Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Mitochondrial carriers in the cytoplasmic state have a common substrate binding site
2006
Chromosome Abnormalities and Genetic Counseling
2011
Promoter Choice Determines Splice Site Selection in Protocadherin α and γ Pre-mRNA Splicing
2002 StandoutNobel
ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model
2023 StandoutNobel
Sirtuins as regulators of metabolism and healthspan
2012 Standout
Multidrug resistance in cancer: role of ATP–dependent transporters
2002 Standout
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
2019
The genomic basis of the Williams – Beuren syndrome
2008
A bacterial pathogen induces developmental slowing by high reactive oxygen species and mitochondrial dysfunction in Caenorhabditis elegans
2023 StandoutNobel
The role of dynamic conformational ensembles in biomolecular recognition
2009 Standout
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
2016 Standout
Proline: a multifunctional amino acid
2009 Standout
The Small Molecule Nobiletin Targets the Molecular Oscillator to Enhance Circadian Rhythms and Protect against Metabolic Syndrome
2016 Standout
Washing our hands of the congenital cytomegalovirus disease epidemic
2005
The Transcription Factor Myc Controls Metabolic Reprogramming upon T Lymphocyte Activation
2011 Standout
Arginine Metabolism: Boundaries of Our Knowledge
2007
Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension
2006
The role of autophagy in neurodegenerative disease
2013 Standout
Sunlight and Vitamin D
2013 Standout
Structure and function of the blood–brain barrier
2009 Standout
Hydrophilic-interaction chromatography for the separation of peptides, nucleic acids and other polar compounds
1990 Standout
Natural product agonists of peroxisome proliferator-activated receptor gamma (PPARγ): a review
2014 Standout
Global burden of disease and injury and economic cost attributable to alcohol use and alcohol-use disorders
2009 Standout
Neurological aspects of osteopetrosis
2003
Amino acids: metabolism, functions, and nutrition
2009 Standout
SCHEMA-Designed Variants of Human Arginase I and II Reveal Sequence Elements Important to Stability and Catalysis
2012 StandoutNobel
Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders
2007
Differential Roles of M1 and M2 Microglia in Neurodegenerative Diseases
2015 Standout
The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology
2007 Standout
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
2012
Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism
2002
Targeting multidrug resistance in cancer
2006 Standout
Mitochondrial membrane potential
2017
Suggested guidelines for the diagnosis and management of urea cycle disorders
2012
Ammonia-lowering activities and carbamoyl phosphate synthetase 1 (Cps1) induction mechanism of a natural flavonoid
2015
Williams–Beuren Syndrome
2010 Standout
Methodological quality and synthesis of case series and case reports
2018 Standout
Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice
2002
N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology
2007 Standout
The Human ATP-Binding Cassette (ABC) Transporter Superfamily
2001
Mitochondrial Membrane Permeabilization in Cell Death
2007 Standout
Mitochondrial transport proteins of the brain
2007
Fibulin-5/DANCE is essential for elastogenesis in vivo
2002 StandoutNatureNobel
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes
2015
Genetic disorders of the elastic fiber system
2000
The role of iron in brain ageing and neurodegenerative disorders
2014 Standout
Chemical modification of the mitochondrial ornithine/citrulline carrier by SH reagents: effects on the transport activity and transition from carrier to pore-like function
2003
Complex I Is the Major Site of Mitochondrial Superoxide Production by Paraquat
2007 Standout
Ultrafast dynamics of ligands within heme proteins
2007
Arabidopsis mitochondria have two basic amino acid transporters with partially overlapping specificities and differential expression in seedling development
2006
Recent advances in arginine metabolism
2003
Health Supervision for Children With Down Syndrome
2011 Standout
Hyperargininemia due to liver arginase deficiency
2004
Review and meta‐analysis of the epidemiology of congenital cytomegalovirus (CMV) infection
2007 Standout
Brain Energy Metabolism: Focus on Astrocyte-Neuron Metabolic Cooperation
2011 Standout
Peptidylgycine α‐amidating monooxygenase and copper: A gene–nutrient interaction critical to nervous system function
2010
Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes
2006
Comparative DNA Sequence Analysis of Mouse and Human Protocadherin Gene Clusters
2001
PPARγ in human and mouse physiology
2007
Neurovascular pathways to neurodegeneration in Alzheimer's disease and other disorders
2011 Standout
Global metabolic profiling procedures for urine using UPLC–MS
2010 Standout
Arginine metabolism and nutrition in growth, health and disease
2008 Standout
Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement
2014 Standout
2021 Guideline for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack: A Guideline From the American Heart Association/American Stroke Association
2021 Standout
Mechanisms of Cell Protection by Heme Oxygenase-1
2010 Standout
Tumour stem cells and drug resistance
2005 Standout
Enzyme replacement therapy for Anderson-Fabry disease
2016
Biomedical applications of copper ionophores
2020
Copper Active Sites in Biology
2014 Standout
DAF-16 Target Genes That Control C. elegans Life-Span and Metabolism
2003 StandoutScienceNobel
Toward simpler and faster genome-wide mutagenesis in mice
2007 StandoutNobel
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
1998
Activities of arginase I and II are limiting for endothelial cell proliferation
2002
Copper and Iron Disorders of the Brain
2007
The ABC Transporter Abcg2/Bcrp: Role in Hypoxia Mediated Survival
2005
Fluorescent Sensors for Measuring Metal Ions in Living Systems
2014 Standout
Thyroid Hormone Regulation of Metabolism
2014 Standout
Clinical Features and Management of Non-HIV–Related Lipodystrophy in Children: A Systematic Review
2016
Copper induces cell death by targeting lipoylated TCA cycle proteins
2022 StandoutScience
Elastic fibres
2002 Standout
Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns
2010
Profiling of human body fluids in healthy and diseased states using gas chromatography and mass spectrometry, with special reference to organic acids
1977
The DisGeNET knowledge platform for disease genomics: 2019 update
2019 Standout
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Reducing the global burden of hazardous alcohol use: a comparative cost-effectiveness analysis.
2004
Profiling of amino acids in body fluids and tissues by means of liquid chromatography
1986
Metals in Neurobiology: Probing Their Chemistry and Biology with Molecular Imaging
2008 Standout
Works of Robin Casey being referenced
Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
1999
Association of Infantile Neuroaxonal Dystrophy and Osteopetrosis: A Rare Autosomal Recessive Disorder
1995
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
2010
Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders
2002
Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
2006
Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: “Mitochondrial angiopathy”
2012
Mortality in Foetal Alcohol Syndrome
1997
Difficulties and pitfalls in the interpretation of screening tests for the detection of inborn errors of metabolism
1976
Hydrophobic Distal Pocket Affects NO−Heme Geminate Recombination Dynamics in Dehaloperoxidase and H64V Myoglobin
2006
Early treatment of Menkes disease with parenteral Cooper-Histidine: Long-term follow-up of four treated patients
1998
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
1999
Molecular and clinical correlation study of Williams‐Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
1999
Agalsidase Alfa and Agalsidase beta Have Similar Effects on Outcomes in Fabry disease– results from the canadian Fabry disease initiative
2011