Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

(2014) N. I. Wolf et al.   NEUROLOGY

Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies

(2013) Roberta La Piana et al.   JOURNAL OF CHILD NEUROLOGY

Mutations inPOLR3AandPOLR3Bare a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

(2013) Hussein Daoud et al.   JOURNAL OF MEDICAL 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

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

(2011) Martine Tétreault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

(2010) Marjan E. Steenweg et al.   BRAIN

Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription

(2010) Hélène Dumay-Odelot et al.   CELL CYCLE

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

(2009) R. Schiffmann et al.   NEUROLOGY