Russell P. Saneto

Pediatric Neurology

4800 Sand Point Way NE
Seattle, WA 98105

Last Updated: 09/26/2026

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Found 92 publications

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

Journal: medRxiv : the preprint server for health sciences

Published: June 29, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Pancreatic involvement in EPG5-related disorders.

Pancreatic involvement in EPG5-related disorders.

Journal: Molecular genetics and metabolism reports

Published: May 31, 2025

Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.

Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.

Journal: ACS chemical biology

Published: May 06, 2025

Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE).

Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE).

Journal: Epilepsia

Published: April 08, 2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Journal: Neurology

Published: January 30, 2025

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

Journal: AJNR. American journal of neuroradiology

Published: September 20, 2024

Using a Previsit Questionnaire for Initial Visits in a Pediatric Mitochondrial Clinic: Perspectives of Parents, a Specialty Physician, and a Clinical Coordinator.

Using a Previsit Questionnaire for Initial Visits in a Pediatric Mitochondrial Clinic: Perspectives of Parents, a Specialty Physician, and a Clinical Coordinator.

Journal: Journal of child neurology

Published: September 13, 2024

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Journal: Annals of neurology

Published: June 03, 2024

Functional MRI for bilingual epilepsy surgery patients: serving a diverse pediatric cohort.

Functional MRI for bilingual epilepsy surgery patients: serving a diverse pediatric cohort.

Journal: Journal of neurosurgery. Pediatrics

Published: February 06, 2024

Showing 1-12 of 92

Last Updated: 09/26/2026