Brusse E - Search Results

1

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P. van Swieten JC, et al. Among authors: brusse e. Am J Hum Genet. 2003 Jan;72(1):191-9. doi: 10.1086/345488. Epub 2002 Dec 13. Am J Hum Genet. 2003. PMID: 12489043 Free PMC article.

2

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.

Breedveld GJ, van Wetten B, te Raa GD, Brusse E, van Swieten JC, Oostra BA, Maat-Kievit JA. Breedveld GJ, et al. Among authors: brusse e. J Med Genet. 2004 Nov;41(11):858-66. doi: 10.1136/jmg.2004.019232. J Med Genet. 2004. PMID: 15520412 Free PMC article. No abstract available.

3

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.

Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Brusse E, et al. Mov Disord. 2006 Mar;21(3):396-401. doi: 10.1002/mds.20708. Mov Disord. 2006. PMID: 16211615

4

Diagnosis and management of early- and late-onset cerebellar ataxia.

Brusse E, Maat-Kievit JA, van Swieten JC. Brusse E, et al. Clin Genet. 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. Clin Genet. 2007. PMID: 17204042 Review.

5

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

de Wit MC, Lequin MH, de Coo IF, Brusse E, Halley DJ, van de Graaf R, Schot R, Verheijen FW, Mancini GM. de Wit MC, et al. Among authors: brusse e. Arch Neurol. 2008 Mar;65(3):358-66. doi: 10.1001/archneur.65.3.358. Arch Neurol. 2008. PMID: 18332248

6

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Brusse E, Majoor-Krakauer D, de Graaf BM, Visser GH, Swagemakers S, Boon AJ, Oostra BA, Bertoli-Avella AM. Brusse E, et al. Neurogenetics. 2009 Oct;10(4):289-97. doi: 10.1007/s10048-009-0193-1. Epub 2009 Apr 24. Neurogenetics. 2009. PMID: 19396477 Free PMC article.

7

Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom.

Brusse E, Brusse-Keizer MG, Duivenvoorden HJ, van Swieten JC. Brusse E, et al. Among authors: brusse keizer mg. Neurology. 2011 Mar 15;76(11):953-9. doi: 10.1212/WNL.0b013e31821043a4. Neurology. 2011. PMID: 21403106 Free PMC article.

8

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. Sun Y, et al. Among authors: brusse e. Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23418007

9

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Among authors: brusse e. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.

10

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.

Mol MO, van Rooij JGJ, Brusse E, Verkerk AJMH, Melhem S, den Dunnen WFA, Rizzu P, Cupidi C, van Swieten JC, Donker Kaat L. Mol MO, et al. Among authors: brusse e. Neurol Genet. 2020 Mar 23;6(3):e417. doi: 10.1212/NXG.0000000000000417. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32337344 Free PMC article.

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