Van Coster R - Search Results

1

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL. Seneca S, et al. Among authors: van hove jl, van coster r. Am J Med Genet A. 2005 Aug 30;137(2):170-5. doi: 10.1002/ajmg.a.30854. Am J Med Genet A. 2005. PMID: 16059939

2

A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

Meulemans A, Seneca S, Lagae L, Lissens W, De Paepe B, Smet J, Van Coster R, De Meirleir L. Meulemans A, et al. Among authors: van coster r. Arch Neurol. 2006 Aug;63(8):1194-8. doi: 10.1001/archneur.63.8.1194. Arch Neurol. 2006. PMID: 16908752

3

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Meulemans A, Seneca S, Smet J, De Paepe B, Lissens W, Van Coster R, Debeer A, De Meirleir L, Jaeken J. Meulemans A, et al. Among authors: van coster r. Eur J Paediatr Neurol. 2007 Jan;11(1):17-20. doi: 10.1016/j.ejpn.2006.10.004. Epub 2006 Dec 11. Eur J Paediatr Neurol. 2007. PMID: 17161635

4

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S. Meulemans A, et al. Among authors: van coster r. Arch Neurol. 2007 Sep;64(9):1339-43. doi: 10.1001/archneur.64.9.1339. Arch Neurol. 2007. PMID: 17846276

5

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R. Vanlander AV, et al. Among authors: van coster r. Hum Mutat. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728. Hum Mutat. 2015. PMID: 25385316

6

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Alston CL, et al. Among authors: van hove jl, van coster r. Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374774 Free PMC article.

7

New insights into the phenotype of FARS2 deficiency.

Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R. Vantroys E, et al. Among authors: van hove j, van coster r. Mol Genet Metab. 2017 Dec;122(4):172-181. doi: 10.1016/j.ymgme.2017.10.004. Epub 2017 Oct 12. Mol Genet Metab. 2017. PMID: 29126765 Free PMC article.

8

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.

Papadimas GK, Vargiami E, Dragoumi P, Van Coster R, Smet J, Seneca S, Papadopoulos C, Kararizou E, Zafeiriou D. Papadimas GK, et al. Among authors: van coster r. Acta Myol. 2020 Jun 1;39(2):94-97. doi: 10.36185/2532-1900-012. eCollection 2020 Jun. Acta Myol. 2020. PMID: 32904881 Free PMC article.

9

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.

Van Coster R, Seneca S, Smet J, Van Hecke R, Gerlo E, Devreese B, Van Beeumen J, Leroy JG, De Meirleir L, Lissens W. Van Coster R, et al. Among authors: van hecke r, van beeumen j. Am J Med Genet A. 2003 Jul 1;120A(1):13-8. doi: 10.1002/ajmg.a.10202. Am J Med Genet A. 2003. PMID: 12794685

10

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.

De Meirleir L, Seneca S, Damis E, Sepulchre B, Hoorens A, Gerlo E, García Silva MT, Hernandez EM, Lissens W, Van Coster R. De Meirleir L, et al. Among authors: van coster r. Am J Med Genet A. 2003 Aug 30;121A(2):126-31. doi: 10.1002/ajmg.a.20171. Am J Med Genet A. 2003. PMID: 12910490

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