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ALLMedicine™ Autosomal Recessive Axonal Neuropathy With Neuromyotonia Center

Research & Reviews  13 results

HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934415
Orphanet Journal of Rare Diseases; Amor-Barris S, Høyer H et. al.

Mar 5th, 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....

Azithromycin-based Extended-Spectrum Antibiotic Prophylaxis for Cesarean: Role of Place...
https://doi.org/10.1038/ng.2406
American Journal of Perinatology; Zimoń M, Baets J et. al.

Nov 30th, 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...

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neur...
https://doi.org/10.1016/j.ejmg.2018.07.009
European Journal of Medical Genetics; Wang Z, Lin J et. al.

Jul 14th, 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...

Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyo...
https://doi.org/10.1016/j.nmd.2018.05.003
Neuromuscular Disorders : NMD; Meng L, Fu J et. al.

Jul 13th, 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 ...

Autosomal recessive axonal neuropathy with neuromyotonia
https://rarediseases.info.nih.gov/diseases/12353/autosomal-recessive-axonal-neuropathy-with-neuromyotonia

Mar 31st, 2018 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 324442 Definition A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sens...

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Clinicaltrials.gov  13 results

HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7934415
Orphanet Journal of Rare Diseases; Amor-Barris S, Høyer H et. al.

Mar 5th, 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....

Azithromycin-based Extended-Spectrum Antibiotic Prophylaxis for Cesarean: Role of Place...
https://doi.org/10.1038/ng.2406
American Journal of Perinatology; Zimoń M, Baets J et. al.

Nov 30th, 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...

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neur...
https://doi.org/10.1016/j.ejmg.2018.07.009
European Journal of Medical Genetics; Wang Z, Lin J et. al.

Jul 14th, 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...

Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyo...
https://doi.org/10.1016/j.nmd.2018.05.003
Neuromuscular Disorders : NMD; Meng L, Fu J et. al.

Jul 13th, 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 ...

Autosomal recessive axonal neuropathy with neuromyotonia
https://rarediseases.info.nih.gov/diseases/12353/autosomal-recessive-axonal-neuropathy-with-neuromyotonia

Mar 31st, 2018 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 324442 Definition A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sens...

see more →