标题
POLGmutations in Australian patients with mitochondrial disease
作者
关键词
-
出版物
INTERNAL MEDICINE JOURNAL
Volume 43, Issue 2, Pages 150-156
出版商
Wiley
发表日期
2012-05-30
DOI
10.1111/j.1445-5994.2012.02847.x
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。- Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum
- (2011) S. Tang et al. JOURNAL OF MEDICAL GENETICS
- Biochemical analysis of the G517V POLG variant reveals wild-type like activity
- (2011) Rajesh Kasiviswanathan et al. MITOCHONDRION
- Polymerase γ Gene POLG determines the risk of sodium valproate-induced liver toxicity
- (2010) Joanna D. Stewart et al. HEPATOLOGY
- The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders
- (2010) Bruce H. Cohen et al. METHODS
- Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
- (2010) Henry Rivera et al. MITOCHONDRION
- Polymerase Gamma 1 Mutations
- (2010) Margherita Milone et al. NEUROLOGIST
- POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
- (2010) Russell P. Saneto et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations
- (2009) Young-Sam Lee et al. CELL
- Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication
- (2009) Rajesh Kasiviswanathan et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease
- (2009) Sarah E. Hopkins et al. JOURNAL OF CHILD NEUROLOGY
- The unfolding clinical spectrum of POLG mutations
- (2009) M J Blok et al. JOURNAL OF MEDICAL GENETICS
- ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS
- (2009) C. Schulte et al. NEUROLOGY
- Juvenile Alpers Disease
- (2008) Esko Wiltshire et al. ARCHIVES OF NEUROLOGY
- Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
- (2008) Neil Ashley et al. HUMAN MOLECULAR GENETICS
- Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations
- (2008) Lee-Jun C. Wong et al. HUMAN MUTATION
- 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands
- (2007) Patrick F. Chinnery et al. NEUROMUSCULAR DISORDERS
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