Associated Papers
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Malcorps M et al.
Orphanet Journal of Rare Diseases, 2022
A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.
Xu L et al.
Acta Neurologica Belgica, 2022
HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
Amor-Barris S et al.
Orphanet Journal of Rare Diseases, 2021
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
Shchagina OA et al.
Molecular Biology Reports, 2020
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