ALLMedicine™ Autosomal Recessive Axonal Neuropathy With Neuromyotonia Center
Research & Reviews 9 results
Orphanet Journal of Rare Diseases; Amor-Barris S, Høyer H et. al.
Mar 6th, 2021 - Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high carrier frequency of the c.110G > C (p....
Antioxidants & Redox Signaling; Cortés-Montero E, Rodríguez-Muñoz M et. al.
May 16th, 2019 - Aims: Histidine triad nucleotide-binding protein 1 (HINT1) exhibits proapoptotic and tumor-suppressive activity. HINT1 binds to transcription factors such as teneurin1 and to the regulator of G protein signaling 17 (RGS) (Z2) protein, which incorp...
American Journal of Perinatology; Zimoń M, Baets J et. al.
Dec 1st, 2018 - 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 link...
European Journal of Medical Genetics; Wang Z, Lin J et. al.
Jul 15th, 2018 - Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare form of hereditary neuropathy. Mutations in HINT1 gene have been identified to be the cause of this disorder. We report two unrelated patients who presented gait impairme...
Neuromuscular Disorders : NMD; Meng L, Fu J et. al.
Jul 14th, 2018 - Autosomal recessive axonal neuropathy with neuromyotonia (ARANNM) is a rare disease caused by mutations of histidine triad nucleotide binding protein 1 (HINT1) gene. ARANNM has been reported mainly in European countries but little reported so far ...