SURF1 deficiency: a multi-centre natural history study

SURF1-associated leigh syndrome: A case series and novel mutations

(2012) Inn-Chi Lee et al.   HUMAN MUTATION

Complex I deficiency: clinical features, biochemistry and molecular genetics

(2012) Elisa Fassone et al.   JOURNAL OF MEDICAL GENETICS

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

(2012) K. J. Kinghorn et al.   JOURNAL OF NEUROLOGY

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

(2011) F.-G. Debray et al.   JOURNAL OF MEDICAL GENETICS

SURF1missense mutations promote a mild Leigh phenotype

(2009) D Piekutowska-Abramczuk et al.   CLINICAL GENETICS

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

Suppression mechanisms of COX assembly defects in yeast and human: Insights into the COX assembly process

(2008) Antoni Barrientos et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH