Last Updated: 09/26/2026
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Found 59 publications
Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.
Journal: Therapeutic advances in rare disease
Published: November 19, 2025
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.
Journal: Brain communications
Published: September 15, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Journal: Neurology
Published: January 30, 2025
The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.
Journal: Therapeutic advances in chronic disease
Published: July 31, 2024
Early neurodevelopmental follow-up results from the NEOLEV2 cohort.
Journal: Annals of the Child Neurology Society
Published: July 21, 2024
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Journal: Orphanet journal of rare diseases
Published: July 12, 2024
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Journal: Annals of clinical and translational neurology
Published: June 21, 2024
Efficacy of phenobarbital is maintained after exposure to mild-to-moderate seizures in neonates.
Journal: Epilepsia open
Published: May 15, 2024
Distribution of hand function by age in individuals with Rett syndrome.
Journal: Annals of the Child Neurology Society
Published: March 18, 2024
Last Updated: 09/26/2026