Disease: Severe infantile axonal neuropathy
- <em>GAN</em>-Related Neurodegeneration
- A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia
- Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction
- Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
- Glaucoma
- Glaucoma (Nursing)
- Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a <em>De novo MORC2</em> Gene Variant: A Case Report and Brief Review of the Literature
- Infantile-Onset Spinocerebellar Ataxia
- Neurofilament Proteins as Prognostic Biomarkers in Neurological Disorders
- Novel mutations in the <em>HADHB</em> gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
- PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings
- PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
- Report of a novel ATP7A mutation causing distal motor neuropathy
- Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years
- Severe infantile axonal neuropathy with respiratory failure
- Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <em>LAS1L</em> Gene
- Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene