Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

357 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
Pontoizeau C, Simon-Sola M, Gaborit C, Nguyen V, Rotaru I, Tual N, Colella P, Girard M, Biferi MG, Arnoux JB, Rötig A, Ottolenghi C, de Lonlay P, Mingozzi F, Cavazzana M, Schiff M. Pontoizeau C, et al. Among authors: de lonlay p. Nat Commun. 2022 Jun 7;13(1):3278. doi: 10.1038/s41467-022-30880-w. Nat Commun. 2022. PMID: 35672312 Free PMC article.
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Among authors: de lonlay p. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
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: de lonlay p, de baulny ho. 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.
[Mitochondrial disorders].
Munnich A, de Lonlay P, Rötig A, Rustin P. Munnich A, et al. Among authors: de lonlay p. Bull Acad Natl Med. 2009 Jan;193(1):19-41; discussion 41-3. Bull Acad Natl Med. 2009. PMID: 19718979 French.
Epileptic phenotypes in children with respiratory chain disorders.
El Sabbagh S, Lebre AS, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rötig A, Dulac O, Munnich A, Desguerre I. El Sabbagh S, et al. Epilepsia. 2010 Jul;51(7):1225-35. doi: 10.1111/j.1528-1167.2009.02504.x. Epub 2010 Feb 19. Epilepsia. 2010. PMID: 20196775 Free article.
Congenital hyperinsulinism.
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C. Arnoux JB, et al. Among authors: de lonlay p. Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13. Early Hum Dev. 2010. PMID: 20550977 Review.
357 results