标题
Defining the pathogenicity of creatine deficiency syndrome
作者
关键词
-
出版物
HUMAN MUTATION
Volume 32, Issue 3, Pages 282-291
出版商
Wiley
发表日期
2010-12-08
DOI
10.1002/humu.21421
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。- Reactive oxygen species, cellular redox systems, and apoptosis
- (2010) Magdalena L. Circu et al. FREE RADICAL BIOLOGY AND MEDICINE
- Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
- (2010) Angela Sempere et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Synthesis and transport of creatine in the CNS: importance for cerebral functions
- (2010) Elidie Béard et al. JOURNAL OF NEUROCHEMISTRY
- Alternative fuel--another role for p53 in the regulation of metabolism
- (2010) K. H. Vousden PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Redox Control of the Cell Cycle in Health and Disease
- (2009) Ehab H. Sarsour et al. ANTIOXIDANTS & REDOX SIGNALING
- A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene
- (2009) Patricia Alcaide et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Epilepsy spectrum in cerebral creatine transporter deficiency
- (2009) Carmen Fons et al. EPILEPSIA
- Oxidative Stress Is Linked to ERK1/2-p16 Signaling-mediated Growth Defect in ATM-deficient Astrocytes
- (2009) Jeesun Kim et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT
- (2009) Ángela Sempere et al. MEDICINA CLINICA
- RETRACTED: GAMT, a p53-Inducible Modulator of Apoptosis, Is Critical for the Adaptive Response to Nutrient Stress
- (2009) Takao Ide et al. MOLECULAR CELL
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Transcriptional responses to oxidative stress: Pathological and toxicological implications
- (2009) Qiang Ma PHARMACOLOGY & THERAPEUTICS
- Functions and effects of creatine in the central nervous system
- (2008) Robert H. Andres et al. BRAIN RESEARCH BULLETIN
- Influence of chlorine dioxide on cell death and cell cycle of human gingival fibroblasts
- (2008) Ryo Nishikiori et al. JOURNAL OF DENTISTRY
- Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency
- (2008) S.U. Dhar et al. MOLECULAR GENETICS AND METABOLISM
- Analyzing real-time PCR data by the comparative CT method
- (2008) Thomas D Schmittgen et al. Nature Protocols
- Guanidinoacetate Decreases Antioxidant Defenses and Total Protein Sulfhydryl Content in Striatum of Rats
- (2008) Alexandra I. Zugno et al. NEUROCHEMICAL RESEARCH
- Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
- (2008) Ofir T. Betsalel et al. NEUROGENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd 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