Ogier de Baulny H - Search Results

1

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

Kremer LS, L'hermitte-Stead C, Lesimple P, Gilleron M, Filaut S, Jardel C, Haack TB, Strom TM, Meitinger T, Azzouz H, Tebib N, Ogier de Baulny H, Touati G, Prokisch H, Lombès A. Kremer LS, et al. Among authors: ogier de baulny h. J Hepatol. 2016 Aug;65(2):377-85. doi: 10.1016/j.jhep.2016.04.017. Epub 2016 May 2. J Hepatol. 2016. PMID: 27151179 Free PMC article.

2

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, Dorboz I, Gilleron M, Goetzman ES, Gaignard P, Slama A, Elmaleh-Bergès M, Romero NB, Rustin P, Ogier de Baulny H, Paulo JA, Harper JW, Schiff M. Guarani V, et al. Among authors: ogier de baulny h. Elife. 2016 Sep 13;5:e17163. doi: 10.7554/eLife.17163. Elife. 2016. PMID: 27623147 Free PMC article.

3

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

Schiff M, Ogier de Baulny H, Lombès A. Schiff M, et al. Among authors: ogier de baulny h. Semin Fetal Neonatal Med. 2011 Aug;16(4):216-21. doi: 10.1016/j.siny.2011.04.002. Epub 2011 May 24. Semin Fetal Neonatal Med. 2011. PMID: 21606011 Review.

4

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

Auré K, Ogier de Baulny H, Laforêt P, Jardel C, Eymard B, Lombès A. Auré K, et al. Among authors: ogier de baulny h. Brain. 2007 Jun;130(Pt 6):1516-24. doi: 10.1093/brain/awm067. Epub 2007 Apr 17. Brain. 2007. PMID: 17439982

5

In vivo functional investigations of lactic acid in patients with respiratory chain disorders.

Touati G, Rigal O, Lombès A, Frachon P, Giraud M, Ogier de Baulny H. Touati G, et al. Among authors: ogier de baulny h. Arch Dis Child. 1997 Jan;76(1):16-21. doi: 10.1136/adc.76.1.16. Arch Dis Child. 1997. PMID: 9059154 Free PMC article.

6

Morphological studies of skeletal muscle in lactic acidosis.

Romero NB, Lombès A, Touati G, Rigal O, Frachon P, Cheval MA, Giraud M, Possekel S, Fardeau M, Ogier de Baulny H. Romero NB, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 1996;19(4):528-34. doi: 10.1007/BF01799113. J Inherit Metab Dis. 1996. PMID: 8884576 Review.

7

Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

Lombes A, Romero NB, Touati G, Frachon P, Cheval MA, Giraud M, Simon D, Ogier de Baulny H. Lombes A, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 1996;19(3):286-95. doi: 10.1007/BF01799256. J Inherit Metab Dis. 1996. PMID: 8803770

8

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

Ogier de Baulny H, Slama A, Touati G, Turnbull DM, Pourfarzam M, Brivet M. Ogier de Baulny H, et al. J Pediatr. 1995 Nov;127(5):723-8. doi: 10.1016/s0022-3476(95)70160-5. J Pediatr. 1995. PMID: 7472823

9

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

Pagniez-Mammeri H, Lombes A, Brivet M, Ogier-de Baulny H, Landrieu P, Legrand A, Slama A. Pagniez-Mammeri H, et al. Among authors: ogier de baulny h. Mol Genet Metab. 2009 Apr;96(4):196-200. doi: 10.1016/j.ymgme.2008.12.003. Epub 2009 Jan 22. Mol Genet Metab. 2009. PMID: 19167255

10

Functional characterization of novel mutations in the human cytochrome b gene.

Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforêt P, Jardel C, Godinot C, Lombès A. Legros F, et al. Among authors: ogier de baulny h. Eur J Hum Genet. 2001 Jul;9(7):510-8. doi: 10.1038/sj.ejhg.5200678. Eur J Hum Genet. 2001. PMID: 11464242

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

65 results

Search Page