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Last Updated: 10/31/2025
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Found 1078 publications
Isolated peripheral neuropathy in a young adult: the role of comprehensive genetic testing.
Journal: BMJ case reports
Published: September 19, 2025
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
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.
Journal: JPMA. The Journal of the Pakistan Medical Association..
Published: July 23, 2025
Oral and Maxillofacial Management in Patients With Congenital Insensitivity to Pain and Anhidrosis (CIPA).
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
Effect of Brief Electrical Stimulation on Cell Biomechanics in Hereditary Sensory Neuropathy.
Journal: Small (Weinheim an der Bergstrasse, Germany)
Published: September 30, 2024
Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Journal: Annals of clinical and translational neurology
Published: September 28, 2024
A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings.
Journal: Journal of molecular neuroscience : MN
Published: September 18, 2024
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.
Journal: Journal of neurology
Published: September 11, 2024
Last Updated: 10/31/2025