Rustin P - Search Results

1

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).

Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A. Rötig A, et al. Among authors: rustin p. J Inherit Metab Dis. 1993;16(3):527-30. doi: 10.1007/BF00711672. J Inherit Metab Dis. 1993. PMID: 7609443 No abstract available.

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

3

The investigation of respiratory chain disorders in heart using endomyocardial biopsies.

Rustin P, Lebidois J, Chretien D, Bourgeron T, Piechaud JF, Rötig A, Sidi D, Munnich A. Rustin P, et al. J Inherit Metab Dis. 1993;16(3):541-4. doi: 10.1007/BF00711676. J Inherit Metab Dis. 1993. PMID: 7609447 Clinical Trial. No abstract available.

4

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A. Rötig A, et al. Among authors: rustin p. J Clin Invest. 1993 Mar;91(3):1095-8. doi: 10.1172/JCI116267. J Clin Invest. 1993. PMID: 8383698 Free PMC article.

5

Clinical presentation of mitochondrial disorders in childhood.

Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, Rustin P. Munnich A, et al. Among authors: rustin p. J Inherit Metab Dis. 1996;19(4):521-7. doi: 10.1007/BF01799112. J Inherit Metab Dis. 1996. PMID: 8884575 Review.

6

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

Rabier D, Diry C, Rotig A, Rustin P, Heron B, Bardet J, Parvy P, Ponsot G, Marsac C, Saudubray JM, Munnich A, Kamoun P. Rabier D, et al. Among authors: rustin p. J Inherit Metab Dis. 1998 Jun;21(3):216-9. doi: 10.1023/a:1005391300203. J Inherit Metab Dis. 1998. PMID: 9686360 No abstract available.

7

Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.

Rustin P, Munnich A, Rötig A. Rustin P, et al. Methods Enzymol. 2004;382:81-8. doi: 10.1016/S0076-6879(04)82005-6. Methods Enzymol. 2004. PMID: 15047097 Review. No abstract available.

8

[Mitochondrial disorders].

Munnich A, de Lonlay P, Rötig A, Rustin P. Munnich A, et al. Among authors: rustin p. Bull Acad Natl Med. 2009 Jan;193(1):19-41; discussion 41-3. Bull Acad Natl Med. 2009. PMID: 19718979 French.

9

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: rustin p. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

10

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, et al. Rötig A, et al. Among authors: rustin p. J Clin Invest. 1990 Nov;86(5):1601-8. doi: 10.1172/JCI114881. J Clin Invest. 1990. PMID: 2243133 Free PMC article.

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