Standout Papers
Citation Impact
Citing Papers
In vivo imaging of hydrogen peroxide production in a murine tumor model with a chemoselective bioluminescent reporter
2010 StandoutNobel
De novo design of transmembrane β barrels
2021 StandoutScienceNobel
α-Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro
2010 StandoutScienceNobel
A Sulfilimine Bond Identified in Collagen IV
2009 StandoutScienceNobel
Parkinson-like syndrome induced by continuous MPTP infusion: Convergent roles of the ubiquitin-proteasome system and α-synuclein
2005 StandoutNobel
Transposition-Driven Genomic Heterogeneity in the Drosophila Brain
2013 StandoutScienceNobel
The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency
2008 StandoutScienceNobel
DJ-1, a novel regulator of the tumor suppressor PTEN
2005
Accelerated filament formation from tau protein with specific FTDP‐17 missense mutations
1999
AGGRESCAN: a server for the prediction and evaluation of "hot spots" of aggregation in polypeptides
2007
BatchPrimer3: A high throughput web application for PCR and sequencing primer design
2008
Discovery and functional interrogation of SARS-CoV-2 RNA-host protein interactions
2021 StandoutNobel
Hallmarks of Cancer: The Next Generation
2011 Standout
The DBHS proteins SFPQ, NONO and PSPC1: a multipurpose molecular scaffold
2016
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
2000 Standout
Expression of Transforming Growth Factor Type III Receptor in Vascular Endothelial Cells Increases Their Responsiveness to Transforming Growth Factor β2
1995
Phenotypic presentation of frontotemporal dementia with Parkinsonism‐chromosome 17 type P301S in a patient of Jewish‐Algerian origin
2003
Mammalian Fe–S cluster biogenesis and its implication in disease
2014
Wild-type PINK1 Prevents Basal and Induced Neuronal Apoptosis, a Protective Effect Abrogated by Parkinson Disease-related Mutations
2005
Gene-Targeting Technologies for the Study of Neurological Disorders
2004
A High-Resolution STS, EST, and Gene-Based Physical Map of the Hereditary Paraganglioma Region on Chromosome 11q23
1997
Presenilins are essential for regulating neurotransmitter release
2009 StandoutNatureNobel
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
2007
Role of Transforming Growth Factor β in Human Disease
2000 Standout
Mechanism and medical implications of mammalian autophagy
2018 Standout
The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration
2003
CD22 blockade restores homeostatic microglial phagocytosis in ageing brains
2019 StandoutNatureNobel
Oculopharyngeal Muscular Dystrophy
1999
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease
2006
Distinct Target-Derived Signals Organize Formation, Maturation, and Maintenance of Motor Nerve Terminals
2007
Cell biology of protein misfolding: The examples of Alzheimer's and Parkinson's diseases
2004
Microglial brain region−dependent diversity and selective regional sensitivities to aging
2016
Genetic Advances in the Study of Speech and Language Disorders
2010
Primer3—new capabilities and interfaces
2012 Standout
Juvenile Polyposis Occurring in Hereditary Hemorrhagic Telangiectasia
1999
Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors
2002
TauGene Mutation K257T Causes a Tauopathy Similar to Pick's Disease
2000
Familial paragangliomas: Linkage to chromosome 11q23 and clinical implications
1997
Identification of a microdeletion at the 7q33‐q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
2010
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A New Group of Tauopathies
1998
Genetic control of the circulating concentration of transforming growth factor type beta1
1999
Hereditary Hemorrhagic Telangiectasia
1995 Standout
Founder Effect at PGL1 in Hereditary Head and Neck Paraganglioma Families from The Netherlands
1998
Balancing Acts
2004 Standout
The muscular dystrophies
2002 Standout
From developmental disorder to heritable cancer: it's all in the BMP/TGF-β family
2003
Accumulation of Filamentous Tau in the Cerebral Cortex of Human Tau R406W Transgenic Mice
2005
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
2016 StandoutNobel
A murine model of hereditary hemorrhagic telangiectasia
1999
Age-Dependent Emergence and Progression of a Tauopathy in Transgenic Mice Overexpressing the Shortest Human Tau Isoform
1999
RNA-binding proteins in human genetic disease
2008
Part II: α-synuclein and its molecular pathophysiological role in neurodegenerative disease
2003
Primer3Plus, an enhanced web interface to Primer3
2007 Standout
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)
2004 Standout
Distal myopathies
1999
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
2009
Transforming growth factor-beta: Vasculogenesis, angiogenesis, and vessel wall integrity
1997
Synapse Loss and Microglial Activation Precede Tangles in a P301S Tauopathy Mouse Model
2007 Standout
Rare genetic mutations shed light on the pathogenesis of Parkinson disease
2003
The Genetic and Pathological Classification of Familial Frontotemporal Dementia
2001
What causes cell death in Parkinson's disease?
2009
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
2004
A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression
2005
Vascular morphogenesis: tales of two syndromes
2003
Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress
2004
Chromosomes, 11q and cancer: a review
1999
Repositioning the hereditary paraganglioma critical region on chromosome band 11q23
1999
Nigrostriatal Dopaminergic Deficits and Hypokinesia Caused by Inactivation of the Familial Parkinsonism-Linked Gene DJ-1
2005
Regulation of β-Adrenergic Receptor Signaling by S-Nitrosylation of G-Protein-Coupled Receptor Kinase 2
2007 StandoutNobel
A role of PIEZO1 in iron metabolism in mice and humans
2021 StandoutNobel
Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein
2000
DJ‐1 is present in a large molecular complex in human brain tissue and interacts with α‐synuclein
2005
α-Synuclein Cooperates with CSPα in Preventing Neurodegeneration
2005 StandoutNobel
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations
2003
Haemochromatosis
2018
Binding Affinity of Transforming Growth Factor-β for Its Type II Receptor Is Determined by the C-terminal Region of the Molecule
1996
Endoglin Is an Accessory Protein That Interacts with the Signaling Receptor Complex of Multiple Members of the Transforming Growth Factor-β Superfamily
1999
Assignment of Transforming Growth Factor β1 and β3 and a Third New Ligand to the Type I Receptor ALK-1
1999
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Chapter 4 Genetics and Molecular Pathophysiology of Nav1.7‐Related Pain Syndromes
2008
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family
2003
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
2005
Free radicals and antioxidants in normal physiological functions and human disease
2006 Standout
Cellular and Molecular Mechanisms of Pain
2009 StandoutNobel
Parkin-deficient Mice Exhibit Nigrostriatal Deficits but Not Loss of Dopaminergic Neurons
2003
A Functional Genetic Link between Distinct Developmental Language Disorders
2008
Atherosclerosis — An Inflammatory Disease
1999 Standout
Allelotype of head and neck paragangliomas: Allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL
1994
RNA-binding proteins in human genetic disease
2020
Tau gene mutation in familial progressive subcortical gliosis
1999
Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
2010
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
Paragangliomas of the head and neck region show complete loss of heterozygosity at 11 q22-q23 in chief cells and the flow-sorted dna aneuploid fraction
1998
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
1999
Tau protein isoforms, phosphorylation and role in neurodegenerative disorders11These authors contributed equally to this work.
2000 Standout
Genetics of Parkinson's disease and biochemical studies of implicated gene products: Commentary
2002
Non-B DNA Conformations, Genomic Rearrangements, and Human Disease
2004
Structure-based design of non-natural amino-acid inhibitors of amyloid fibril formation
2011 StandoutNatureNobel
Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs
2004
Genetics of Parkinson's disease and biochemical studies of implicated gene products
2002
Transgenic animal models of tauopathies
2004
The Putative Tumor Suppressors EXT1 and EXT2 Are Glycosyltransferases Required for the Biosynthesis of Heparan Sulfate
1998
Soluble endoglin contributes to the pathogenesis of preeclampsia
2006 Standout
Cdk5 Regulates the Phosphorylation of Tyrosine 1472 NR2B and the Surface Expression of NMDA Receptors
2008
Mammalian collagen IV
2008
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
1998
L166P Mutant DJ-1, Causative for Recessive Parkinson's Disease, Is Degraded through the Ubiquitin-Proteasome System
2003
Extracellular Matrix-Associated Transforming Growth Factor-β: Role in Cancer Cell Growth and Invasion
1998
Retarded Axonal Transport of R406W Mutant Tau in Transgenic Mice with a Neurodegenerative Tauopathy
2004
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
2009
The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia
2003 Standout
The Molecular Genetics of Hereditary Hemorrhagic Telangiectasia
1997
The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis
2005
Parkinson's Disease
2003 Standout
The molecular pathology of Alzheimer's disease
1991 Standout
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
2007
Tau is a candidate gene for chromosome 17 frontotemporal dementia
1998
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI
2003
Best Practices for Generating and Using Alpha-Synuclein Pre-Formed Fibrils to Model Parkinson’s Disease in Rodents
2018
Impaired dopamine release and synaptic plasticity in the striatum of PINK1 -deficient mice
2007
Abundant Tau Filaments and Nonapoptotic Neurodegeneration in Transgenic Mice Expressing Human P301S Tau Protein
2002
Heterogeneity of Endothelial Cells
1997
Endothelial-Mural Cell Signaling in Vascular Development and Angiogenesis
2009
TGF-β SIGNAL TRANSDUCTION
1998 Standout
Rare genetic mutations shed light on the pathogenesis of Parkinson disease
2003
Neurodegenerative Tauopathies
2001 Standout
The Amyloid Hypothesis of Alzheimer's Disease: Progress and Problems on the Road to Therapeutics
2002 StandoutScience
Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2
2010
Specificity, diversity, and regulation in TGF-beta superfamily signaling.
1999
Activin receptor-like kinase 1 modulates transforming growth factor-β1 signaling in the regulation of angiogenesis
2000
Up-regulation of endoglin on vascular endothelial cells in human solid tumors: implications for diagnosis and therapy.
1995
Functional mapping of disease susceptibility loci using cell biology
2006 StandoutNobel
Assembly of τ protein into Alzheimer paired helical filaments depends on a local sequence motif ( 306 VQIVYK 311 ) forming β structure
2000
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain
2004
Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin
2006
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
1999
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
2011 StandoutNobel
Double-knockout mice for α- and β-synucleins: Effect on synaptic functions
2004 StandoutNobel
Toxic Proteins in Neurodegenerative Disease
2002 Science
Defective Angiogenesis in Mice Lacking Endoglin
1999 Science
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
1996 Standout
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
1999 Nobel
Evaluation of 50 probands with early-onset Parkinson’s disease for Parkin mutations
2002
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
The 3D profile method for identifying fibril-forming segments of proteins
2006 StandoutNobel
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation
2000
Specificity, diversity, and regulation in TGF‐β superfamily signaling
1999
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
2000 StandoutScience
Mutational analysis of DJ-1 in Drosophila implicates functional inactivation by oxidative damage and aging
2006
The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization
2004
Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation
2009 StandoutScience
Endoglin modulates cellular responses to TGF-beta 1.
1996
Juvenile Polyposis Occurring in Hereditary Hemorrhagic Telangiectasia
1999
ß-Arrestin 2 Mediates Endocytosis of Type III TGF-ß Receptor and Down-Regulation of Its Signaling
2003 StandoutScienceNobel
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress
2005
Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.
1997
S -Nitrosylation of Parkin Regulates Ubiquitination and Compromises Parkin's Protective Function
2004 Science
Works of Peter Heutink being referenced
Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly
2005 Science
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
2007
Chasing genes in Alzheimer?s and Parkinson?s disease
2004
Molecular Analysis of Mutant and Wild-Type Tau Deposited in the Brain Affected by the FTDP-17 R406W Mutation
2001
Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder
2003
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
1998
FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation
1999
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11
1994
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
1999
DJ‐1 colocalizes with tau inclusions: A link between parkinsonism and dementia
2003
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
2005
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases
1999
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease
2002
Further Localization of the Genefor Hereditary Paragangliomasand Evidence for Linkage inUnrelated Families
1994
DJ-1 Transcriptionally Up-regulates the Human Tyrosine Hydroxylase by Inhibiting the Sumoylation of Pyrimidine Tract-binding Protein-associated Splicing Factor
2006
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson?s disease
2004
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
1992
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation
2003
Localization of autosomal recessive early‐onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
2002
High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands
1999
Drosophila DJ-1 Mutants Are Selectively Sensitive to Environmental Toxins Associated with Parkinson’s Disease
2005
Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
2006
The Primary Erythermalgia–Susceptibility Gene Is Located on Chromosome 2q31-32
2001
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism
2003
Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families
1997
Tau Pathology in Two Dutch Families with Mutations in the Microtubule-Binding Region of Tau
1998
Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson’s Disease
2015
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
1994 Standout
Somatic retrotransposition alters the genetic landscape of the human brain
2011 Nature
The PCR Suite
2004
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
2001
PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36
2001
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
1994
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
2013
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
2004
A Genome-Wide Search for Genes Involved in Type 2 Diabetes in a Recently Genetically Isolated Population From the Netherlands
2003
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
2003 StandoutScience
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly
2004