Munnich A - Search Results

1

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. Among authors: munnich a. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.

2

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.

Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: munnich a. Biochem Biophys Res Commun. 1992 Jul 15;186(1):16-23. doi: 10.1016/s0006-291x(05)80769-7. Biochem Biophys Res Commun. 1992. PMID: 1321601

3

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.

Bourgeron T, Chrétien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: munnich a. Prenat Diagn. 1992 Jun;12(6):548-9. doi: 10.1002/pd.1970120614. Prenat Diagn. 1992. PMID: 1325051 No abstract available.

4

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: munnich a. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

5

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

Burgeois M, Goutieres F, Chretien D, Rustin P, Munnich A, Aicardi J. Burgeois M, et al. Among authors: munnich a. Brain Dev. 1992 Nov;14(6):404-8. doi: 10.1016/s0387-7604(12)80349-4. Brain Dev. 1992. PMID: 1492653

6

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. J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603. J Inherit Metab Dis. 1992. PMID: 1528005

7

[Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy].

Sidi D, Le Bidois J, Piéchaud JF, Da Cruz E, Marchal C, Gournay V, Kachaner J, Rustin P, Chrétien D, Munnich A. Sidi D, et al. Among authors: munnich a. Arch Mal Coeur Vaiss. 1992 May;85(5):541-6. Arch Mal Coeur Vaiss. 1992. PMID: 1530392 French.

8

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. Among authors: munnich a. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

9

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Lyonnet S, et al. Among authors: munnich a. J Med Genet. 1992 Jan;29(1):68-9. doi: 10.1136/jmg.29.1.68. J Med Genet. 1992. PMID: 1552551 Free PMC article.

10

[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: munnich a. J Fr Ophtalmol. 1992;15(1):19-23. J Fr Ophtalmol. 1992. PMID: 1602101 French.

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