Citation Impact
Citing Papers
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs
2022 StandoutNobel
Astrocytes: biology and pathology
2009 Standout
Mass spectrometry‐based metabolomics
2006 Standout
Targeted resequencing of a genomic region influencing tameness and aggression reveals multiple signals of positive selection
2011 StandoutNobel
Autism and mitochondrial disease
2010
Parkinson's disease
2021 Standout
The Failing Heart — An Engine Out of Fuel
2007 Standout
Energetics, epigenetics, mitochondrial genetics
2009
Glut1 deficiency: Inheritance pattern determined by haploinsufficiency
2010
Disorders of carnitine transport and the carnitine cycle
2006
A Fifth of the Protein World: Rossmann-like Proteins as an Evolutionarily Successful Structural unit
2020
Mitochondrial Etiology of Neuropsychiatric Disorders
2017
Nitric Oxide and Peroxynitrite in Health and Disease
2007 Standout
Organization and Evolution of Brain Lipidome Revealed by Large-Scale Analysis of Human, Chimpanzee, Macaque, and Mouse Tissues
2015 StandoutNobel
The Endocannabinoid System as an Emerging Target of Pharmacotherapy
2006 Standout
Effects ofl -Carnitine, Erythritol and Betaine on Pro-inflammatory Markers in Primary Human Corneal Epithelial Cells Exposed to Hyperosmotic Stress
2014
Reactive oxygen species (ROS) as pleiotropic physiological signalling agents
2020 Standout
Primary and secondary alterations of neonatal carnitine metabolism
1999
Phenotypic differences in behavior, physiology and neurochemistry between rats selected for tameness and for defensive aggression towards humans
2007 StandoutNobel
Development, maintenance and disruption of the blood-brain barrier
2013 Standout
Dynamics and functions of lipid droplets
2018 Standout
Mitochondrial Membrane Permeabilization in Cell Death
2007 Standout
TFOS DEWS II Management and Therapy Report
2017 Standout
Statin-Associated Myopathy with Normal Creatine Kinase Levels
2002 Standout
The NADH‐ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism
2010
Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2
1998
Prenatal Valproate Exposure and Risk of Autism Spectrum Disorders and Childhood Autism
2013 Standout
Mutations in human monoamine-related neurotransmitter pathway genes
2008
Mitochondria and cancer
2012 Standout
Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
2007 Standout
Amyotrophic Lateral Sclerosis
2001 Standout
The modern pre-levodopa era of Parkinson's disease: insights into motor complications from sub-Saharan Africa
2014
Neurovascular pathways to neurodegeneration in Alzheimer's disease and other disorders
2011 Standout
Metabolic cardiomyopathies
2000
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
2003
Assessing mitochondrial dysfunction in cells
2011 Standout
The Role of Carnitine Supplementation during Valproic Acid Therapy
2000
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency
1999
Diagnosis and Treatment of Parkinson Disease
2020 Standout
Myocardial Fatty Acid Metabolism in Health and Disease
2010 Standout
Peroxisome proliferator-activated receptor δ promotes very low-density lipoprotein-derived fatty acid catabolism in the macrophage
2006
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies
2015
Treatment of carnitine deficiency
2003
Autism spectrum disorders—A genetics review
2011
Clinical Guidelines on the Identification, Evaluation, and Treatment of Overweight and Obesity in Adults--The Evidence Report. National Institutes of Health.
1998 Standout
Pivotal role of Harakiri in the induction and prevention of gentamicin-induced hearing loss
2005
Works of Roser Pons being referenced
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
1996
Mitochondrial myopathy simulating spinal muscular atrophy
1996
Mitochondrial DNA abnormalities and autistic spectrum disorders
2004
The spectrum of movement disorders in Glut‐1 deficiency
2010
Molecular and functional analysis ofSLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
2004
Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency
2000
Neonatal Blood Carnitine Concentrations: Normative Data by Electrospray Tandem Mass Spectometry
2003
Primary and Secondary Carnitine Deficiency Syndromes
1995
Levodopa‐induced dyskinesias in tyrosine hydroxylase deficiency
2013
Aromatic l -amino acid decarboxylase deficiency
2004