Infantile Axonal Neuropathy Latest Advances

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Journal: International journal of molecular sciences

Published: January 09, 2026

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

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Journal: American journal of medical genetics. Part A

Published: October 07, 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

The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.

Journal: Neurobiology of disease

Published: September 03, 2025

Patterns of Seasonality and Subtype-Linked Outcomes of Pediatric Guillain-Barré Syndrome ICU Admissions: A 10-Year Audit from Southern India.

Journal: Indian pediatrics

Published: August 26, 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

Axonal Versus Demyelinating Guillain-Barré Syndrome Subtypes in Critically Ill Children: Clinical and Autonomic Profiles.

Journal: Pediatric neurology

Published: May 21, 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

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Journal: Journal of neurology, neurosurgery, and psychiatry

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

Infantile Axonal Neuropathy Latest Advances

Find the Latest Research About Infantile Axonal Neuropathy

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

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

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

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

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

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

The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.

The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.

Patterns of Seasonality and Subtype-Linked Outcomes of Pediatric Guillain-Barré Syndrome ICU Admissions: A 10-Year Audit from Southern India.

Patterns of Seasonality and Subtype-Linked Outcomes of Pediatric Guillain-Barré Syndrome ICU Admissions: A 10-Year Audit from Southern India.

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

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

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

Axonal Versus Demyelinating Guillain-Barré Syndrome Subtypes in Critically Ill Children: Clinical and Autonomic Profiles.

Axonal Versus Demyelinating Guillain-Barré Syndrome Subtypes in Critically Ill Children: Clinical and Autonomic Profiles.

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

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

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

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

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