EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

[1]  P. Barboni,et al.  Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. , 2012, Archives of neurology.

[2]  G. Enns,et al.  α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. , 2011, Bioorganic & medicinal chemistry letters.

[3]  G. Cioni,et al.  Scale for evaluation of movement disorders in the first three years of life. , 2009, Pediatric neurology.

[4]  M. Pronicki,et al.  High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. , 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[5]  J. Finsterer Leigh and Leigh-like syndrome in children and adults. , 2008, Pediatric neurology.

[6]  G. Cioni,et al.  Movement disorder-childhood rating scale: reliability and validity. , 2008, Pediatric neurology.

[7]  D. Piekutowska-Abramczuk [The molecular background of Leigh syndrome]. , 2008, Neurologia i neurochirurgia polska.

[8]  R. Rodenburg,et al.  X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy , 2007, Annals of neurology.

[9]  M. Castro‐Gago,et al.  Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain. , 2006, Pediatric neurology.

[10]  Michael Seid,et al.  The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity. , 2003, Ambulatory pediatrics : the official journal of the Ambulatory Pediatric Association.

[11]  P. Raina,et al.  Prognosis for gross motor function in cerebral palsy: creation of motor development curves. , 2002, JAMA.

[12]  E. Holme,et al.  The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities , 2001, Annals of neurology.

[13]  E. Shoubridge,et al.  SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome , 1998, Nature Genetics.

[14]  S. Dimauro,et al.  The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome , 1993, Annals of neurology.

[15]  G. Brown,et al.  Molecular genetic characterization of an X‐linked form of Leigh's syndrome , 1993, Annals of neurology.

[16]  D. Leigh SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT , 1951, Journal of neurology, neurosurgery, and psychiatry.

[17]  F. Blankenberg,et al.  Initial experience in the treatment of inherited mitochondrial disease with EPI-743. , 2012, Molecular genetics and metabolism.

[18]  E. Il’ina,et al.  [Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics]. , 2010, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova.

[19]  J. Benkendorf,et al.  X-Linked Leigh's syndrome , 2004, Human Genetics.