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Displaying 7 results.
    • Speech
    Frataxin gene expansion causes aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
    Rotig, A de Lonlay, P Chretien, D Foury, Françoise[UCL] Koenig, M. Sidi, D Munnich, A. Rustin, P (1998) —
    • Journal article
    Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
    Rotig, A deLonlay, P Chretien, D Foury, Françoise[UCL] Koenig, M. Sidi, D Munnich, A. Rustin, P (1997) Nature Genetics — Vol. 17, no. 2, p. 215-217 (1997)
    • Journal article
    Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
    Holder-Espinasse, M Marie, Sabine[UCL] Bourrouillou, G Ceballos-Picot, I Nassogne, Marie-Cécile[UCL] Faivre, L. Amiel, J Munnich, A. Vincent, Marie-Françoise[UCL] Cormier-Daire, V (2002) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 39, no. 6, p. 440-442 (2002)
    • Journal article
    Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency.
    Goncalves, I Hermans, Dominique[UCL] Chretien, D Rustin, P Munnich, A. Saudubray, J M Van Hoof, François[UCL] Reding, Raymond[UCL] de Ville de Goyet, J Otte, Jean-Bernard[UCL] (1995) Journal of hepatology — Vol. 23, no. 3, p. 290-4 (1995)
    • Journal article
    Differential-effects of Glucose and Fructose On Liver L-type Pyruvate-kinase Gene-expression Invivo
    Munnich, A. Lyonnet, S. Chauvet, D. Van Schaftingen, Emile[UCL] Kahn, A. (1987) Journal of Biological Chemistry — Vol. 262, no. 35, p. 17065-17071 (1987)
    • Journal article
    Gene for Chronic Proximal Spinal Muscular Atrophies Maps To Chromosome-5q
    Melki, J. Abdelhak, S. Sheth, P. Bachelot, MF. Burlet, P. Marcadet, A. Aicardi, J. Barois, A. Carriere, JP. Fardeau, M. Fontan, D. Ponsot, G. Billette, T. Angelini, C. Barbosa, C. Ferrière, G. Lanzi, G. Ottolini, A. Babron, MC. Cohen, D. Hanauer, A. Clergetdarpoux, F. Lathrop, M. Munnich, A. Frezal, J. (1990) Nature : international weekly journal of science — Vol. 344, no. 6268, p. 767-768 (1990)
    • Journal article
    The Gene for Hereditary Multiple Exostoses Does Not Map To the Langer-giedion Region (8q23-q24)
    Lemerrer, M. Benothmane, K. Stanescu, V. Lyonnet, S. Vanmaldergem, L. Royer, G. Munnich, A. Maroteaux, P. (1992) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 29, no. 10, p. 713-715 (1992)