Case Studies

Developmental regression and mitochondrial dysfunction in a child with autism.

Poling, J.S., Frye, R.E., Shoffner, J., Zimmerman, A.W. J Child Neurol. 2006; 21(2):170-2.

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Mitochondrial disease in 22q13 duplication syndrome.

Frye RE. J Child Neurol. 2012; 27(7):942-9.

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Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.

Frye, R.E., Cox, D., Slattery, J., Tippett, M., Kahler, S., Granpeesheh, D., Damle, S., Legido, A., Goldenthal, M.J. Sci Rep. 2016 Jan 29;6:19544.

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Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction.

Burger, B.J., Rose, S., Bennuri, S.C., Gill, P.S., Tippett, M.L., Delhey, L., Melnyk, S., Frye, R.E.. Front Pediatr. 2017; 5:219.

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