P Burlet

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Judith Melki, Sonia Abdelhak, P. Sheth et al. · Nature · 1990 · 397 citations

Genetic Analysis, Genetic Disorder, Genetics +6

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

Judith Melki, P. Sheth, Sonia Abdelhak et al. · The Lancet · 1990 · 272 citations

Spinal Cord Injury, Genetic Disorder, Genetics +6

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

P Burlet, Céline Huber, Solange Bertrandy et al. · Human Molecular Genetics · 1998 · 147 citations

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

Lydie Bürglen, Thierry Seroz, Pierre Miniou et al. · PubMed · 1997 · 99 citations

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

Lydie Bürglen, Jeanne Amiel, Louis Viollet et al. · Journal of Clinical Investigation · 1996 · 92 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +18