Smet J - Search Results

1

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.

Vilain C, Rens C, Aeby A, Balériaux D, Van Bogaert P, Remiche G, Smet J, Van Coster R, Abramowicz M, Pirson I. Vilain C, et al. Among authors: smet j. Clin Genet. 2012 Sep;82(3):264-70. doi: 10.1111/j.1399-0004.2011.01743.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21696386

2

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R. Ajit Bolar N, et al. Among authors: smet j. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462291

3

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.

De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R. De Meirleir L, et al. Among authors: smet j. J Med Genet. 2004 Feb;41(2):120-4. doi: 10.1136/jmg.2003.012047. J Med Genet. 2004. PMID: 14757859 Free PMC article.

4

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.

Meulemans A, Lissens W, Van Coster R, De Meirleir L, Smet J, Nassogne MC, Liebaers I, Seneca S. Meulemans A, et al. Among authors: smet j. Eur J Paediatr Neurol. 2004;8(6):299-306. doi: 10.1016/j.ejpn.2004.07.006. Eur J Paediatr Neurol. 2004. PMID: 15542384

5

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: smet j. 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

6

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R. Debray FG, et al. Among authors: smet j. Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20. Mitochondrion. 2014. PMID: 24956508

7

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R. Debray FG, et al. Among authors: smet j. J Inherit Metab Dis. 2015 Nov;38(6):1147-53. doi: 10.1007/s10545-015-9857-1. Epub 2015 May 14. J Inherit Metab Dis. 2015. PMID: 25971455

8

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: smet j. 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.

9

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: smet j. 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.

10

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.

Hemelsoet DM, Vanlander AV, Smet J, Vantroys E, Acou M, Goethals I, Sante T, Seneca S, Menten B, Van Coster R. Hemelsoet DM, et al. Among authors: smet j. Neurol Genet. 2018 Nov 27;4(6):e298. doi: 10.1212/NXG.0000000000000298. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30569017 Free PMC article.

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