NFASC

Publications

Efthymiou S et al. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. Brain. 2019;142(10):2948-2964. PMID: 31501903.

Karakaya M et al. Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein. Brain. 2019;142(10):2895-2897. PMID: 31560060.

Monfrini E et al. Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. Parkinsonism & Related Disorders. 2019;63:66-72. PMID: 30850329.

Smigiel R et al. Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. Human molecular genetics. 2018;27(21):3669-3674. PMID: 30124836.