Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy

This publication has 31 references indexed in Scilit:

• An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)
  European Journal of Human Genetics, 2000
• The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
  Human Molecular Genetics, 2000
• Spinal Muscular Atrophy
  Neuroepidemiology, 1999
• Human Transformer-2-beta Gene (SFRS10): Complete Nucleotide Sequence, Chromosomal Localization, and Generation of a Tissue-Specific Isoform
  Genomics, 1998
• SMN oligomerization defect correlates with spinal muscular atrophy severity
  Nature Genetics, 1998
• Correlation between severity and SMN protein level in spinal muscular atrophy
  Nature Genetics, 1997
• Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number
  American Journal of Human Genetics, 1997
• Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene
  American Journal of Medical Genetics, 1995
• Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
  Human Molecular Genetics, 1995
• Identification and characterization of a spinal muscular atrophy-determining gene
  Cell, 1995