Citation Impact
Citing Papers
Protein Misfolding, Amyloid Formation, and Human Disease: A Summary of Progress Over the Last Decade
2017 Standout
Sleep Drives Metabolite Clearance from the Adult Brain
2013 StandoutScience
The phenomenology and treatment of interferon-induced depression
2004
Genetic Dissection of the Amyloid Precursor Protein in Developmental Function and Amyloid Pathogenesis
2010 StandoutNobel
Alzheimer's disease: synapses gone cold
2011
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
The amyloid precursor protein: beyond amyloid.
2006
Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations: J and W Haplogroups as High-Risk Factors
2006
ApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and Aβ Secretion
2017 Nobel
Synapses and Alzheimer's Disease
2012 StandoutNobel
Understanding Synapses: Past, Present, and Future
2008 StandoutNobel
Pericytes are required for blood–brain barrier integrity during embryogenesis
2010 StandoutNature
Clinical spectrum of CADASIL: a study of 7 families
1995
Untangling Genetic Risk for Alzheimer’s Disease
2017
Roles of the ankyrin repeats and C-terminal region of the mouse Notch1 intracellular region
1998 StandoutNobel
Alzheimer Mechanisms and Therapeutic Strategies
2012
Aβ Oligomers – a decade of discovery
2007 Standout
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
2007
The Blood-Brain Barrier in Health and Chronic Neurodegenerative Disorders
2008 Standout
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Mechanisms Underlying Inflammation in Neurodegeneration
2010 Standout
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies
2009
Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid β-peptide
2007 Standout
Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice
2014
Classification and basic pathology of Alzheimer disease
2009
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
apoE isoform–specific disruption of amyloid β peptide clearance from mouse brain
2008
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk
2004
A Hundred Years of Alzheimer's Disease Research
2006
Functional Classification and Experimental Dissection of Long Noncoding RNAs
2018 Standout
Guillain–Barré Syndrome
2012 Standout
Differential Lesion Patterns in CADASIL and Sporadic Subcortical Arteriosclerotic Encephalopathy: MR Imaging Study with Statistical Parametric Group Comparison
2001
Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels
2015
The Genetics of Alzheimer's Disease
2012
Mitochondrial DNA and disease
2005
CADASIL: A Critical Look at a Notch Disease
2006
Myocardial Infarction in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
2003
A gene for familial hemiplegic migraine maps to chromosome 19
1993
Multiple sclerosis
2008 Standout
TREM2 Lipid Sensing Sustains the Microglial Response in an Alzheimer’s Disease Model
2015 Standout
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels
2013 StandoutNobel
Super-Enhancers in the Control of Cell Identity and Disease
2013 Standout
Alzheimer Disease: An Update on Pathobiology and Treatment Strategies
2019 Standout
Diabetic Retinopathy
2012 Standout
Metazoan MicroRNAs
2018 Standout
Clan Genomics and the Complex Architecture of Human Disease
2011
Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases
2008
Rab5 Mediates an Amyloid Precursor Protein Signaling Pathway That Leads to Apoptosis
2007
Cognitive Alterations in Non-Demented CADASIL Patients
1998
Fibrosis and Stenosis of the Long Penetrating Cerebral Arteries: the Cause of the White Matter Pathology in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
2004
Impact of whole genome amplification on analysis of copy number variants
2008
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
1997
Rethinking schizophrenia
2010 StandoutNature
Flotillin-Dependent Clustering of the Amyloid Precursor Protein Regulates Its Endocytosis and Amyloidogenic Processing in Neurons
2008 StandoutNobel
Respiratory muscle weakness in peripheral neuropathies
2010
Alzheimer's disease
2006 Standout
The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivo
2007
‘The marvellous harmony of the nervous parts': The origins of multiple sclerosis
2004
Pathogenic Mutations Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Differently Affect Jagged1 Binding and Notch3 Activity via the RBP/JK Signaling Pathway
2004
Mechanism of Cerebral β-Amyloid Angiopathy: Murine and Cellular Models
2006
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: MR Imaging Findings at Different Ages—3rd–6th Decades
2003
Alzheimer's Disease
2010 Standout
Phenotype associated with APP duplication in five families
2006
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease
2016
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
2000
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
2010
The Amyloid State of Proteins in Human Diseases
2012 Standout
Three dimensions of the amyloid hypothesis: time, space and 'wingmen'
2015
Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
1995
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
2009
Transgenic Mice Expressing Mutant Notch3 Develop Vascular Alterations Characteristic of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
2003
The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism
2009 Standout
Notch3 Mutations in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a Mendelian Condition Causing Stroke and Vascular Dementia
1997
The phenotypic spectrum of CADASIL: Clinical findings in 102 cases
1998
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
2008
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
1993
Intracellular amyloid-β in Alzheimer's disease
2007 Standout
The road to restoring neural circuits for the treatment of Alzheimer's disease
2016 Nature
Tumour evolution inferred by single-cell sequencing
2011 StandoutNature
The molecular neurobiology of depression
2008 StandoutNature
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3v EGF-like repeat domains
2000
A Unique Microglia Type Associated with Restricting Development of Alzheimer’s Disease
2017 Standout
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
1996 StandoutNature
Single-cell transcriptomic analysis of Alzheimer’s disease
2019 StandoutNature
Neurovascular pathways to neurodegeneration in Alzheimer's disease and other disorders
2011 Standout
Dilation of Virchow‐Robin spaces in CADASIL
2006
Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis
2006
Increased App Expression in a Mouse Model of Down's Syndrome Disrupts NGF Transport and Causes Cholinergic Neuron Degeneration
2006 Standout
Soluble amyloid precursor protein (APP) regulates transthyretin and Klotho gene expression without rescuing the essential function of APP
2010 StandoutNobel
The amyloid hypothesis of Alzheimer's disease at 25 years
2016 Standout
New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature.
1995
CADASIL
2009 Standout
Monitoring Disease Progression in CADASIL With Diffusion Magnetic Resonance Imaging
2002
Lecanemab in Early Alzheimer’s Disease
2022 Standout
A Century of Alzheimer's Disease
2006 StandoutScience
Clinical Severity in CADASIL Related to Ultrastructural Damage in White Matter
1999
Common Pathological Processes and Transcriptional Pathways in Alzheimer's Disease and Type 2 Diabetes
2009
Cerebral Hemodynamics in CADASIL Before and After Acetazolamide Challenge Assessed With MRI Bolus Tracking
2000
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
Regulation of Caenorhabditis elegans neuronal polarity by heterochronic genes
2019 StandoutNobel
How neuroinflammation contributes to neurodegeneration
2016 StandoutScience
Alzheimer’s Disease: The Challenge of the Second Century
2011
Brain Stem MRI Signal Abnormalities in CADASIL
1999
Gene Duplication: A Drive for Phenotypic Diversity and Cause of Human Disease
2007
Pathogenesis of Leukoaraiosis
1997 Standout
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
De novo mutation in theNotch3 gene causing CADASIL
2000
Cortical Neuronal Apoptosis in CADASIL
2006
Notch Signaling: Cell Fate Control and Signal Integration in Development
1999 StandoutScience
Diffusion Tensor Imaging Study of Subcortical Gray Matter in CADASIL
2001
Cerebral Microbleeds in CADASIL
2002
Mitochondrial DNA Haplogroups Associated with Age-Related Macular Degeneration
2009
Amyolid precursor protein mediates presynaptic localization and activity of the high-affinity choline transporter
2007
Impaired Vascular Mechanotransduction in a Transgenic Mouse Model of CADASIL Arteriopathy
2004
Works of Frédéric Dubas being referenced
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
2005
mtDNA haplogroup J: a contributing factor of optic neuritis
1999
Autosomal dominant late adult onset distal leg myopathy
1998
Acute Delirium, Delusion, and Depression During IFN-β-1a Therapy for Multiple Sclerosis: A Case Report
2003
Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation
2000
Coincidence of two genetic forms of Charcot–Marie–Tooth disease in a single family
2004
Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study.
1993