Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C. Scheper, Thom van der Klok, Rob J. van Andel et al. · Nature Genetics · 2007 · 453 citations

Life Sciences, Neurology, Neuroscience +17

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack et al. · Brain · 2012 · 216 citations · Full text

Life Sciences, Genetics, Neurology +17

Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

Cristina Dallabona, Daria Diodato, Sietske H. Kevelam et al. · Neurology · 2014 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Laura Melchionda, Tobias B. Haack, Steven Hardy et al. · The American Journal of Human Genetics · 2014 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17