A multicenter study on Leigh syndrome: disease course and predictors of survival

MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement

(2013) Kalliopi Sofou et al.   MITOCHONDRION

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

(2013) Dennis Lal et al.   NEUROGENETICS

SURF1 deficiency: a multi-centre natural history study

(2013) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

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

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

Late-adult onset Leigh syndrome

(2012) Penelope McKelvie et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3

(2010) Esther Leshinsky-Silver et al.   MOLECULAR GENETICS AND METABOLISM

Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence

(2009) M. Rohrbach et al.   FETAL DIAGNOSIS AND THERAPY

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

(2009) Hsiu-Fen Lee et al.   PEDIATRIC NEUROLOGY

Diffusion-Weighted Imaging in Preclinical Leigh Syndrome

(2009) Akira Kumakura et al.   PEDIATRIC NEUROLOGY

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

(2008) Karin Naess et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS