Ponsot G - Search Results

1

[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy].

Marsac C, Degoul F, Bonne G, Romero N, Nelson I, Fardeau M, François D, Ponsot G, Harpey JP, Eymard B, et al. Marsac C, et al. Among authors: ponsot g. Rev Neurol (Paris). 1991;147(6-7):462-6. Rev Neurol (Paris). 1991. PMID: 1962051 French.

2

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

Boitier E, Degoul F, Desguerre I, Charpentier C, François D, Ponsot G, Diry M, Rustin P, Marsac C. Boitier E, et al. Among authors: ponsot g. J Neurol Sci. 1998;156(1):41-6. doi: 10.1016/s0022-510x(98)00006-9. J Neurol Sci. 1998. PMID: 9559985

3

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.

Degoul F, Nelson I, Lestienne P, Francois D, Romero N, Duboc D, Eymard B, Fardeau M, Ponsot G, Paturneau-Jouas M, et al. Degoul F, et al. Among authors: ponsot g. J Neurol Sci. 1991 Feb;101(2):168-77. doi: 10.1016/0022-510x(91)90042-6. J Neurol Sci. 1991. PMID: 1851820

4

Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.

Degoul F, Nelson I, Amselem S, Romero N, Obermaier-Kusser B, Ponsot G, Marsac C, Lestienne P. Degoul F, et al. Among authors: ponsot g. Nucleic Acids Res. 1991 Feb 11;19(3):493-6. doi: 10.1093/nar/19.3.493. Nucleic Acids Res. 1991. PMID: 2011523 Free PMC article.

5

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.

Nelson I, Degoul F, Obermaier-Kusser B, Romero N, Borrone C, Marsac C, Vayssiere JL, Gerbitz K, Fardeau M, Ponsot G, Lestienne P. Nelson I, et al. Among authors: ponsot g. Nucleic Acids Res. 1989 Oct 25;17(20):8117-24. doi: 10.1093/nar/17.20.8117. Nucleic Acids Res. 1989. PMID: 2813058 Free PMC article.

6

Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation.

Degoul F, Diry M, Rodriguez D, Robain O, Francois D, Ponsot G, Marsac C, Desguerre I. Degoul F, et al. Among authors: ponsot g. J Inherit Metab Dis. 1995;18(6):682-8. doi: 10.1007/BF02436757. J Inherit Metab Dis. 1995. PMID: 8750605

7

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

Degoul F, François D, Diry M, Ponsot G, Desguerre I, Héron B, Marsac C, Moutard ML. Degoul F, et al. Among authors: ponsot g. J Inherit Metab Dis. 1997 Mar;20(1):49-53. doi: 10.1023/a:1005357506614. J Inherit Metab Dis. 1997. PMID: 9061567

8

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations.

Nelson I, Bonne G, Degoul F, Marsac C, Ponsot G, Lestienne P. Nelson I, et al. Among authors: ponsot g. Neuropediatrics. 1992 Aug;23(4):199-205. doi: 10.1055/s-2008-1071341. Neuropediatrics. 1992. PMID: 1407387

9

Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.

Birch-Machin MA, Marsac C, Ponsot G, Parfait B, Taylor RW, Rustin P, Munnich A. Birch-Machin MA, et al. Among authors: ponsot g. Biochem Biophys Res Commun. 1996 Mar 7;220(1):57-62. doi: 10.1006/bbrc.1996.0356. Biochem Biophys Res Commun. 1996. PMID: 8602857

10

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

Marsac C, Benelli C, Desguerre I, Diry M, Fouque F, De Meirleir L, Ponsot G, Seneca S, Poggi F, Saudubray JM, Zabot MT, Fontan D, Lissens W. Marsac C, et al. Among authors: ponsot g. Hum Genet. 1997 Jun;99(6):785-92. doi: 10.1007/s004390050449. Hum Genet. 1997. PMID: 9187674

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