Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

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

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Geneviève Bernard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The burden of inherited leukodystrophies in children

(2010) J. L. Bonkowsky et al.   NEUROLOGY

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

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

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum

(2008) Masayuki Sasaki et al.   BRAIN & DEVELOPMENT