C Marsac
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Explore the profile of C Marsac including associated specialties, affiliations and a list of published articles.
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91
Citations
975
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Recent Articles
1.
Degoul F, Diry M, Viader F, Boitier E, Marsac C, Eymard B, et al.
Eur J Neurol
. 2013 Nov;
2(6):573-9.
PMID: 24283786
We have identified the A3243G heteroplasmic point mutation in mitochondrial DNA from a female patient with headache as the main clinical feature. The mitochondrial origin of her disease was only...
2.
Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, Ogier de Baulny H, et al.
Mol Genet Metab
. 2011 Sep;
104(4):507-16.
PMID: 21914562
Background: Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1α subunit (PDHA1)...
3.
Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, et al.
J Med Genet
. 2007 Feb;
44(3):e70.
PMID: 17287362
Purpose: The mutations responsible for Best vitelliform macular dystrophy (BVMD) are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein named bestrophin-1 (hBest1) which is a...
4.
Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, et al.
J Med Genet
. 2004 Jan;
41(1):14-7.
PMID: 14729820
Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits...
5.
Desguerre I, Pinton F, Nabbout R, Moutard M, Nguyen S, Marsac C, et al.
Neuropediatrics
. 2003 Nov;
34(5):265-9.
PMID: 14598233
Purpose: To report three cases of infantile spasms (IS) with an abnormal magnetic resonance imaging signal in the basal ganglia (Leigh-like syndrome), due to T8993G mt DNA mutation. Patients And...
6.
Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, et al.
Ophthalmic Genet
. 2002 Sep;
23(3):167-74.
PMID: 12324875
We identified three novel VMD2 mutations in patients with Best's macular dystrophy. DHPLC analysis of the 11 VMD2 exons revealed abnormal profiles in exon 8. Direct sequencing showed that these...
7.
Benelli C, Fouque F, Redonnet-Vernhet I, Malgat M, Fontan D, Marsac C, et al.
J Inherit Metab Dis
. 2002 Sep;
25(4):325-7.
PMID: 12227466
We identified a new Y243S mutation in the X-linked E1 alpha-PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even...
8.
Djavaheri-Mergny M, Marsac C, Maziere C, Santus R, Michel L, Dubertret L, et al.
Free Radic Res
. 2001 Nov;
34(6):583-94.
PMID: 11697034
UV-A irradiation caused a dose-dependent decrease in cellular oxygen consumption (56%) and ATP content (65%) in human NCTC 2544 keratinocytes, one hour after treatment. This effect was partially reversed by...
9.
Pequignot M, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, et al.
Hum Mutat
. 2001 Apr;
17(5):374-81.
PMID: 11317352
Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia...
10.
Camand O, Marchant D, Boutboul S, Pequignot M, Odent S, Dollfus H, et al.
Hum Mutat
. 2001 Apr;
17(4):352.
PMID: 11295837
Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by the reduction or the absence of tyrosinase (TYR) activity in melanocytes of the skin, hair and eyes. Here...