Waterham HR - Search Results

1

Genome sequencing in persistently unsolved white matter disorders.

Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A. Helman G, et al. Among authors: waterham hr. Ann Clin Transl Neurol. 2020 Jan;7(1):144-152. doi: 10.1002/acn3.50957. Epub 2020 Jan 7. Ann Clin Transl Neurol. 2020. PMID: 31912665 Free PMC article.

2

Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids.

Ferdinandusse S, Mulders J, IJlst L, Denis S, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Among authors: waterham hr. Biochem Biophys Res Commun. 1999 Sep 16;263(1):213-8. doi: 10.1006/bbrc.1999.1340. Biochem Biophys Res Commun. 1999. PMID: 10486279

3

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.

Ferdinandusse S, Denis S, IJlst L, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Among authors: waterham hr. J Lipid Res. 2000 Nov;41(11):1890-6. J Lipid Res. 2000. PMID: 11060359 Free article.

4

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.

Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P. Ferdinandusse S, et al. Among authors: waterham hr. J Lipid Res. 2001 Jan;42(1):137-41. J Lipid Res. 2001. PMID: 11160375 Free article.

5

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Barth PG, Majoie CB, Gootjes J, Wanders RJ, Waterham HR, van der Knaap MS, de Klerk JB, Smeitink J, Poll-The BT. Barth PG, et al. Among authors: waterham hr. Neurology. 2004 Feb 10;62(3):439-44. doi: 10.1212/01.wnl.0000106943.40848.03. Neurology. 2004. PMID: 14872027

6

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

Ferdinandusse S, Barker S, Lachlan K, Duran M, Waterham HR, Wanders RJ, Hammans S. Ferdinandusse S, et al. Among authors: waterham hr. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):310-2. doi: 10.1136/jnnp.2009.176255. J Neurol Neurosurg Psychiatry. 2010. PMID: 20185470 Free article.

7

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S. Ebberink MS, et al. Among authors: waterham hr. J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20. J Med Genet. 2010. PMID: 20647552 Free article.

8

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

Sevin C, Ferdinandusse S, Waterham HR, Wanders RJ, Aubourg P. Sevin C, et al. Among authors: waterham hr. Orphanet J Rare Dis. 2011 Mar 10;6:8. doi: 10.1186/1750-1172-6-8. Orphanet J Rare Dis. 2011. PMID: 21392394 Free PMC article.

9

MRI as diagnostic tool in early-onset peroxisomal disorders.

van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJ, Waterham HR, Ferdinandusse S. van der Knaap MS, et al. Among authors: waterham hr. Neurology. 2012 Apr 24;78(17):1304-8. doi: 10.1212/WNL.0b013e31825182dc. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459681 Free article.

10

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A. Mignarri A, et al. JIMD Rep. 2012;6:43-6. doi: 10.1007/8904_2011_102. Epub 2012 Jan 29. JIMD Rep. 2012. PMID: 23430938 Free PMC article.

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