Luan T. Tran

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 · 176 citations · Full text

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Marisa I. Mendes, Mariana Salazar, Kether Guerrero et al. · The American Journal of Human Genetics · 2018 · 87 citations · Full text

Bi-allelic Mutations, Mendelian Disorder, Genetic Disorder +9

Diffuse hypomyelination is not obligate for POLR3-related disorders

Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran et al. · Neurology · 2016 · 75 citations

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants

Laurence Gauquelin, Ferdy Kurniawan Cayami, László Sztriha et al. · Neurology Genetics · 2019 · 50 citations · Full text

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa et al. · Nature Communications · 2019 · 47 citations · Full text