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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.

Marianthi BrezaJennifer HirstViorica ChelbanGuillaume BanneauLaurène TissierBophara KolThomas BourinarisSamia A SaidYann PéréonAnna HeinzmannRabab DebsRaul Juntas-MoralesVictoria G MartinezJean P CamdessancheClarisse Scherer-GagouJean-Médard ZolaAlkyoni Athanasiou-FragkouliStephanie EfthymiouGeorge VavougiosGeorgios VelonakisMaria StamelouJohn TzartosConstantin PotagasThomas ZambelisCaterina MariottiCraig BlackstoneJana VandrovcovaTheodoros MavridisChrisoula KartanouLeonidas StefanisNicholas WoodGeorgia KaradimaEric LeGuernGeorgios KoutsisHenry HouldenGiovanni Stevanin
Published in: Movement disorders : official journal of the Movement Disorder Society (2021)
Keyphrases
  • heat shock protein
  • cerebral palsy
  • transcription factor
  • heat shock
  • heat stress
  • botulinum toxin
  • oxidative stress
  • drug induced