Associated Papers
Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.
Jiang N et al.
Frontiers in Neurology, 2023
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.
Wang Z et al.
European Journal of Medical Genetics, 2019
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
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M et al.
Nature Genetics, 2012
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