Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Samankaltaisia teoksia

• Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
  Tekijä: Glascock, Jacqueline, et al.
  Julkaistu: (2018)
• Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
  Tekijä: Crawford, Thomas O., et al.
  Julkaistu: (2012)
• Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
  Tekijä: Parsons, D W, et al.
  Julkaistu: (1998)
• SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR
  Tekijä: Stabley, Deborah L, et al.
  Julkaistu: (2015)
• The motor neuron response to SMN1 deficiency in spinal muscular atrophy
  Tekijä: Kang, Peter B., et al.
  Julkaistu: (2014)