Associated Papers
The most common European HINT1 neuropathy variant phenotype and its case studies.
Rozevska M et al.
Frontiers in Neurology, 2023
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
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
Gentile L et al.
Brain Sciences, 2021
HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
Kontogeorgiou Z et al.
Journal of the Peripheral Nervous System : Jpns, 2021
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
de Aguiar Coelho Silva Madeiro B et al.
Molecular Genetics & Genomic Medicine, 2021
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
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
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.
Horga A et al.
Journal of Neurology, 2015
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.
Laššuthová P et al.
Neurogenetics, 2015
Lack of neuropathy-related phenotypes in hint1 knockout mice.
Seburn KL et al.
Journal of Neuropathology and Experimental Neurology, 2014
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.
Zhao H et al.
European Journal of Human Genetics : Ejhg, 2014
HINT1 mutations define a novel disease entity - autosomal recessive axonal neuropathy with neuromyotonia.
Aminkeng F
Clinical Genetics, 2013
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M et al.
Nature Genetics, 2012