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
Human HINT1 Mutant Proteins that Cause Axonal Motor Neuropathy Exhibit Anomalous Interactions with Partner Proteins.
Cortés-Montero E et al.
Molecular Neurobiology, 2021
HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
Amor-Barris S et al.
Orphanet Journal of Rare Diseases, 2021
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.
Wang Z et al.
European Journal of Medical Genetics, 2019
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