HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia

(2018) Zhangyang Wang et al.   European Journal of Medical Genetics

A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family

(2016) Dimitra Veltsista et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue

(2016) Martin Frühwirth et al.   NEUROPEDIATRICS

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies

(2015) Alejandro Horga et al.   JOURNAL OF NEUROLOGY

Novel loss-of-function mutation of theHINT1gene in a patient with distal motor axonal neuropathy without neuromyotonia

(2015) Francesca Boaretto et al.   MUSCLE & NERVE

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

(2014) P. Laššuthová et al.   NEUROGENETICS

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

(2013) Hui Zhao et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

(2012) Magdalena Zimoń et al.   NATURE GENETICS