Last Updated: 09/26/2026
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Found 18 publications
Pseudo-Dystonic Gait in a Preschool Child: Foot Posturing Contralateral to a Cuboid Fracture.
Journal: Movement disorders clinical practice
Published: December 18, 2025
Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorder.
Journal: Brain, behavior, & immunity - health
Published: April 19, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Journal: Pediatric neurology
Published: November 26, 2024
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
Journal: NPJ genomic medicine
Published: September 18, 2024
Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.
Journal: American journal of medical genetics. Part A
Published: March 07, 2024
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
Journal: Molecular genetics and genomics : MGG
Published: October 11, 2022
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Journal: Frontiers in genetics
Published: March 01, 2022
Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency.
Journal: Radiology case reports
Published: November 08, 2021
Lethal Pediatric Cerebral Vasculitis Triggered by Severe Acute Respiratory Syndrome Coronavirus 2.
Journal: Pediatric neurology
Published: October 25, 2021
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Journal: Brain : a journal of neurology
Published: July 15, 2021
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Journal: Pediatric neurology
Published: July 11, 2018
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis.
Journal: Pediatric neurology
Published: December 03, 2015
Last Updated: 09/26/2026