ArticleNature genetics2012
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.
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Who cites it
64 citing papers in PubMed, 1 synthesis or guideline pooled it, 129 citations in OpenAlex.
- Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.The Cochrane database of systematic reviews · 2015Pooled it
- Screening and identification of genes for cell autonomous sex identity in chicken somatic cells.Poultry science · 2026Article
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease.Journal of the peripheral nervous system : JPNS · 2026Article
- KLHDC3 deficiency in mice reveals essential roles in development, survival, and adiposity via the DesCEND ubiquitin pathway.BMC genomics · 2026Article
- Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.European journal of neurology · 2025Article
- Small Complex Rearrangement inGenes · 2024Article
- Identification and Characterization of Novel Founder Mutations inInternational journal of molecular sciences · 2024Article
- Paraneoplastic Cerebellar Degeneration Associated with Breast Cancer: A Case Report and a Narrative Review.Brain sciences · 2024Review
- Isaacs' syndrome: Clinical and paraclinical perspectives in a series of cases.Current journal of neurology · 2024Article
- Generalized Peripheric Nerve Hyperexcitability with Neuropathy: Case Series with Long-Term Outcome.Noro psikiyatri arsivi · 2024Article
- Histidine Triad Nucleotide-Binding Protein 1 Improves Critical Limb Ischemia by Regulating Mitochondrial Homeostasis.Nutrients · 2023Article
- The Many Faces of Histidine Triad Nucleotide Binding Protein 1 (HINT1).ACS pharmacology & translational science · 2023Review
- Contactin-Associated Protein-Like 2-Related Peripheral Nerve Hyperexcitability Associated With Charcot-Marie-Tooth Type 4F.The Neurohospitalist · 2023Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Editorial: Diagnosis of neuromuscular disorders in the era of personalized genomic medicine.Frontiers in neurology · 2023Article
- The most common European HINT1 neuropathy variant phenotype and its case studies.Frontiers in neurology · 2023Article
- Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.Frontiers in neurology · 2023Article
- Article
- HINT1 neuropathy: Expanding the genotype and phenotype spectrum.Clinical genetics · 2022Review
4 more citing papers are in PubMed but not listed here.
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Authors and funding
37 authors at 19 institutions in 10 countries.
Funding
Abstract
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.