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

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

(2011) Paul R. Kasher et al.   HUMAN MOLECULAR GENETICS

Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis

(2011) Célia Nogueira et al.   JOURNAL OF CHILD NEUROLOGY

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

Molecular genetics of mitochondrial disorders

(2010) Lee-Jun C. Wong   Developmental Disabilities Research Reviews

The use of neuroimaging in the diagnosis of mitochondrial disease

(2010) Seth D. Friedman et al.   Developmental Disabilities Research Reviews

A history of mitochondrial diseases

(2010) Salvatore DiMauro   JOURNAL OF INHERITED METABOLIC DISEASE

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

(2010) D. Cassandrini et al.   NEUROLOGY

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

(2010) Z.M.A. Chrzanowska-Lightowlers et al.   NEUROMUSCULAR DISORDERS

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

Aminoacyl-tRNA Synthesis and Translational Quality Control

(2009) Jiqiang Ling et al.   Annual Review of Microbiology

Batteries not included: diagnosis and management of mitochondrial disease

(2009) R. McFarland et al.   JOURNAL OF INTERNAL MEDICINE

Mammalian aminoacyl-tRNA synthetases: Cell signaling functions of the protein translation machinery

(2009) Meredith V. Brown et al.   VASCULAR PHARMACOLOGY

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

(2008) Birgit S Budde et al.   NATURE GENETICS