Projects per year
Personal profile
Research interests
- Genetic and congenital disorders of the nervous system.
- Neurometabolic, peroxisomal disorders.
specialisation
Pediatric Neurology
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
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Poll-The B.T.: Genetic and congenital disorders of the nervous system and neurometabolic diseases
van Dijk, T., Huffnagel, I., Klouwer, F. & Poll-The, B.
1/06/2007 → …
Project: Research
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Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
Berendse, K., Engelen, M., Ferdinandusse, S., Majoie, C. B. L. M., Waterham, H. R., Vaz, F. M., Koelman, J. H. T. M., Barth, P. G., Wanders, R. J. A. & Poll-The, B. T., 2016, In: Journal of Inherited Metabolic Disease. 39, 1, p. 93-106Research output: Contribution to journal › Article › Academic › peer-review
66 Citations (Scopus) -
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
Engelen, M., Barbier, M., Dijkstra, I. M. E., Schür, R., de Bie, R. M. A., Verhamme, C., Dijkgraaf, M. G. W., Aubourg, P. A., Wanders, R. J. A., van Geel, B. M., de Visser, M., Poll-The, B. T. & Kemp, S., 2014, In: Brain. 137, Part 3, p. 693-706Research output: Contribution to journal › Article › Academic › peer-review
165 Citations (Scopus) -
The neurology of rhizomelic chondrodysplasia punctata
Bams-Mengerink, A. M., Koelman, J. H., Waterham, H., Barth, P. G. & Poll-The, B. T., 2013, In: Orphanet Journal of Rare Diseases. 8, 1, p. 174Research output: Contribution to journal › Article › Academic › peer-review
45 Citations (Scopus) -
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
AUTHOR GROUP, Graham Jr., J. M. & van der Knaap, M. S., 2011, In: Brain. 134, Part 1, p. 143-156Research output: Contribution to journal › Article › Academic › peer-review
179 Citations (Scopus) -
Lovastatin in X-Linked Adrenoleukodystrophy
Engelen, M., Ofman, R., Dijkgraaf, M. G. W., Hijzen, M., van der Wardt, L. A., van Geel, B. M., de Visser, M., Wanders, R. J. A., Poll-The, B. T. & Kemp, S., 2010, In: New England journal of medicine. 362, 3, p. 276-277Research output: Contribution to journal › Comment/Letter to the editor › Academic
46 Citations (Scopus)
Datasets
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Additional file 1: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. (Creator), Janssens, G. (Creator), van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. (Contributor), Kemp, S. (Creator), Engelen, M. (Creator) & Weeghel, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693295.v1, https://springernature.figshare.com/articles/Additional_file_1_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693295/1
Dataset
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Additional file 1: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. (Creator), Janssens, G. (Creator), van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. (Contributor), Kemp, S. (Creator), Engelen, M. (Creator) & Weeghel, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693295, https://springernature.figshare.com/articles/Additional_file_1_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693295
Dataset
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Additional file 2: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. (Creator), Janssens, G. (Creator), van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. (Contributor), Kemp, S. (Creator), Engelen, M. (Creator) & Weeghel, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693298.v1, https://springernature.figshare.com/articles/Additional_file_2_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693298/1
Dataset
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Additional file 2: of Disease progression in women with X-linked adrenoleukodystrophy is slow
Huffnagel, I. C. (Creator), Dijkgraaf, M. (Creator), Janssens, G. (Creator), van Weeghel, M. (Contributor), Van Geel, B. M. (Contributor), Poll-The, B. (Contributor), Kemp, S. (Creator), Engelen, M. (Creator) & Weeghel, M. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7693298, https://springernature.figshare.com/articles/Additional_file_2_of_Disease_progression_in_women_with_X-linked_adrenoleukodystrophy_is_slow/7693298
Dataset