POLR3A variants with striatal involvement and extrapyramidal movement disorder

Inga Harting, Murtadha Al-Saady, Ingeborg Kraegeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Genevieve Bernard, Richard Huntsman, Rosalina M. L. van Spaendonk, Maaike Vreeburg, Agusti Rodriguez-Palmero, Aurora Pujol, Marjo S. van der Knaap, Petra J. W. Pouwels, Nicole I. Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)121-133
Number of pages13
JournalNeurogenetics
Volume21
Issue number2
DOIs
Publication statusPublished - Apr 2020

Keywords

  • POLR3A
  • MRI
  • Basal ganglia
  • Striatum
  • Superior cerebellar peduncle
  • Inferior cerebellar peduncle
  • Brainstem
  • Hypomyelination
  • 4H LEUKODYSTROPHY
  • POLR3-RELATED LEUKODYSTROPHY
  • DIFFUSE HYPOMYELINATION
  • RECESSIVE MUTATIONS
  • CLINICAL SPECTRUM
  • CATALYTIC SUBUNIT
  • PHENOTYPE

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