Brivet M - Search Results

1

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I. Barnerias C, et al. Among authors: brivet m. Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1. Dev Med Child Neurol. 2010. PMID: 20002125 Free article.

2

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.

Dey R, Mine M, Desguerre I, Slama A, Van Den Berghe L, Brivet M, Aral B, Marsac C. Dey R, et al. Among authors: brivet m. Ann Neurol. 2003 Feb;53(2):273-7. doi: 10.1002/ana.10478. Ann Neurol. 2003. PMID: 12557299

3

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M. Imbard A, et al. Among authors: brivet m. Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18. Mol Genet Metab. 2011. PMID: 21914562

4

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

Miné M, Brivet M, Touati G, Grabowski P, Abitbol M, Marsac C. Miné M, et al. Among authors: brivet m. J Biol Chem. 2003 Apr 4;278(14):11768-72. doi: 10.1074/jbc.M211106200. Epub 2003 Jan 27. J Biol Chem. 2003. PMID: 12551913 Free article.

5

Leigh's disease due to a new mutation in the PDHX gene.

Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H. Schiff M, et al. Among authors: brivet m. Ann Neurol. 2006 Apr;59(4):709-14. doi: 10.1002/ana.20818. Ann Neurol. 2006. PMID: 16566017

6

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.

Miné M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C. Miné M, et al. Among authors: brivet m. Mol Genet Metab. 2006 Sep-Oct;89(1-2):106-10. doi: 10.1016/j.ymgme.2006.06.002. Epub 2006 Jul 13. Mol Genet Metab. 2006. PMID: 16843025 Review.

7

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

Miné M, Chen JM, Brivet M, Desguerre I, Marchant D, de Lonlay P, Bernard A, Férec C, Abitbol M, Ricquier D, Marsac C. Miné M, et al. Among authors: brivet m. Hum Mutat. 2007 Feb;28(2):137-42. doi: 10.1002/humu.20449. Hum Mutat. 2007. PMID: 17152059

8

Respiratory chain defects may present only with hypoglycemia.

Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. Among authors: brivet m. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700

9

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M. Tajir M, et al. Among authors: brivet m. Eur J Med Genet. 2012 Oct;55(10):535-40. doi: 10.1016/j.ejmg.2012.06.006. Epub 2012 Jul 20. Eur J Med Genet. 2012. PMID: 22766002

10

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.

Nuoffer JM, de Lonlay P, Costa C, Roe CR, Chamoles N, Brivet M, Saudubray JM. Nuoffer JM, et al. Among authors: brivet m. Eur J Pediatr. 2000 Jan-Feb;159(1-2):82-5. doi: 10.1007/pl00013810. Eur J Pediatr. 2000. PMID: 10653336 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

101 results

Search Page

Filters