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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.

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.

Congenital insensitivity to pain with anhidrosis (CIPA): the orthopaedic perspective.

Journal: BMJ case reports
Published: February 22, 2025

Diffuse symmetrical acroosteolysis in systemic sclerosis.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Spectrum of neuropathic skeletal injuries in children: a pictorial essay.

Journal: Insights into imaging
Published: November 08, 2024
Showing 1-12 of 2,731

Last Updated: 04/25/2025