Asako Takanohashi

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 270 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I. Wolf, Nathan McNeil et al. · The American Journal of Human Genetics · 2013 · 194 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Whole exome sequencing in patients with white matter abnormalities

Adeline Vanderver, Cas Simons, Guy Helman et al. · Annals of Neurology · 2016 · 145 citations · Full text

Life Sciences, Genetics, Neurology +17

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Long Guo, Débora Romeo Bertola, Asako Takanohashi et al. · The American Journal of Human Genetics · 2019 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi et al. · Human Molecular Genetics · 2017 · 89 citations · Full text

Medicine, Neurology, Neuroscience +15