Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Antzeko izenburuak

• Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
  nork: Rudnik-Schöneborn, S., et al.
  Argitaratua: (1996)
• Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
  nork: Rudnik-Schöneborn, S., et al.
  Argitaratua: (1994)
• Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
  nork: Wirth, B, et al.
  Argitaratua: (1999)
• De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
  nork: Wirth, B, et al.
  Argitaratua: (1997)
• Molecular genetics of autosomal recessive spinal muscular atrophy.
  nork: Rodrigues, N. R., et al.
  Argitaratua: (1996)