Goemans N - Search Results

1

Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.

Jaeken J, Goemans N, Fryns JP, François I, de Zegher F. Jaeken J, et al. Among authors: goemans n. J Inherit Metab Dis. 1996;19(3):275-7. doi: 10.1007/BF01799254. J Inherit Metab Dis. 1996. PMID: 8803768

2

A decade of optimizing drug development for rare neuromuscular disorders through TACT.

Wagner KR, De Luca A, Caizergues D, Dowling J, Goemans N, Gordish-Dressman H, Grounds MD, Kelly M, Mayhew A, McNally EM, Zoetis T, Lee J, Turner C, Wells DJ, Csimma C, Straub V. Wagner KR, et al. Among authors: goemans n. Nat Rev Drug Discov. 2020 Jan;19(1):1-2. doi: 10.1038/d41573-019-00199-1. Nat Rev Drug Discov. 2020. PMID: 31907422 No abstract available.

3

The neonatal sarcoplasmic reticulum Ca2+-ATPase gives a clue to development and pathology in human muscles.

Kósa M, Brinyiczki K, van Damme P, Goemans N, Hancsák K, Mendler L, Zádor E. Kósa M, et al. Among authors: goemans n. J Muscle Res Cell Motil. 2015 Apr;36(2):195-203. doi: 10.1007/s10974-014-9403-z. Epub 2014 Dec 9. J Muscle Res Cell Motil. 2015. PMID: 25487304

4

Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

Schessl J, Goemans NM, Magold AI, Zou Y, Hu Y, Kirschner J, Sciot R, Bönnemann CG. Schessl J, et al. Muscle Nerve. 2008 Sep;38(3):1184-91. doi: 10.1002/mus.21088. Muscle Nerve. 2008. PMID: 18720506

5

Fetal akinesia sequence caused by nemaline myopathy.

Lammens M, Moerman P, Fryns JP, Lemmens F, van de Kamp GM, Goemans N, Dom R. Lammens M, et al. Among authors: goemans n. Neuropediatrics. 1997 Apr;28(2):116-9. doi: 10.1055/s-2007-973683. Neuropediatrics. 1997. PMID: 9208412

6

G protein diseases: newly recognized causes of metabolic encephalopathy.

Jaeken JC, Freson K, Goemans NM, De Cock PP, De Vos RM, Lagae LG, Van Geet CA. Jaeken JC, et al. Eur J Paediatr Neurol. 2003;7(5):211-5. doi: 10.1016/s1090-3798(03)00102-8. Eur J Paediatr Neurol. 2003. PMID: 14511624 No abstract available.

7

Metformin therapy to reduce weight gain and visceral adiposity in children and adolescents with neurogenic or myogenic motor deficit.

Casteels K, Fieuws S, van Helvoirt M, Verpoorten C, Goemans N, Coudyzer W, Loeckx D, de Zegher F. Casteels K, et al. Among authors: goemans n. Pediatr Diabetes. 2010 Feb;11(1):61-9. doi: 10.1111/j.1399-5448.2009.00512.x. Epub 2009 May 28. Pediatr Diabetes. 2010. PMID: 19496972 Clinical Trial.

8

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.

Jaeken J, Vleugels W, Régal L, Corchia C, Goemans N, Haeuptle MA, Foulquier F, Hennet T, Matthijs G, Dionisi-Vici C. Jaeken J, et al. Among authors: goemans n. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S335-8. doi: 10.1007/s10545-009-1297-3. Epub 2009 Oct 24. J Inherit Metab Dis. 2009. PMID: 19856127

9

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR. Régal L, et al. Among authors: goemans n. Ann Neurol. 2010 Aug;68(2):259-63. doi: 10.1002/ana.22035. Ann Neurol. 2010. PMID: 20695019 Review.

10

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

Goubau C, Jaeken J, Levtchenko EN, Thys C, Di Michele M, Martens GA, Gerlo E, De Vos R, Buyse GM, Goemans N, Van Geet C, Freson K. Goubau C, et al. Among authors: goemans n. Genet Med. 2013 Jan;15(1):55-63. doi: 10.1038/gim.2012.90. Epub 2012 Aug 16. Genet Med. 2013. PMID: 22899094 Free article.

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