March 11, 2010

 NEWS & EVENTS
Eight of our research projects were presented at the 2009 American Academy of Neurology meeting in Seattle, Washington this April! Our project topics focused on Mitochondrial Disease, its relationship with Autism and other syndromes, and new clinical and diagnostic approaches.


Abstract Titles:
  1. Clinical and Laboratory Features of a Single Family with Mutations in the POLG1 and
    ANT1 (SLC25A4) Genes [P06.085]
  2. A New Sporadic Point Mutation in the ATP6 of the Mitochondrial DNA (mtDNA) in Leigh Disease [P08.122]
  3. Carriers of Mutations in Calpain Genes May Increase the Risk of HyperCKemia in Mitochondrial Disease Patients [P06.084]
  4. Relationship Between Metabolic Rate Measurements, Mitochondrial Protein Chemistry, and Mitochondrial DNA (mtDNA) Mutations [P01.030]
  5. Mitochondrial Disease in Adult and Pediatric Patients with Fatigue and Myalgias [P09-094]
  6. Fever and Regression in Autistic Spectrum Disorder Patients with Mitochondrial Disease [S50]
  7. Utility of the Measurement of Monoamine Neurotransmitter Metabolites and Other Specific Biomarkers in CSF from Infants and Children with Early Onset Epilepsy [P05.087]
  8. Cerebral Folate Deficiency (CFD) and Mitochondrial Disease [P07.095]
Presentation Posters:

Click on the abstract title above to down load the associated presentation poster.



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