Last Updated: 09/26/2026
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Found 77 publications
Pharmacological Depletion of Retinal Mononuclear Phagocytes Is Neuroprotective in a Mouse Model of Mitochondrial Optic Neuropathy.
Journal: Investigative ophthalmology & visual science
Published: February 02, 2026
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
Journal: Neuropediatrics
Published: December 22, 2025
Neuronal compartmentalization results in "impoverished" axonal mitochondria.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
Manganese Neurotoxicity and Familial Disorders of Manganese Transport.
Journal: Annals of the Child Neurology Society
Published: April 29, 2025
Correlation between lumbar puncture opening pressure and venous sinus pressure gradient in idiopathic intracranial hypertension (IIH).
Journal: Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
Published: April 25, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: American journal of human genetics
Published: April 01, 2025
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.
Journal: Journal of inherited metabolic disease
Published: November 11, 2024
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Journal: Molecular genetics and metabolism
Published: October 19, 2024
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Journal: Brain : a journal of neurology
Published: October 03, 2024
Compartmental Differences in the Retinal Ganglion Cell Mitochondrial Proteome.
Journal: bioRxiv : the preprint server for biology
Published: May 20, 2024
Generation of an Armcx1 Conditional Knockout Mouse.
Journal: Genesis (New York, N.Y. : 2000)
Published: May 17, 2024
Last Updated: 09/26/2026