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Erfelijke stofwisselingsziekten
De stofwisseling speelt een cruciale rol in het lichaam. Erfelijke aandoeningen kunnen stofwisselingsprocessen op zeer verschillende wijze verstoren. Hoewel de…
Medical mystery: intrauteriene groeiretardatie
Bij een zwangere dame bemerkt de gynaecoloog een belangrijke intrauteriene groeiretardatie. Antenatale echografie kan geen definitief uitsluitsel geven over de ernst en het type van placentaire abnormaliteit die wordt vermoed.
Single MRI-Based Volumetric Assessment in Clinical Practice Is Associated With MS-Related Disability.
J Magn Reson Imaging. 2019 May;49(5):1312-1321. doi: 10.1002/jmri.26303. Epub 2018 Dec 31. PMID: 30597656
Fluoxetine in progressive multiple sclerosis: The FLUOX-PMS trial.
Mult Scler. 2019 Nov;25(13):1728-1735. doi: 10.1177/1352458519843051. Epub 2019 Jun 20. PMID: 31218911
Loss of paraplegin drives spasticity rather than ataxia in SPG7: a European cohort analysis of 238 patients.
Tubulinopathies continued: Refining the phenotypic spectrum associated with mutations in TUBG1.
Eur J Hum Genet. 2018 Aug;26(8):1132-1142. doi: 10.1038/s41431-018-0146-y. Epub 2018 Apr 30.
The natural history of Vanishing White Matter.
Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.
Improving fatigue in multiple sclerosis by smartphone-supported energy management: The MS TeleCoach feasibility study.
Mult Scler Relat Disord. 2018 May;22:90-96. doi: 10.1016/j.msard.2018.03.020. Epub 2018 Mar 27.
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314.
Fluoxetine in progressive multiple sclerosis (FLUOX-PMS): study protocol for a randomized controlled trial.
Trials 2014;15(1):37.
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.
X-Linked Sideroblastic Anemia and Ataxia.
Seattle (WA): University of Washington, Seattle; 1993-2014.
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
Neuromolecular Med. 2013 Sep;15(3):447-57. doi: 10.1007/s12017-013-8231-4. Epub 2013 Apr 30.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.
Methylation defect in imprinted genes detected in patients with an Albright’s hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
PLoS One. 2012;7(6):e38579. doi: 10.1371/journal.pone.0038579