Citation Impact
Citing Papers
Alteration of enzyme specificity by computational loop remodeling and design
2009 StandoutNobel
Macrophage metabolic reprogramming during chronic lung disease
2020
Targeted resequencing of a genomic region influencing tameness and aggression reveals multiple signals of positive selection
2011 StandoutNobel
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry
2002
Parkinson disease
2017 Standout
Substrate Mimicry in an Activity‐Based Probe That Targets the Nitrilase Family of Enzymes
2006
Parkinson's disease
2021 Standout
The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate
2010 Standout
Congenital Disorders of Glycosylation: A Review
2002
Diagnostic delay in Parkinson's disease caused by PRKN mutations
2019
Ageing as a risk factor for neurodegenerative disease
2019 Standout
Macrophages in immunoregulation and therapeutics
2023 Standout
Inflammation in Wound Repair: Molecular and Cellular Mechanisms
2007 Standout
Protein glycosylation in disease: new insights into the congenital muscular dystrophies
2003
Development and developmental disorders of the human cerebellum
2003
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
2009 StandoutNature
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Metabonomics: a platform for studying drug toxicity and gene function
2002 Standout
What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer
2013 StandoutNobel
Biological roles of glycans
2016 Standout
Epidemiology of Parkinson’s disease
2017 Standout
Brain injury in premature infants: a complex amalgam of destructive and developmental disturbances
2008 Standout
Gas chromatography/flame ionisation detection mass spectrometry for the detection of endogenous urine metabolites for metabonomic studies and its use as a complementary tool to nuclear magnetic resonance spectroscopy
2006 StandoutNobel
Dihydropyrimidine Accumulation Is Required for the Epithelial-Mesenchymal Transition
2014
Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)
2000
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d ‐2‐hydroxyglutaric aciduria
2002
Pediatric Idiopathic Intracranial Hypertension
2007
β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine
2001
Toward a definition of childhood dystonia
2004
EMT: 2016
2016 Standout
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis
2016
Genetics of Parkinson's disease
2016
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
2003
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
1999
Pediatric Idiopathic Intracranial Hypertension
2007
Impairment of Skin Wound Healing in β-1,4-Galactosyltransferase-Deficient Mice with Reduced Leukocyte Recruitment
2004
Pyrimidine pathways in health and disease
2005
Mutations in human monoamine-related neurotransmitter pathway genes
2008
Utility and implications of exome sequencing in early‐onset Parkinson's disease
2018
A Putative Src Homology 3 Domain Binding Motif but Not the C-terminal Dystrophin WW Domain Binding Motif Is Required for Dystroglycan Function in Cellular Polarity in Drosophila
2007 StandoutNobel
ReviewIs Serum Gamma Glutamyltransferase a Marker of Oxidative Stress?
2004
Pediatric Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)
2010
NAFLD: A multisystem disease
2015 Standout
Functional Proteomic and Structural Insights into Molecular Recognition in the Nitrilase Family Enzymes
2008
In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish
2008 StandoutScienceNobel
Rational Tuning of Fluorobenzene Probes for Cysteine‐Selective Protein Modification
2018 StandoutNobel
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
2000
Substrate Mimicry in an Activity‐Based Probe That Targets the Nitrilase Family of Enzymes
2006
Revised diagnostic criteria for the pseudotumor cerebri syndrome in adults and children
2013 Standout
Rational Tuning of Fluorobenzene Probes for Cysteine‐Selective Protein Modification
2018 StandoutNobel
Congenital Disorders of Glycosylation
2017
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
2018
Genotype‐phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review
2018
Investigating the functional link between TMEM165 and SPCA1
2019 StandoutNobel
A report: the definition and classification of cerebral palsy April 2006
2007 Standout
Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review
2006
Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family
2007
Works of Birgit Assmann being referenced
cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding β-ureidopropionase
1999
Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia
2003
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
2003
Congenital Disorder of Glycosylation IId (CDG-IId) - A New Entity: Clinical Presentation with Dandy-Walker Malformation and Myopathy
2002
Synthesis and metabolism of leukotrienes in γ-glutamyl transpeptidase deficiency
2004
Pseudotumor cerebri as an important differential diagnosis of papilledema in children
2005
A New Subtype of a Congenital Disorder of Glycosylation (CDG) with Mild Clinical Manifestations
2002
β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
2004
3‐Ureidopropionate contributes to the neuropathology of 3‐ureidopropionase deficiency and severe propionic aciduria: A hypothesis
2001
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force
2017
Phosphomannomutase deficiency is the main cause of carbohydrate‐deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
1997
Detection of β‐ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level
2001
Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?
1997
A new case of CDG‐x with stereotyped dystonic hand movements and optic atrophy
2002
2016