Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
The X chromosome and fragile X mental retardation
2002
Recombinant Human DNA (Cytosine-5) Methyltransferase
1999 Nobel
Trinucleotide repeats: triggers for genomic disorders?
2010
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
1996
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
2007
The RNA Binding Protein Quaking Regulates Formation of circRNAs
2015 Standout
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
2010 Standout
The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence
2003
DNA methylation patterns and epigenetic memory
2002 Standout
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
Two Modes of Germline Instability at Human Minisatellite MS1 (Locus D1S7): Complex Rearrangements and Paradoxical Hyperdeletion
2003
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
2000
The DSIF Subunits Spt4 and Spt5 Have Distinct Roles at Various Phases of Immunoglobulin Class Switch Recombination
2012 StandoutNobel
Huntington's disease
2007 Standout
Pms2 is a genetic enhancer of trinucleotide CAG{middle dot}CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
2004
Genetic models of Parkinson disease
2008
Role of Replication and CpG Methylation in Fragile X Syndrome CGG Deletions in Primate Cells
2005
The Roles of PINK1, Parkin, and Mitochondrial Fidelity in Parkinson’s Disease
2015 Standout
Modelling brain diseases in mice: the challenges of design and analysis
2003
Ageing as a risk factor for neurodegenerative disease
2019 Standout
Slipped-strand DNAs formed by long (CAG)middle dot(CTG) repeats: slipped-out repeats and slip-out junctions
2002
Network medicine: a network-based approach to human disease
2010 Standout
New implications for the QUAKING RNA binding protein in human disease
2007
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Molecular genetics of spinocerebellar ataxia type 8 (SCA8)
2003
Protection of p27Kip1 mRNA by quaking RNA binding proteins promotes oligodendrocyte differentiation
2004
Cytokines and chemokines: At the crossroads of cell signalling and inflammatory disease
2014 Standout
The Histone Chaperone Spt6 Is Required for Activation-induced Cytidine Deaminase Target Determination through H3K4me3 Regulation
2012 StandoutNobel
NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies
2016
The molecular basis of common and rare fragile sites
2005
Cilia: Tuning in to the Cell's Antenna
2006
Demographic history and linkage disequilibrium in human populations
1997 StandoutNobel
DNA Methylation and Its Basic Function
2012 Standout
Trinucleotide repeats and neurodegenerative disease
2004
Repeat instability: mechanisms of dynamic mutations
2005
Neurological manifestations of the oculodentodigital dysplasia syndrome
2002
Long noncoding RNAs and human disease
2011 Standout
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
The role of iron in brain ageing and neurodegenerative disorders
2014 Standout
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
2007 Standout
Clonal evolution in cancer
2012 StandoutNature
Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA
1998
Alzheimer's disease and vascular dementia in developing countries: prevalence, management, and risk factors
2008 Standout
Non-B DNA structure-induced genetic instability and evolution
2009
Transcriptome-wide Identification of RNA-Binding Protein and MicroRNA Target Sites by PAR-CLIP
2010 Standout
DNA methylation and human disease
2005 Standout
Microsatellites: simple sequences with complex evolution
2004 Standout
Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population
2003
Model of autism: increased ratio of excitation/inhibition in key neural systems
2003 Standout
Ubiquitin–proteasome system dysfunction in Parkinson’s disease: current evidence and controversies
2007
How does parkin ligate ubiquitin to Parkinson's disease?
2004
Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities
2010
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
CADASIL
2009 Standout
Nonimmunoglobulin target loci of activation-induced cytidine deaminase (AID) share unique features with immunoglobulin genes
2012 StandoutNobel
Parkin-deficient mice are not a robust model of parkinsonism
2005
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Identification of Drosophila Mutants Altering Defense of and Endurance to Listeria monocytogenes Infection
2008
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
An Evolutionary View of the Mechanism for Immune and Genome Diversity
2012 StandoutNobel
Disease Tolerance as a Defense Strategy
2012 StandoutScience
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
1995
Oxidative stress, mitochondrial damage and neurodegenerative diseases.
2013 Standout
Life cycle of connexins in health and disease
2006 Standout
Religious Orders Study and Rush Memory and Aging Project
2018 Standout
COMPARATIVE PRIMATE GENOMICS
2004 StandoutNobel
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Evolutionary Comparison of the Mechanism of DNA Cleavage with Respect to Immune Diversity and Genomic Instability
2012 StandoutNobel
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy
2010 Standout
Oxidative Stress: A Key Modulator in Neurodegenerative Diseases
2019 Standout
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Works of Diego Lorenzetti being referenced
The neurological mutant quaking viable is Parkin deficient
2004
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
2000
Nicotinamide Mononucleotide Adenylyltransferase 2 (Nmnat2) Regulates Axon Integrity in the Mouse Embryo
2012
Linkage Disequilibrium Analysis of Friedreich's Ataxia in 140 Caucasian Families: Positioning of the Disease Locus and Evaluation of Allelic Heterogeneity
1993
Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations
1998
Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation
1998
The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia
1997
Deletion of the Parkin coregulated gene causes male sterility in the quaking viable mouse mutant
2004
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
1995