244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands: Neuromuscular Disorders

T. Dangouloff, A. Burghes, E.F. Tizzano, L. Servais, E. Bertini, F. Boemer, M. Hiligsmann, W. Mueller-Felber, D. Tiziano, P. Young, O. Germanenko, M. de Lemus, L. Ouillade, K. Rucinski, K. Stephenson, W. Farwell, K. Gorni, F. Hoffmann, M. Hjort, I. KausarNBS SMA Study Group

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)93-103
Number of pages11
JournalNeuromuscular Disord.
Volume30
Issue number1
DOIs
Publication statusPublished - 2020

Keywords

  • Newborn screening
  • Pre-symptomatic
  • Spinal muscular atrophy
  • Conference Paper
  • copy number variation
  • cytoskeleton
  • DNA extraction
  • genetic screening
  • genetic variability
  • genotype
  • health care need
  • homozygosity
  • human
  • muscle action potential
  • Netherlands
  • neurofilament
  • newborn screening
  • phenotype
  • priority journal
  • quality of life
  • real time polymerase chain reaction
  • spinal muscular atrophy
  • workshop
  • newborn
  • organization
  • Congresses as Topic
  • Humans
  • Infant, Newborn
  • Muscular Atrophy, Spinal
  • Neonatal Screening

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