FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy

(2017) Jae So Cho et al.   EPILEPSY RESEARCH

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

(2017) Luciana Musante et al.   HUMAN MUTATION

New insights into the phenotype of FARS2 deficiency

(2017) Elise Vantroys et al.   MOLECULAR GENETICS AND METABOLISM

Clinical findings in a patient withFARS2mutations and early-infantile-encephalopathy with epilepsy

(2016) Federico Raviglione et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

(2016) Tarja Linnankivi et al.   HUMAN MUTATION

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease

(2016) Melissa A. Walker et al.   JOURNAL OF CHILD NEUROLOGY

Differential Mitochondrial Requirements for Radially and Non-radially Migrating Cortical Neurons: Implications for Mitochondrial Disorders

(2016) Erika G. Lin-Hendel et al.   Cell Reports

Mutations inFARS2and non-fatal mitochondrial dysfunction in two siblings

(2015) Hilary J Vernon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Newly Identified Missense Mutation inFARS2Causes Autosomal-Recessive Spastic Paraplegia

(2015) Ying Yang et al.   HUMAN MUTATION

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders

(2015) H. Stranneheim et al.   JOURNAL OF INTERNAL MEDICINE

Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases

(2014) Manish Datt et al.   BMC GENOMICS

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

(2013) Abdulraheem Almalki et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Aminoacyl-tRNA synthetases in medicine and disease

(2013) Peng Yao et al.   EMBO Molecular Medicine

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

(2012) Jenni M. Elo et al.   HUMAN MOLECULAR GENETICS