Author/Creator: Rustin, P - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Rustin, P

1. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Issue 2 (20th January 2006)

Authors:: Pasquier, L; Laugel, V; Lazaro, L; Dollfus, H; Journel, H; Edery, P; Goldenberg, A; Martin, D; Heron, D; Le Merrer, M; Rustin, P; Odent, S; Munnich, A; Sarasin, A; Cormier-Daire, V
Journal:: Archives of disease in childhood
Issue:: Volume 91:Issue 2(2006)
Page Start:: 178
Record Type:: Journal Article
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2. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. Issue 12 (18th December 2003)

Authors:: Lebon, S; Chol, M; Benit, P; Mugnier, C; Chretien, D; Giurgea, I; Kern, I; Girardin, E; Hertz-Pannier, L; de Lonlay, P; Rötig, A; Rustin, P; Munnich, A
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 12(2003)
Page Start:: 896
Record Type:: Journal Article
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3. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Issue 4 (1st April 2002)

Authors:: Hausse, A O; Aggoun, Y; Bonnet, D; Sidi, D; Munnich, A; Rötig, A; Rustin, P
Journal:: Heart
Issue:: Volume 87:Issue 4(2002)
Page Start:: 346
Record Type:: Journal Article
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4. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. Issue 1 (16th January 2004)

Authors:: Bénit, P; Slama, A; Cartault, F; Giurgea, I; Chretien, D; Lebon, S; Marsac, C; Munnich, A; Rötig, A; Rustin, P
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 1(2004)
Page Start:: 14
Record Type:: Journal Article
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5. 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. Issue 3 (1st March 2003)

Authors:: 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
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 3(2003)
Page Start:: 188
Record Type:: Journal Article
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