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Last Updated: 01/07/2026
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Found 315 publications
Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.
Journal: Journal of child neurology
Published: October 15, 2025
Hereditary neuropathy with liability to pressure palsies with recurrent facial paralysis as main clinical manifestation in a Chinese patient: A case report.
Journal: Medicine
Published: July 09, 2025
Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
Journal: Glia
Published: June 04, 2025
Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.
Journal: Internal medicine (Tokyo, Japan)
Published: April 13, 2025
Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
Journal: American journal of medical genetics. Part A
Published: February 25, 2025
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Journal: Journal of neurology
Published: October 24, 2024
Video head impulse test findings in patients with peripheral myelin protein 22 related neuropathies.
Video head impulse test findings in patients with peripheral myelin protein 22 related neuropathies.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: June 20, 2024
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.
Journal: Human genome variation
Published: April 24, 2024
Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.
Journal: Veterinary research communications
Published: April 11, 2024
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Journal: Brain : a journal of neurology
Published: April 04, 2024
Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
Published: March 03, 2024
Last Updated: 01/07/2026