Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease

Partition of tRNA synthetases into two classes based on mutually exclusive sets of sequence motifs

Gilbert Eriani, Marc Delarue, Olivier Poch et al. · Nature · 1990 · 1.4K citations

Life Sciences, Bioinformatics, Molecular Biology +12

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Hanka Venselaar, Tim AH te Beek, Remko Kuipers et al. · BMC Bioinformatics · 2010 · 1.2K citations · Full text

Life Sciences, Bioinformatics, Biology +16

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

Daniella Magen, Costa Georgopoulos, Peter Bross et al. · The American Journal of Human Genetics · 2008 · 211 citations · Full text

Life Sciences, Neurobiology, Neuroscience +15

Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations

Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk et al. · Neurology · 2014 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Isabelle Thiffault, Nicole I. Wolf, Diane Forget et al. · Nature Communications · 2015 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14