F. Kendall

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2014, Mitochondrion.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

Mitochondrial disorders: Overview of diagnostic tools and new diagnostic trends

F. Kendall, Fran Kendall, 2012, Journal of Pediatric Biochemistry.

Secondary Dystonia in a Novel Mitochondriopathy Responsive to Deep Brain Stimulation Therapy

Vibhash D. Sharma, R. Gross, C. Buetefisch, 2020, Movement disorders clinical practice.

De novo mutations in PURA are associated with hypotonia and developmental delay

Wendy K. Chung, W. Chung, K. Retterer, 2015, Cold Spring Harbor molecular case studies.

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

B. Burton, M. Deardorff, E. Bedoukian, 2017, Clinical genetics.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2014, Mitochondrion.