Hereditary Sensory Neuropathy Type 1 (HSN1) Latest Advances

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: February 26, 2025

Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.

Journal: Journal of the peripheral nervous system : JPNS

Published: February 25, 2025

Ultrasound-guided femoral nerve block combined with lateral femoral cutaneous nerve block in a patient with congenital insensitivity to pain and anhidrosis: a case report.

Journal: BMC anesthesiology

Published: November 28, 2024

First instance of pain in congenital pain insensitivity with anhidrosis.

Journal: Clinical neurology and neurosurgery

Published: November 07, 2024

The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes.

Journal: Nature communications

Published: October 02, 2024

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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.

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.

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.

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

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

Congenital insensitivity to pain with anhidrosis.

Congenital insensitivity to pain with anhidrosis.

Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model.

Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model.

Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.

Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.

Oral and Maxillofacial Management in Patients With Congenital Insensitivity to Pain and Anhidrosis (CIPA).

Oral and Maxillofacial Management in Patients With Congenital Insensitivity to Pain and Anhidrosis (CIPA).

Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.

Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.

Ultrasound-guided femoral nerve block combined with lateral femoral cutaneous nerve block in a patient with congenital insensitivity to pain and anhidrosis: a case report.

Ultrasound-guided femoral nerve block combined with lateral femoral cutaneous nerve block in a patient with congenital insensitivity to pain and anhidrosis: a case report.

First instance of pain in congenital pain insensitivity with anhidrosis.

First instance of pain in congenital pain insensitivity with anhidrosis.

The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes.

The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes.