Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 37 publications
Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant.
Journal: Neurology
Published: October 22, 2025
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.
Journal: JIMD reports
Published: September 23, 2025
Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley.
Journal: The American journal of bioethics : AJOB
Published: May 23, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Journal: Neurology
Published: January 30, 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
Patient selection considerations for AADC deficiency gene therapy.
Journal: Annals of the Child Neurology Society
Published: June 24, 2023
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.
Journal: JIMD reports
Published: September 01, 2021
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
Journal: EMBO molecular medicine
Published: June 15, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Journal: Genome medicine
Published: September 04, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Journal: American journal of human genetics
Published: February 13, 2020
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
Journal: Clinical genetics
Published: December 17, 2019
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Journal: American journal on intellectual and developmental disabilities
Published: August 26, 2019
Last Updated: 09/26/2026