Citation Impact
Citing Papers
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
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Genetic Dissection of the Amyloid Precursor Protein in Developmental Function and Amyloid Pathogenesis
2010 StandoutNobel
Neuroinflammation in Parkinson's disease: a target for neuroprotection?
2009 Standout
A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population
2001
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
1999
Presenilins are essential for regulating neurotransmitter release
2009 StandoutNatureNobel
Extracellular vesicles round off communication in the nervous system
2016
mTOR Signaling in Growth Control and Disease
2012 Standout
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
5′ Splice Site Mutations in tau Associated with the Inherited Dementia FTDP-17 Affect a Stem-Loop Structure That Regulates Alternative Splicing of Exon 10
1999
Meta-analysis of risk factors for posttraumatic stress disorder in trauma-exposed adults.
2000 Standout
Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
2003
FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation
1999
Tau haplotypes regulate transcription and are associated with Parkinson's disease
2004
Mechanisms Underlying Inflammation in Neurodegeneration
2010 Standout
Tau protein pathology in neurodegenerative diseases
1998
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
1999
C-terminal ECFP Fusion Impairs Synaptotagmin 1 Function
2004 StandoutNobel
A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17
2006
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
2006
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
1999
Genetics of Parkinson's disease
1997
Molecular pathogenesis of Parkinson disease: insights from genetic studies
2009
The Relationship between Lewy Body Disease, Parkinson's Disease, and Alzheimer's Disease
2003
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
Tau phosphorylation and aggregation in Alzheimer's disease pathology
2006
Autophagy fights disease through cellular self-digestion
2008 StandoutNature
Physiology and Pathophysiology of α‐Synuclein: Cell Culture and Transgenic Animal Models Based on a Parkinson's Disease‐associated Protein
2000
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A New Group of Tauopathies
1998
Clinical genetic analysis of Parkinson's disease in the contursi kindred
1996
A Hundred Years of Alzheimer's Disease Research
2006
Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17
1998
A Broken α-Helix in Folded α-Synuclein
2003 StandoutNobel
Mitochondrial diseases
2012
Dementia of Frontal Type and Dementias with Subcortical Gliosis
1998
Deciphering the role of heterozygous mutations in genes associated with parkinsonism
2007
Developmental loss and resistance to MPTP toxicity of dopaminergic neurones in substantia nigra pars compacta of γ‐synuclein, α‐synuclein and double α/γ‐synuclein null mutant mice
2004
Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22
2000
Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?
2011
CADASIL: A Critical Look at a Notch Disease
2006
Autophagy: Renovation of Cells and Tissues
2011 Standout
Alzheimer's Disease: The Amyloid Cascade Hypothesis
1992 StandoutScience
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval
2002
Decoding ALS: from genes to mechanism
2016 StandoutNature
Characterization of Pathology in Transgenic Mice Over-Expressing Human Genomic and cDNA Tau Transgenes
2000
Prominent Axonopathy in the Brain and Spinal Cord of Transgenic Mice Overexpressing Four-Repeat Human tau Protein
1999
Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases
2008
Parkinson's disease
2015 Standout
The Future of Memory: Remembering, Imagining, and the Brain
2012 StandoutNobel
Clinical and Pathological Diagnosis of Frontotemporal Dementia
2001
Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia
2001
Parkinson's disease dementia: convergence of α-synuclein, tau and amyloid-β pathologies
2013
Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism
2006
α-Synuclein Cooperates with CSPα in Preventing Neurodegeneration
2005 StandoutNobel
The roles of intracellular protein-degradation pathways in neurodegeneration
2006 Nature
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Identification of a novel family of presenilin homologues
2002
Neuropathology of Alzheimer's disease and other dementias
2001
Advances in the genetics of Parkinson disease
2013
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
2005
A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3‐splice site mutation in the tau gene: clinical and pathological features
2000
Molecular pathogenesis of movement disorders: are protein aggregates a common link in neuronal degeneration?
1999
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)
1998
Methods in Mammalian Autophagy Research
2010 Standout
Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p
2000
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease
2005
Alzheimer's Disease
2010 Standout
Filamentous nerve cell inclusions in neurodegenerative diseases
1998
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands
1999
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein
2000
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
1999
Abnormal Tau-Containing Filaments in Neurodegenerative Diseases
2000
From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation
1999
Tau protein isoforms, phosphorylation and role in neurodegenerative disorders11These authors contributed equally to this work.
2000 Standout
Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism
1998
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families
1997
The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism
2009 Standout
Tau Pathology in Two Dutch Families with Mutations in the Microtubule-Binding Region of Tau
1998
Cdk5 Regulates the Phosphorylation of Tyrosine 1472 NR2B and the Surface Expression of NMDA Receptors
2008
Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference
1997
Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans
1999
A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease
1997
Familial Multiple-System Tauopathy with Presenile Dementia Is Localized to Chromosome 17
1997
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy
2000
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations
2013
Amyotrophic Lateral Sclerosis
2001 Standout
Frontotemporal dementia: A review
2002
The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia
2003 Standout
Pathways towards and away from Alzheimer's disease
2004 StandoutNature
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
2010
Mitochondrial deafness
2007
Parkinson's Disease
2003 Standout
Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene
2000
The molecular pathology of Alzheimer's disease
1991 Standout
The genetics of disorders withsynuclein pathology and parkinsonism
1999
Sequence Analysis of the Entire Mitochondrial Genome in Parkinson's Disease
2002
Tau is a candidate gene for chromosome 17 frontotemporal dementia
1998
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
2006
Impaired dopamine release and synaptic plasticity in the striatum of PINK1 -deficient mice
2007
A Fluorogenic Aryl Fluorosulfate for Intraorganellar Transthyretin Imaging in Living Cells and in Caenorhabditis elegans
2015 StandoutNobel
Significant association between the tau gene A0/A0 genotype and Parkinson's disease
2000
The genetics of P arkinson's disease: Progress and therapeutic implications
2013
EPIDEMIOLOGY OF NEURODEGENERATION
2003
Neurodegenerative Tauopathies
2001 Standout
The Amyloid Hypothesis of Alzheimer's Disease: Progress and Problems on the Road to Therapeutics
2002 StandoutScience
Exosomal cellular prion protein drives fibrillization of amyloid beta and counteracts amyloid beta‐mediated neurotoxicity
2015
A Century of Alzheimer's Disease
2006 StandoutScience
What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease
2011
Practice parameter: Management of dementia (an evidence-based review) [RETIRED]
2001 Standout
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene
2000
Mutations causing neurodegenerative tauopathies
2004
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
1997 StandoutScience
Progressive supranuclear palsy and tau hyperphosphorylation in a patient with a C212Y parkin mutation
2002
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy
2000
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
1999
Inflammatory Blockade Restores Adult Hippocampal Neurogenesis
2003 StandoutScience
From genetics to pathology: tau and a–synuclein assemblies in neurodegenerative diseases
2001
Double-knockout mice for α- and β-synucleins: Effect on synaptic functions
2004 StandoutNobel
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
1998 Nobel
How neuroinflammation contributes to neurodegeneration
2016 StandoutScience
Meta-analysis of risk factors for posttraumatic stress disorder in trauma-exposed adults.
2000 Standout
The biology , function , and biomedical applications of exosomes
2020 StandoutScience
Tau Suppression in a Neurodegenerative Mouse Model Improves Memory Function
2005 StandoutScience
Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
1996 Science
The tau gene A0 allele and progressive supranuclear palsy
1999
Role of the hippocampus in remembering the past and imagining the future
2010
Impaired Degradation of Mutant α-Synuclein by Chaperone-Mediated Autophagy
2004 StandoutScience
Recent advances in the genetics and pathogenesis of Parkinson disease
2002
The Caenorhabditis elegans IMPAS gene, imp-2, is essential for development and is functionally distinct from related presenilins
2004 StandoutNobel
Reducing Endogenous Tau Ameliorates Amyloid ß-Induced Deficits in an Alzheimer's Disease Mouse Model
2007 StandoutScience
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17
1998
Effects of frontotemporal dementia FTDP‐17 mutations on heparin‐induced assembly of tau filaments
1999
Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity
2005
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
2003 StandoutScience
Impairment of the Ubiquitin-Proteasome System by Protein Aggregation
2001 StandoutScience
Works of Timothy Lynch being referenced
Parkinsonism, FXTAS, and FMR1 premutations
2004
Lrrk2 pathogenic substitutions in Parkinson's disease
2005
Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21
1996
EFNS guidelines on the molecular diagnosis of mitochondrial disorders
2009
Potassium Channel Antibody–Associated Encephalopathy Presenting With a Frontotemporal Dementia–like Syndrome
2007
Exosomes neutralize synaptic-plasticity-disrupting activity of Aβ assemblies in vivo
2013
Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations
2005
UCHL‐1 is not a Parkinson's disease susceptibility gene
2006
Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy
1999
Familial genes in sporadic disease: Common variants of α-synuclein gene associate with Parkinson's disease
2007
Parkin Disease
2013
Clinical genetics of familial progressive supranuclear palsy
1999
Abnormal microtubule packing in processes of SF9 cells expressing the FTDP‐17 V337M tau mutation
1999
Rapidly progressive autosomal dominant Parkinsonism and dementia with Pallido-Ponto-Nigral Gegeneration (PPND) and Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex (DDPAC) are clinically distinct conditions that are both linked to 17q21-22
1997
No pathogenic mutations in the persyn gene in Parkinson's disease
1999
Low frequency of pathogenic mutations in the ubiquitin carboxyterminal hydrolase gene in familial Parkinsonʼs disease
1999
Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
2004
Low frequency of α‐synuclein mutations in familial Parkinson's disease
1998
Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish
2004
Genetic variation of Omi/HtrA2 and Parkinson's disease
2008
Frequency oftau mutations in three series of non-Alzheimer's degenerative dementia
1999
The neuropathology of chromosome 17‐linked dementia
1996
Parkin-proven disease
2003
PINK1 (PARK6) associated Parkinson disease in Ireland
2004
FRONTO-TEMPORAL DEMENTIA WITH PICK-LIKE BODIES IN AN IRISH-AMERICAN FAMILY – NEUROPATHOLOGIC FINDINGS
1995
Long‐term traumatic stress reactions in British Falklands War veterans
1993
Fatal presentation of ornithine transcarbamylase deficiency in a 62‐year‐old man and family studies
2004
Hereditary dysphasic disinhibition dementia A frontotemporal dementia linked to 17 q21‐‐22
1998
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.
1994
Evaluation of 50 probands with early-onset Parkinson’s disease for Parkin mutations
2002
The Natural History of CADASIL
1999
CADASIL in a North American family
1998
Clinical characteristics of a family with chromosome 17‐linked disinhibition‐dementia‐ parkinsonism‐amyotrophy complex
1994
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy
2000