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
Structure and Functional Characterization of Human Histidine Triad Nucleotide-Binding Protein 1 Mutations Associated with Inherited Axonal Neuropathy with Neuromyotonia.
Shah RM et al.
Journal of Molecular Biology, 2018
Axonal neuropathy with neuromyotonia: there is a HINT.
Peeters K et al.
Brain : a Journal of Neurology, 2017
Lack of neuropathy-related phenotypes in hint1 knockout mice.
Seburn KL et al.
Journal of Neuropathology and Experimental Neurology, 2014
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M et al.
Nature Genetics, 2012
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