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Author Title [ Year] Filters: Keyword is Mitochondrial Diseases [Clear All Filters]
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. Ann Neurol 80, 633-7 (2016).
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet 99, 1229-1244 (2016).