Associated Papers
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
Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy.
Meng L et al.
Neuromuscular Disorders : Nmd, 2018
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