Associated Papers
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
The Iberian Roma Population Variant Server (IRPVS).
Mavillard F et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
The most common European HINT1 neuropathy variant phenotype and its case studies.
Rozevska M et al.
Frontiers in Neurology, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 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
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
A Crystal Structure Based Guide to the Design of Human Histidine Triad Nucleotide Binding Protein 1 (hHint1) Activated ProTides.
Maize KM et al.
Molecular Pharmaceutics, 2017
Post-translational modification of HINT1 mediates activation of MITF transcriptional activity in human melanoma cells.
Motzik A et al.
Oncogene, 2017
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
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Zimoń M et al.
Neurogenetics, 2015
Lack of neuropathy-related phenotypes in hint1 knockout mice.
Seburn KL et al.
Journal of Neuropathology and Experimental Neurology, 2014
Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.
Caetano JS et al.
Pediatric Neurology, 2014
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M et al.
Nature Genetics, 2012