Jonckheere AI - Search Results

1

Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.

Mangodt TC, Vanden Driessche K, Norga KK, Moes N, De Bruyne M, Haerynck F, Bordon V, Jansen AC, Jonckheere AI. Mangodt TC, et al. Among authors: jonckheere ai. BMC Pediatr. 2023 Jul 13;23(1):353. doi: 10.1186/s12887-023-04182-z. BMC Pediatr. 2023. PMID: 37443020 Free PMC article. Review.

2

Metachromatic leukodystrophy: To screen or not to screen?

Jonckheere AI, Kingma SDK, Eyskens F, Bordon V, Jansen AC. Jonckheere AI, et al. Eur J Paediatr Neurol. 2023 Sep;46:1-7. doi: 10.1016/j.ejpn.2023.06.005. Epub 2023 Jun 19. Eur J Paediatr Neurol. 2023. PMID: 37354699 Review.

3

Natural history of three late-diagnosed classic Galactosemia patients.

Quelhas D, Kingma SDK, Jonckheere AI, Smeets-Peels CS, Gomes DC, Duro J, Oliveira A, Matthijs G, Steinbusch LKM, Jaeken J, Rivera I, Rubio-Gozalbo E. Quelhas D, et al. Among authors: jonckheere ai. Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469096 Free PMC article.

4

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Kingma SDK, Jonckheere AI. Kingma SDK, et al. Among authors: jonckheere ai. J Inherit Metab Dis. 2021 Nov;44(6):1289-1310. doi: 10.1002/jimd.12431. Epub 2021 Sep 15. J Inherit Metab Dis. 2021. PMID: 34480380 Review.

5

Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Kingma SDK, Ceulemans B, Kenis S, Jonckheere AI. Kingma SDK, et al. Among authors: jonckheere ai. JIMD Rep. 2021 Mar 18;59(1):90-103. doi: 10.1002/jmd2.12204. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977034 Free PMC article.

6

Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity.

Sente T, Van Berendoncks AM, Jonckheere AI, Rodenburg RJ, Lauwers P, Van Hoof V, Wouters A, Lardon F, Hoymans VY, Vrints CJ. Sente T, et al. Among authors: jonckheere ai. BMC Cardiovasc Disord. 2016 May 26;16:107. doi: 10.1186/s12872-016-0278-3. BMC Cardiovasc Disord. 2016. PMID: 27228977 Free PMC article.

7

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Blanchet L, Smeitink JA, van Emst-de Vries SE, Vogels C, Pellegrini M, Jonckheere AI, Rodenburg RJ, Buydens LM, Beyrath J, Willems PH, Koopman WJ. Blanchet L, et al. Among authors: jonckheere ai. Sci Rep. 2015 Jan 26;5:8035. doi: 10.1038/srep08035. Sci Rep. 2015. PMID: 25620325 Free PMC article.

8

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Brain. 2013 May;136(Pt 5):1544-54. doi: 10.1093/brain/awt086. Epub 2013 Apr 18. Brain. 2013. PMID: 23599390

9

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

Koene S, Wortmann SB, de Vries MC, Jonckheere AI, Morava E, de Groot IJ, Smeitink JA. Koene S, et al. Among authors: jonckheere ai. Mitochondrion. 2013 Jan;13(1):15-24. doi: 10.1016/j.mito.2012.11.002. Epub 2012 Nov 17. Mitochondrion. 2013. PMID: 23164801

10

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14. Mitochondrion. 2011. PMID: 21945727

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