Citation Impact
Citing Papers
Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects
2014
Inducible Nitric-oxide Synthase Is an Important Contributor to Prolonged Protective Effects of Ischemic Preconditioning in the Mouse Kidney
2003
Molecular mediators of hepatic steatosis and liver injury
2004 Standout
Cognitive phenotype and psychiatric disorder in 22q11.2 deletion syndrome: A review
2016
Oxyl radicals, redox-sensitive signalling cascades and antioxidants
2007 Standout
Skeletal Muscle Fatigue: Cellular Mechanisms
2008 Standout
Congenital disorders of glycosylation: a booming chapter of pediatrics
2004
NOVEL MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH CHINESE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
2009 StandoutNobel
The Failing Heart — An Engine Out of Fuel
2007 Standout
Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway
2001
Cellular pathophysiology of ischemic acute kidney injury
2011 Standout
Glycosylation in Cellular Mechanisms of Health and Disease
2006 Standout
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
2009
Mitochondrial role in life and death of the cell
2000
The predictive value of numerical magnitude comparison for individual differences in mathematics achievement
2009 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
2011
Mitochondrial function in heart muscle from patients with idiopathic dilated cardiomyopathy
2000
Biological roles of glycans
2016 Standout
Proline and COMT Status Affect Visual Connectivity in Children with 22q11.2 Deletion Syndrome
2011
Myocardial Substrate Metabolism in the Normal and Failing Heart
2005 Standout
Rethinking schizophrenia
2010 StandoutNature
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Novel pharmacological approaches to the treatment of renal ischemia-reperfusion injury: a comprehensive review
2007
Schizophrenia-like neurophysiological abnormalities in 22q11.2 deletion syndrome and their association to COMT and PRODH genotypes
2013
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
2010
Congenital disorders of glycosylation
2010
Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes
2014
22q11.2 deletion syndrome
2015 Standout
Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion
2013
Involvement of a Non-Human Sialic Acid in Human Cancer
2014
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
1997
Mitochondria in neuromuscular disorders
1998
Secondary carnitine deficiency and impaired docosahexaenoic (22:6n‐3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and β‐oxidation
2000
Quadruplex DNA: sequence, topology and structure
2006 Standout
Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology
2006
Reactive oxygen species in cell signaling
2000 Standout
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Molecular mediators of hepatic steatosis and liver injury
2004 Standout
The return of metabolism: biochemistry and physiology of the pentose phosphate pathway
2014 Standout
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Creatine and Creatinine Metabolism
2000 Standout
The Role of Mitochondria in Apoptosis
2009 Standout
Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family
2007
Works of Bert Dorland being referenced
Galactitol in galactosemia
1995
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
2004
Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele
2008
Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect
1993
Quantification of free and total sialic acid excretion by LC–MS/MS
2006
L-Arginine Supplementation Improves Function and Reduces Inflammation in Renal Allografts
2001