Hereditary Sensory Neuropathy Type 1 (HSN1) Latest Advances

Find the Latest Research About Hereditary Sensory Neuropathy Type 1 (HSN1)

Last Updated: 06/30/2026

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Found 1094 publications

Exudative variant of non-proliferative MacTel type 2A in a SPTLC2 carrier with hereditary sensory and autonomic neuropathy.

Exudative variant of non-proliferative MacTel type 2A in a SPTLC2 carrier with hereditary sensory and autonomic neuropathy.

Journal: BMJ case reports
Published: June 19, 2026

Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 (HSN1) in the UK.

Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 (HSN1) in the UK.

Journal: Journal of the peripheral nervous system : JPNS
Published: April 21, 2026

Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Journal: JBJS case connector
Published: March 21, 2026

Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.

Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.

Journal: Frontiers in neural circuits
Published: December 29, 2025

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Journal: Laboratory medicine
Published: December 16, 2025

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.

Journal: BMJ case reports
Published: December 12, 2025

Isolated peripheral neuropathy in a young adult: the role of comprehensive genetic testing.

Isolated peripheral neuropathy in a young adult: the role of comprehensive genetic testing.

Journal: BMJ case reports
Published: September 19, 2025

Hummingbird sign in a patient with DNMT1-related disorder.

Hummingbird sign in a patient with DNMT1-related disorder.

Journal: Neurocase
Published: September 12, 2025

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Journal: Journal of neuromuscular diseases
Published: August 23, 2025

Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study.

Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study.

Journal: European journal of neurology
Published: August 15, 2025

Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Journal: Journal of the peripheral nervous system : JPNS
Published: August 04, 2025

Congenital insensitivity to pain with anhidrosis.

Congenital insensitivity to pain with anhidrosis.

Journal: JPMA. The Journal of the Pakistan Medical Association
Published: July 23, 2025
Showing 1-12 of 1,094

Last Updated: 06/30/2026