Bakker E - Search Results

1

Calpainopathy-a survey of mutations and polymorphisms.

Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS. Richard I, et al. Among authors: bakker e. Am J Hum Genet. 1999 Jun;64(6):1524-40. doi: 10.1086/302426. Am J Hum Genet. 1999. PMID: 10330340 Free PMC article.

2

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. Den Dunnen JT, et al. Among authors: bakker e. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

3

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers AL, van Meegen M, Barth PG, Busch HF, Wokke JH, Anderson LV, Bönnemann CG, Jeanpierre M, Bolhuis PA, Moorman AF, de Visser M, Bakker E, Ommen GJ. Ginjaar HB, et al. Among authors: bakker e. J Neurol. 2000 Jul;247(7):524-9. doi: 10.1007/s004150070151. J Neurol. 2000. PMID: 10993494

4

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.

Helderman-van den Enden AT, Ginjaar HB, Kneppers AL, Bakker E, Breuning MH, de Visser M. Helderman-van den Enden AT, et al. Among authors: bakker e. Neuromuscul Disord. 2003 May;13(4):317-21. doi: 10.1016/s0960-8966(02)00285-7. Neuromuscul Disord. 2003. PMID: 12868501

5

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB. van der Kooi AJ, et al. Among authors: bakker e. Neurology. 2007 Jun 12;68(24):2125-8. doi: 10.1212/01.wnl.0000264853.40735.3b. Neurology. 2007. PMID: 17562833

6

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

van Essen AJ, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, Clarke A, Claustres M, Covone AE, et al. van Essen AJ, et al. Among authors: bakker e. Hum Genet. 1992 Jan;88(3):249-57. doi: 10.1007/BF00197255. Hum Genet. 1992. PMID: 1733826

7

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJ, Höweler CJ, Jennekens FG, Jongen P, Oosterhuis HJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, Bakker E, van Ommen GJ, Bolhuis PA, de Visser M. van der Kooi AJ, et al. Among authors: bakker e. Brain. 1996 Oct;119 ( Pt 5):1471-80. doi: 10.1093/brain/119.5.1471. Brain. 1996. PMID: 8931572

8

[Application of combined DNA and dystrophin protein analysis in the diagnosis of Duchenne's and Becker's muscular dystrophy in 102 Dutch patients].

Ginjaar HB, Bakker E, Busch HF, Moorman AF, de Visser M, van Ommen JB. Ginjaar HB, et al. Among authors: bakker e. Ned Tijdschr Geneeskd. 1993 Jan 9;137(2):68-75. Ned Tijdschr Geneeskd. 1993. PMID: 8421530 Dutch.

9

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Helderman-van den Enden AT, van den Bergen JC, Breuning MH, Verschuuren JJ, Tibben A, Bakker E, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: bakker e. Clin Genet. 2011 Mar;79(3):236-42. doi: 10.1111/j.1399-0004.2010.01579.x. Epub 2010 Nov 11. Clin Genet. 2011. PMID: 21070212

10

Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.

Passos-Bueno MR, Bakker E, Marie SK, Pavanello RC, Vainzof M, Carvalho AA, Cohen D, Beckmann J, Zatz M. Passos-Bueno MR, et al. Among authors: bakker e. Hum Mol Genet. 1993 Feb;2(2):201-2. doi: 10.1093/hmg/2.2.201. Hum Mol Genet. 1993. PMID: 8499908 No abstract available.

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