Spinal Muscular Atrophy with Arthrogryposis Latest Advances

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

PMP22-Related Neuropathies: A Systematic Review.

Journal: Genes

Published: September 29, 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.

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

Spinal Muscular Atrophy with Arthrogryposis Latest Advances

Find the Latest Research About Spinal Muscular Atrophy with Arthrogryposis

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

PMP22-Related Neuropathies: A Systematic Review.

PMP22-Related Neuropathies: A Systematic Review.

Hereditary neuropathy with liability to pressure palsies with recurrent facial paralysis as main clinical manifestation in a Chinese patient: A case report.

Hereditary neuropathy with liability to pressure palsies with recurrent facial paralysis as main clinical manifestation in a Chinese patient: A case report.

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.

Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.

Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.

Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.

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.

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.

Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.