1. Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy;Brahe;Lancet,1995
2. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3;Brzustowski;Nature,1990
3. 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
4. Large scale deletions of the 5q13 region are specific to Werdnig–Hoffmann disease;Burlet;J. Med. Genet.,1996
5. Characterization of BTF2p44, a transcription factor localized to the SMA gene region;Carter;Am. J. Hum. Genet.,1995