FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei
出版年份 2018 全文链接
标题
FARS2
mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei
作者
关键词
-
出版物
Annals of Clinical and Translational Neurology
Volume 5, Issue 9, Pages 1128-1133
出版商
Wiley
发表日期
2018-08-14
DOI
10.1002/acn3.598
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now