1. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I;Brahe;Hum Mol Genet,1996
2. When is a deletion not a deletion? When it is converted;Burghes;Am J Hum Genet,1997
3. Structure and organization of the human survival motor neuron (SMN) gene;Bürglen;Genomics,1996
4. Bürglen L, Patel S, Dubowitz V, Melki J, Muntoni A (1996b). A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. First Congress of the World Muscle Society 1996, Elsevier, S39
5. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease;Bürglen;Am J Hum Genet,1997