ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J. Yang, Tiina Jääskeläinen, Mirja Somer, Eija Siintola, Eveliina Jakkula, Mikko Muona, Saara Tegelberg, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Anders Paetau, Melody P. Lun, Johanna Hästbacka, Outi Kopra, Tarja Joensuu, Nicholas Katsanis, Maria K. LehtinenJorma J. Palvimo, Anna-Elina Lehesjoki

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalBrain : a journal of neurology
Volume140
Pages (from-to)1267-1279
Number of pages13
ISSN0006-8950
DOIs
Publication statusPublished - May 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • PEHO syndrome
  • progressive encephalopathy
  • ZNHIT3
  • cerebellum
  • THYROID-HORMONE RECEPTOR
  • SYNDROME PROGRESSIVE ENCEPHALOPATHY
  • OPTIC ATROPHY
  • SEVERE IMPAIRMENT
  • OXIDATIVE-STRESS
  • EDEMA
  • HYPSARRHYTHMIA
  • DIFFERENTIATION
  • HYPOARRHYTHMIA
  • COACTIVATOR
  • 3124 Neurology and psychiatry
  • 3112 Neurosciences

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