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Last Updated: 04/25/2025
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Found 2731 publications
Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.
Journal: Journal of the peripheral nervous system : JPNS
Published: February 25, 2025
Congenital insensitivity to pain with anhidrosis (CIPA): the orthopaedic perspective.
Journal: BMJ case reports
Published: February 22, 2025
Diffuse symmetrical acroosteolysis in systemic sclerosis.
Journal: QJM : monthly journal of the Association of Physicians
Published: January 30, 2025
Recurrent Osteomyelitis in a Paediatric Patient with a Novel NTRK1 Mutation: A Case Report on Congenital Insensitivity to Pain with Anhidrosis.
Journal: Children (Basel, Switzerland)
Published: January 29, 2025
Bone mineral density and microarchitecture improvement in a young patient with Hajdu-Cheney syndrome and autosomal dominant polycystic kidney disease treated with alendronate.
Journal: Bone reports
Published: December 19, 2024
Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia.
Journal: bioRxiv : the preprint server for biology
Published: December 09, 2024
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
Laminin β4 is required for the development of human peripheral sensory neurons.
Journal: bioRxiv : the preprint server for biology
Published: November 28, 2024
Notch2 Signaling Drives Cardiac Hypertrophy by Suppressing Purine Nucleotide Metabolism.
Journal: Research (Washington, D.C.)
Published: November 20, 2024
Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.
Journal: Science translational medicine
Published: November 20, 2024
Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.
Journal: European journal of neurology
Published: November 08, 2024
Spectrum of neuropathic skeletal injuries in children: a pictorial essay.
Journal: Insights into imaging
Published: November 08, 2024
Last Updated: 04/25/2025