The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements.

Por Echaniz-Laguna, A, Miniou, P, Bartholdi, D, Melki, J
Publicado em 1999

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

Por Müller, B, Melki, J, Burlet, P, Clerget-Darpoux, F
Publicado em 1992

De novo deletions in spinal muscular atrophy: implications for genetic counselling.

Por Raclin, V, Veber, P S, Bürglen, L, Munnich, A, Melki, J
Publicado em 1997

Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes.

Por Baron-Delage, S., Abadie, A., Echaniz-Laguna, A., Melki, J., Beretta, L.
Publicado em 2000

Gene targeting restricted to mouse striated muscle lineage.

Por Miniou, P, Tiziano, D, Frugier, T, Roblot, N, Le Meur, M, Melki, J
Publicado em 1999

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Por Burlet, P, Bürglen, L, Clermont, O, Lefebvre, S, Viollet, L, Munnich, A, Melki, J
Publicado em 1996

A PstI polymorphism at the D5S39 locus

Por Abdelhak, S., Melki, J., Bachelot, M.F., Burlet, P., Sheth, P., Frézal, J., Munnich, A.
Publicado em 1990

Detection and measurement of PCR bias in quantitative methylation analysis of bisulphite-treated DNA.

Por Warnecke, P M, Stirzaker, C, Melki, J R, Millar, D S, Paul, C L, Clark, S J
Publicado em 1997

Identification of three ADA2 deficiency families with novel CECR1 mutations

Por Sarrabay, G, Insalaco, A, Uettwiller, F, Tieulié, N, Quartier-dit-maire, P, Melki, J, Touitou, I
Publicado no Pediatr Rheumatol Online J (2015)

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Por Hanash, A, Leguern, E, Birouk, N, Clermont, O, Pouget, J, Bouche, P, Munnich, A, Brice, A, Melki, J
Publicado em 1997

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.

Por Bürglen, L, Seroz, T, Miniou, P, Lefebvre, S, Burlet, P, Munnich, A, Pequignot, E V, Egly, J M, Melki, J
Publicado em 1997

Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

Por Boespflug-Tanguy, O., Mimault, C., Melki, J., Cavagna, A., Giraud, G., Pham Dinh, D., Dastugue, B., Dautigny, A.
Publicado em 1994

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

Por Melki, J, Abdelhak, S, Burlet, P, Raclin, V, Kaplan, J, Spiegel, R, Gilgenkrantz, S, Philip, N, Chauvet, M L, Dumez, Y
Publicado em 1992

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Por Bürglen, L, Amiel, J, Viollet, L, Lefebvre, S, Burlet, P, Clermont, O, Raclin, V, Landrieu, P, Verloes, A, Munnich, A, Melki, J
Publicado em 1996

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5

Por Sheth, P., Abdelhak, S., Bachelot, M. F., Burlet, P., Masset, M., Hillaire, D., Clerget-Darpoux, F., Frézal, J., Lathrop, G. M., Munnich, A., Melki, J.
Publicado em 1991

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

Por Wills, A -M., Cronin, S, Slowik, A, Kasperaviciute, D, Van Es, M A., Morahan, J M., Valdmanis, P N., Meininger, V, Melki, J, Shaw, C E., Rouleau, G A., Fisher, E M.C., Shaw, P J., Morrison, K E., Pamphlett, R, Van den Berg, L H., Figlewicz, D A., Andersen, P M., Al-Chalabi, A, Hardiman, O, Purcell, S, Landers, J E., Brown, R H.
Publicado em 2009