Last Updated: 09/26/2026
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Found 33 publications
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Journal: Clinical genetics
Published: January 27, 2026
A transposase-derived gene required for human brain development.
Journal: Science advances
Published: January 14, 2026
Combined Dietary Restriction and Chelation Therapy Reduces Manganese Burden in SLC39A14-Associated Manganism.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: May 07, 2025
Neuroimaging Reader Study on Clinical Sensitivity and Specificity Using Synthetic MRI Based on MR Quantification.
Journal: AJNR. American journal of neuroradiology
Published: September 16, 2024
Local Field Potential-Based Programming for Deep Brain Stimulation in Pediatric DYT1 Dystonia.
Journal: Movement disorders clinical practice
Published: April 02, 2024
Leukemic Optic Neuropathy.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: January 25, 2024
The Pediatric Neuroradiologist's Practical Guide to Capture and Evaluate Pre- and Postoperative Velopharyngeal Insufficiency.
Journal: AJNR. American journal of neuroradiology
Published: June 16, 2023
Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging.
Journal: Pediatric radiology
Published: May 26, 2023
A transposase-derived gene required for human brain development.
Journal: bioRxiv : the preprint server for biology
Published: May 10, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Journal: Brain : a journal of neurology
Published: April 18, 2023
Anti-NMDA-Receptor Encephalitis.
Journal: Radiographics : a review publication of the Radiological Society of North America, Inc
Published: September 16, 2022
Last Updated: 09/26/2026