Serre V - Search Results

1

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP. Monnot S, et al. Among authors: serre v. Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908. Hum Mutat. 2009. PMID: 19306334

2

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. Mollet J, et al. Among authors: serre v. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022. Am J Hum Genet. 2008. PMID: 18319072 Free PMC article.

3

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS. Brahimi N, et al. Among authors: serre v. Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27. Mol Genet Metab. 2009. PMID: 19394258

4

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.

Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, Steffann J, Pauchard JY, Munnich A, Bonnefont JP, Rötig A. Lebon S, et al. Among authors: serre v. Mol Genet Metab. 2007 Sep-Oct;92(1-2):104-8. doi: 10.1016/j.ymgme.2007.05.010. Epub 2007 Jun 28. Mol Genet Metab. 2007. PMID: 17604671

5

Thanatophoric dysplasia caused by double missense FGFR3 mutations.

Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L. Pannier S, et al. Among authors: serre v. Am J Med Genet A. 2009 Jun;149A(6):1296-301. doi: 10.1002/ajmg.a.32880. Am J Med Genet A. 2009. PMID: 19449430

6

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A. Galmiche L, et al. Among authors: serre v. Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14. Hum Mutat. 2011. PMID: 21786366

7

Toward genotype phenotype correlations in GFM1 mutations.

Galmiche L, Serre V, Beinat M, Zossou R, Assouline Z, Lebre AS, Chretien F, Shenhav R, Zeharia A, Saada A, Vedrenne V, Boddaert N, de Lonlay P, Rio M, Munnich A, Rötig A. Galmiche L, et al. Among authors: serre v. Mitochondrion. 2012 Mar;12(2):242-7. doi: 10.1016/j.mito.2011.09.007. Epub 2011 Oct 1. Mitochondrion. 2012. PMID: 21986555

8

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T. Thomas S, et al. Among authors: serre v. Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138100 Free PMC article.

9

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Valayannopoulos V, Haudry C, Serre V, Barth M, Boddaert N, Arnoux JB, Cormier-Daire V, Rio M, Rabier D, Vassault A, Munnich A, Bonnefont JP, de Lonlay P, Rötig A, Lebre AS. Valayannopoulos V, et al. Among authors: serre v. Mitochondrion. 2010 Jun;10(4):335-41. doi: 10.1016/j.mito.2010.02.006. Epub 2010 Mar 1. Mitochondrion. 2010. PMID: 20197121

10

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. Among authors: serre v. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941

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