Infantile Axonal Neuropathy Latest Advances

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Journal: Journal of neuromuscular diseases

Published: November 12, 2025

Clinical analysis of anti-GT1a antibody-positive Guillain-Barré syndrome in 25 children

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: September 17, 2025

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Journal: Molecular genetics and metabolism

Published: June 10, 2025

Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.

Journal: Journal of neurology

Published: June 02, 2025

AAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical model.

Journal: Journal of biomedical science

Published: May 20, 2025

Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation.

Journal: Neuromuscular disorders : NMD

Published: April 15, 2025

Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 01, 2025

An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.

Journal: American journal of medical genetics. Part A

Published: March 22, 2025

The Two Faces of Pediatric SCA2.

Journal: European journal of neurology

Published: March 05, 2025

Basic Pathological Mechanisms in Peripheral Nerve Diseases.

Journal: International journal of molecular sciences

Published: February 26, 2025

Unveiling Spinocerebellar Ataxia 25: First Case Report of a Brazilian Family.

Journal: Cerebellum (London, England)

Published: January 25, 2025

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Journal: The Lancet. Neurology

Published: January 07, 2025