A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

(2014) Ender Karaca et al.   CELL

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

(2014) Ashleigh E. Schaffer et al.   CELL

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

(2013) Kazuyuki Nakamura et al.   BRAIN & DEVELOPMENT

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

(2013) Naiara Akizu et al.   CELL

Recent Advances in the Genetic Etiology of Brain Malformations

(2013) David A. Dyment et al.   Current Neurology and Neuroscience Reports

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

(2012) Ganeshwaran H Mochida et al.   NATURE GENETICS

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

CpG islands and the regulation of transcription

(2011) A. M. Deaton et al.   GENES & DEVELOPMENT

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

(2011) Andreas Wolf et al.   HUMAN MUTATION

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

(2010) Orly Agamy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Characterization of an antagonistic switch between histone H3 lysine 27 methylation and acetylation in the transcriptional regulation of Polycomb group target genes

(2010) Diego Pasini et al.   NUCLEIC ACIDS RESEARCH

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Management of Gene Promoter Mutations in Molecular Diagnostics

(2009) K. M. K. de Vooght et al.   CLINICAL CHEMISTRY

CBP-mediated acetylation of histone H3 lysine 27 antagonizes Drosophila Polycomb silencing

(2009) F. Tie et al.   DEVELOPMENT

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

(2008) Birgit S Budde et al.   NATURE GENETICS