Publications

Hamilton EMC et al. UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology. 2017;89(17):1821-1828. PMID: 28931644.

Nahorski MS et al. Biallelic UFM1 and UFM1 mutations expand the essential role of ufmylation in brain development. Brain. 2018;141(7):1934-1945. PMID: 29868776.

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