Last Updated: 09/26/2026
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Found 115 publications
Emerging Topics in Neurogenomics: Summary From Inaugural Child Neurology Society Genetics Summit.
Journal: Pediatric neurology
Published: January 17, 2026
Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.
Journal: Therapeutic advances in rare disease
Published: January 14, 2026
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
Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant.
Journal: Neurology
Published: October 22, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.
Journal: Journal of patient-reported outcomes
Published: June 24, 2025
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape.
Journal: Pediatric neurology
Published: May 23, 2025
Neuroimaging patterns in patients with mitochondrial leukoencephalopathies.
Journal: Journal of the neurological sciences
Published: April 04, 2025
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: February 21, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Journal: Molecular genetics and metabolism
Published: January 09, 2025
Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.
Journal: Orphanet journal of rare diseases
Published: December 15, 2024
Last Updated: 09/26/2026