink MW. Hiel JA, et al. Among authors: weemaes cm. Mov Disord. 1994 Jul;9(4):460-2. doi: 10.1002/mds.870090415. Mov Disord. 1994. PMID: 7526160

2

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: weemaes cm. Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17. Neurology. 2009. PMID: 19535770

3

Variants of Nijmegen breakage syndrome and ataxia telangiectasia.

Weemaes CM, Smeets DF, Horstink M, Haraldsson A, Bakkeren JA. Weemaes CM, et al. Immunodeficiency. 1993;4(1-4):109-11. Immunodeficiency. 1993. PMID: 7513225

4

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

van Belzen MJ, Hiel JA, Weemaes CM, Gabreëls FJ, van Engelen BG, Smeets DF, van den Heuvel LP. van Belzen MJ, et al. Among authors: weemaes cm. Hum Genet. 1998 Feb;102(2):187-91. doi: 10.1007/s004390050675. Hum Genet. 1998. PMID: 9521587

5

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: weemaes cm. Neurology. 2006 Jul 25;67(2):346-9. doi: 10.1212/01.wnl.0000224878.22821.23. Neurology. 2006. PMID: 16864838

6

Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study.

Verhagen MM, van Alfen N, Pillen S, Weemaes CM, Yntema JL, Hiel JA, Ter Laak H, van Deuren M, Broeks A, Willemsen MA. Verhagen MM, et al. Among authors: weemaes cm. Neuropediatrics. 2007 Jun;38(3):117-21. doi: 10.1055/s-2007-985899. Neuropediatrics. 2007. PMID: 17985259

7

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Among authors: weemaes cm. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089

8

Nijmegen breakage syndrome.

van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. van der Burgt I, et al. J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. J Med Genet. 1996. PMID: 8929954 Free PMC article. Review.

9

Nijmegen Breakage syndrome: a progress report.

Weemaes CM, Smeets DF, van der Burgt CJ. Weemaes CM, et al. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S185-8. Int J Radiat Biol. 1994. PMID: 7836846 Review.

10

ICF syndrome: a new case and review of the literature.

Smeets DF, Moog U, Weemaes CM, Vaes-Peeters G, Merkx GF, Niehof JP, Hamers G. Smeets DF, et al. Among authors: weemaes cm. Hum Genet. 1994 Sep;94(3):240-6. doi: 10.1007/BF00208277. Hum Genet. 1994. PMID: 8076938 Review.

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