Rötig A - Search Results

1

Modeling of antigenomic therapy of mitochondrial diseases by mitochondrially addressed RNA targeting a pathogenic point mutation in mitochondrial DNA.

Tonin Y, Heckel AM, Vysokikh M, Dovydenko I, Meschaninova M, Rötig A, Munnich A, Venyaminova A, Tarassov I, Entelis N. Tonin Y, et al. Among authors: rotig a. J Biol Chem. 2014 May 9;289(19):13323-34. doi: 10.1074/jbc.M113.528968. Epub 2014 Apr 1. J Biol Chem. 2014. PMID: 24692550 Free PMC article.

2

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

3

[Metabolic, enzymological and molecular assessment of mitochondrial cytopathies].

Munnich A, Rotig A. Munnich A, et al. Among authors: rotig a. Pediatrie. 1991;46(6-7):509-14. Pediatrie. 1991. PMID: 1664083 French.

4

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A. Rötig A, et al. Genomics. 1991 Jun;10(2):502-4. doi: 10.1016/0888-7543(91)90342-c. Genomics. 1991. PMID: 1712754

5

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: rotig a. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.

6

Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Cormier V, Rötig A, Quartino AR, Forni GL, Cerone R, Maier M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: rotig a. J Pediatr. 1990 Oct;117(4):599-602. doi: 10.1016/s0022-3476(05)80698-5. J Pediatr. 1990. PMID: 2213388 No abstract available.

7

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

Rotig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A. Rotig A, et al. Lancet. 1989 Apr 22;1(8643):902-3. doi: 10.1016/s0140-6736(89)92897-3. Lancet. 1989. PMID: 2564980 No abstract available.

8

Deletion of blood mitochondrial DNA in pancytopenia.

Rötig A, Colonna M, Blanche S, Fischer A, Le Deist F, Frezal J, Saudubray JM, Munnich A. Rötig A, et al. Lancet. 1988 Sep 3;2(8610):567-8. doi: 10.1016/s0140-6736(88)92687-6. Lancet. 1988. PMID: 2900946 No abstract available.

9

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: rotig 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.

10

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.

Rötig A, Bourgeron T, Rustin P, Munnich A. Rötig A, et al. Muscle Nerve Suppl. 1995;3:S159-64. doi: 10.1002/mus.880181431. Muscle Nerve Suppl. 1995. PMID: 7541513

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