Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Zhongbo ChenEmil K GustavssonHannah MacphersonClaire AndersonChris ClarksonClarissa RoccaEleanor SelfPilar Alvarez JerezAnnarita ScardamagliaDavid PellerinKylie MontgomeryJasmaine LeeDelia GagliardiHuihui Luonull nullJohn HardyJames PolkeAndrew B SingletonCornelis BlauwendraatKatherine D MathewsArianna TucciYing-Hui FuHenry HouldenMina RytenLouis J Ptáček

Published in: Movement disorders : official journal of the Movement Disorder Society (2024)

These findings support the utility of adaptive long-read sequencing as a powerful tool to decipher causative structural variation in unsolved cases of inherited neurological disease. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

single cell
single molecule
early onset
randomized controlled trial
systematic review
cerebral ischemia
brain injury
blood brain barrier
subarachnoid hemorrhage