Kether Guerrero

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 · 203 citations · Full text

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

Mutations in <i>POLR3A</i> and <i>POLR3B</i> are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Hussein Daoud, Martine Tétreault, William T. Gibson et al. · Journal of Medical Genetics · 2013 · 103 citations

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