Rötig A - Search Results

1

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: rotig a. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.

2

Clinical aspects of mitochondrial disorders.

Munnich A, Rustin P, Rötig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, et al. Munnich A, et al. Among authors: rotig a. J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603. J Inherit Metab Dis. 1992. PMID: 1528005

3

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.

4

[Leber's optic neuropathy: new diagnostic prospects].

Pagot V, Malecaze F, Rötig A, Simorre V, Maillard P, Mathis A, Munnich A. Pagot V, et al. Among authors: rotig a. J Fr Ophtalmol. 1992;15(1):19-23. J Fr Ophtalmol. 1992. PMID: 1602101 French.

5

[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.

6

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.

7

[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].

Cormier V, Rötig A, Bonnefont JP, Mechinand F, Berthou C, Goulet O, Schmitz J, Blanche S, Vassaut A, Maier M, et al. Cormier V, et al. Among authors: rotig a. Arch Fr Pediatr. 1991 Mar;48(3):171-8. Arch Fr Pediatr. 1991. PMID: 2048956 French.

8

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

Chretien D, Bourgeron T, Rötig A, Munnich A, Rustin P. Chretien D, et al. Among authors: rotig a. Biochem Biophys Res Commun. 1990 Nov 30;173(1):26-33. doi: 10.1016/s0006-291x(05)81016-2. Biochem Biophys Res Commun. 1990. PMID: 2256918

9

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Pelet A, Rotig A, Bonaïti-Pellié C, Rabier D, Cormier V, Toumas E, Hentzen D, Saudubray JM, Munnich A. Pelet A, et al. Among authors: rotig a. Hum Genet. 1990 Jan;84(2):167-71. doi: 10.1007/BF00208934. Hum Genet. 1990. PMID: 2298453

10

[Respiratory chain diseases in infancy. Clinical presentation and diagnosis].

García Silva MT, Bonnefont JP, Rotig A, Romero N, Vassault A, Colonna M, Coude M, Rabier D, Munnich A, Fardeau M, et al. García Silva MT, et al. Among authors: rotig a. An Esp Pediatr. 1989 Nov;31(5):421-30. An Esp Pediatr. 1989. PMID: 2559637 Review. Spanish.

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