Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

RARS2mutations in a sibship with infantile spasms

(2016) Adeline Ngoh et al.   EPILEPSIA

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

(2016) Daniella Nishri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability

(2016) Asem M. Alkhateeb et al.   METABOLIC BRAIN DISEASE

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

(2015) Zejuan Li et al.   JOURNAL OF HUMAN GENETICS

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to NovelRARS2Mutations

(2015) Nichola Z. Lax et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

(2014) Jeffrey T. Joseph et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

(2013) K. Kastrissianakis et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

(2012) F. Invernizzi et al.   MITOCHONDRION

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

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

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