Associated Papers
Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease.
Bjelica B et al.
Journal of the Peripheral Nervous System : Jpns, 2026
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
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
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
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 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
Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.
Rudnik-Schöneborn S et al.
European Journal of Neurology, 2020
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype".
Rossi S et al.
Neuromuscular Disorders : Nmd, 2020
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
Shchagina OA et al.
Molecular Biology Reports, 2020
Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype.
Scarpini G et al.
Neuromuscular Disorders : Nmd, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Axonal neuropathy with neuromyotonia: there is a HINT.
Peeters K et al.
Brain : a Journal of Neurology, 2017
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
Jerath NU et al.
Muscle & Nerve, 2015
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
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
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