Podar IV, Gutmann DAP, Harmuth F, Haack TB, et al. First case of adult-onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual. Eur J Neurol 2023 Jun 4. doi: 10.1111/ene.15905.
PMID: 37271829