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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

187 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
[Diagnostic approach to metabolic myopathies].
Cuisset JM, Cuvellier JC, De Sèze C, Lombes A, Matran R, Fontaine M, Vallée L. Cuisset JM, et al. Among authors: lombes a. Arch Pediatr. 2000 May;7 Suppl 2:120s-121s. doi: 10.1016/s0929-693x(00)80006-8. Arch Pediatr. 2000. PMID: 10904679 French. No abstract available.
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.
Manouvrier S, Rötig A, Hannebique G, Gheerbrandt JD, Royer-Legrain G, Munnich A, Parent M, Grünfeld JP, Largilliere C, Lombes A, et al. Manouvrier S, et al. Among authors: lombes a. J Med Genet. 1995 Aug;32(8):654-6. doi: 10.1136/jmg.32.8.654. J Med Genet. 1995. PMID: 7473662 Free PMC article.
[Clinical variability and diagnosis steps in childhood mitochondrial disease].
Mercier S, Josselin de Wasch M, Labarthe F, Jardel C, Lombès A, Munnich A, Toutain A, Nivet H, Saliba E, Chantepie A, Castelnau P. Mercier S, et al. Among authors: lombes a. Arch Pediatr. 2009 Apr;16(4):322-30. doi: 10.1016/j.arcped.2008.12.024. Epub 2009 Feb 23. Arch Pediatr. 2009. PMID: 19233626 French.
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.
Karicheva OZ, Kolesnikova OA, Schirtz T, Vysokikh MY, Mager-Heckel AM, Lombès A, Boucheham A, Krasheninnikov IA, Martin RP, Entelis N, Tarassov I. Karicheva OZ, et al. Among authors: lombes a. Nucleic Acids Res. 2011 Oct;39(18):8173-86. doi: 10.1093/nar/gkr546. Epub 2011 Jun 30. Nucleic Acids Res. 2011. PMID: 21724600 Free PMC article.
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Fayssoil A, Laforêt P, Bougouin W, Jardel C, Lombès A, Bécane HM, Berber N, Stojkovic T, Béhin A, Eymard B, Duboc D, Wahbi K. Fayssoil A, et al. Among authors: lombes a. Eur J Neurol. 2017 Feb;24(2):255-261. doi: 10.1111/ene.13176. Epub 2016 Nov 21. Eur J Neurol. 2017. PMID: 27869334
187 results