Citation Impact
Citing Papers
Principles of the mitochondrial fusion and fission cycle in neurons
2013
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Mechanisms of resistance to daunorubicin in Ehrlich ascites tumor cells.
1978
Current knowledge on exosome biogenesis and release
2017 Standout
Potential for therapeutic manipulation of the UPR in disease
2013
Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length
1998
Genome-wide characterization of simple sequence repeats in cucumber (Cucumis sativus L.)
2010 Standout
Restless legs syndrome/Willis–Ekbom disease diagnostic criteria: updated International Restless Legs Syndrome Study Group (IRLSSG) consensus criteria – history, rationale, description, and significance
2014 Standout
The DNA-damage response in human biology and disease
2009 StandoutNature
Structure, expression and regulation of the cannabinoid receptor gene (CB1) in Huntington's disease transgenic mice
2004
Directed evolution of an orthogonal nucleoside analog kinase via fluorescence-activated cell sorting
2009
Parkinson disease
2017 Standout
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Reaction to topical capsaicin in spinal cord injury patients with and without central pain
2007
Intrinsically unstructured proteins and their functions
2005 Standout
Suicide and Suicidal Behavior
2008 Standout
Inhibition of endoplasmic reticulum stress counteracts neuronal cell death and protein aggregation caused by N-terminal mutant huntingtin proteins
2008
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference
2002
Sphingolipids and their metabolism in physiology and disease
2017 Standout
Modeling familial Alzheimer's disease with induced pluripotent stem cells
2011 StandoutNobel
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
A cell-based screen for drugs to treat Huntington's disease
2004
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
2004 StandoutNature
A role for mitochondria in NLRP3 inflammasome activation
2010 StandoutNature
A critical evaluation of the mechanisms of action proposed for the antitumor effects of the anthracycline antibiotics adriamycin and daunorubicin
1999 Standout
Ageing as a risk factor for neurodegenerative disease
2019 Standout
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
2004 Standout
Methods Used to Evaluate Pain Behaviors in Rodents
2017 Standout
Treatment of Obesity with Celastrol
2015 Standout
Small silencing RNAs: an expanding universe
2009 Standout
Lipid peroxidation and neurodegenerative disease
2011
Clinical features of Fabry's disease in Australian patients
2002
Advances of capillary electrophoresis in clinical and forensic analysis (1999-2000)
2001
An optimized lentiviral vector system for conditional RNAi and efficient cloning of microRNA embedded short hairpin RNA libraries
2017
Nature and cause of mitochondrial dysfunction in Huntington’s disease: focusing on huntingtin and the striatum
2010
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
2012
The Endocannabinoid System as an Emerging Target of Pharmacotherapy
2006 Standout
Molecular Genetics of Huntington’s Disease
1998
Protein aggregation and neurodegenerative disease
2004 Standout
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
Trans-splicing in C. elegans generates the negative RNAi regulator ERI-6/7
2008 StandoutNatureNobel
Red meat consumption and risk of type 2 diabetes: 3 cohorts of US adults and an updated meta-analysis
2011 Standout
Small fiber neuropathy in Fabry disease
2012
Trinucleotide repeat expansions and human genetic disease
1994
The Therapeutic Potential of Metformin in Neurodegenerative Diseases
2018
Association Study of Serotonin Transporter Gene VNTR Polymorphism and Mood Disorders, Onset Age and Suicide Attempts in a Chinese Sample
2003
Neurological manifestations in Fabry's disease
2007
Neurological manifestations of the oculodentodigital dysplasia syndrome
2002
Tubulin Polymerization-promoting Protein (TPPP/p25α) Promotes Unconventional Secretion of α-Synuclein through Exophagy by Impairing Autophagosome-Lysosome Fusion
2013
Major Depressive Disorder
2008 Standout
Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2
2010
Oxidative stress and mitochondrial dysfunction in Alzheimer's disease
2013 Standout
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
2014 Standout
Meta-analyses of genetic studies on major depressive disorder
2007
α-Synuclein interferes with the ESCRT-III complex contributing to the pathogenesis of Lewy body disease
2016
Features of trinucleotide repeat instability in vivo
2008
Meta-analysis of serotonin transporter polymorphisms and affective disorders
2004
Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities
2008 Standout
Thermal hypoaesthesia differentiates secondary restless legs syndrome associated with small fibre neuropathy from primary restless legs syndrome
2010
Trinucleotide expansion in haploid germ cells by gap repair
2001
Exploring protein fitness landscapes by directed evolution
2009 StandoutNobel
Computational design of orthogonal nucleoside kinases
2010 StandoutNobel
Mechanisms of trinucleotide repeat instability during human development
2010
Allodynia and hyperalgesia in neuropathic pain: clinical manifestations and mechanisms
2014
The molecular neurobiology of depression
2008 StandoutNature
Refined sgRNA efficacy prediction improves large- and small-scale CRISPR–Cas9 applications
2017 StandoutNobel
Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders
2015
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
Huntingtin aggregation and toxicity in Huntington's disease
2003
Genetics of Huntington disease
2017
Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees
1997
The integrated stress response
2016 Standout
Comprehensive Review on Alzheimer’s Disease: Causes and Treatment
2020 Standout
Adriamycin-induced changes in the surface membrane of sarcoma 180 ascites cells
1981
Microfluidics: Fluid physics at the nanoliter scale
2005 Standout
Nanozymes: Classification, Catalytic Mechanisms, Activity Regulation, and Applications
2019 Standout
Transcriptional Activation Modulated by Homopolymeric Glutamine and Proline Stretches
1994 Science
Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents
2012
Mice Deficient in Cellular Glutathione Peroxidase Show Increased Vulnerability to Malonate, 3-Nitropropionic Acid, and 1-Methyl-4-Phenyl-1,2,5,6-Tetrahydropyridine
2000 Standout
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
Neuropathic Pain: From Mechanisms to Treatment
2020 Standout
Classification of Intrinsically Disordered Regions and Proteins
2014 Standout
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size.
1997
Effects of adriamycin on surface properties of sarcoma 180 ascites cells
1976
The biology , function , and biomedical applications of exosomes
2020 StandoutScience
Metabolic Stress and Disorders Related to Alterations in Mitochondrial Fission or Fusion.
2013
Life cycle of connexins in health and disease
2006 Standout
The Genetic Defect Causing Huntington’s Disease: Repeated in Other Contexts?
1997
Review Article: Genetics of Alzheimer Disease
2010
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
2003
Lipid Peroxidation: Production, Metabolism, and Signaling Mechanisms of Malondialdehyde and 4-Hydroxy-2-Nonenal
2014 Standout
Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells
1986 Standout
Insulin is a Two-Edged Knife on the Brain
2009
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
The Anthracycline Antineoplastic Drugs
1981 Standout
Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with β-tubulin: relevance to Huntington's disease
2002
Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes
2001
2016
Instrumentation for trace detection of high explosives
2004 Standout
Works of Lis Hasholt being referenced
High-throughput analysis of Fragile X (CGG) n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis
1997
Novel Frameshift Mutation in a Heterozygous Woman with Fabry Disease and End-Stage Renal Failure
1996
Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1
1998
Huntington’s Disease Does Not Appear to Increase the Risk of Diabetes Mellitus
2009
Functional and structural nerve fiber findings in heterozygote patients with Fabry disease
2009
Drosophila deoxyribonucleoside kinase mutants with enhanced ability to phosphorylate purine analogs
2007
Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins
2004
Reduced gluconeogenesis and lactate clearance in Huntington's disease
2010
Molecular and behavioral analysis of the r6/1 huntington′s disease transgenic mouse
2003
4p16.3 haplotype modifying age at onset of Huntington disease
2009
Antisense downregulation of mutant huntingtin in a cell model
2003
Reversal of pathology in CHMP2B‐mediated frontotemporal dementia patient cells using RNA interference
2012
Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease
1995
Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21-p24
1997
Platelet serotonin transporters and the transporter gene in control subjects, unipolar patients and bipolar patients
2001
Small‐fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin
2006
Inhibition of Huntingtin Synthesis by Antisense Oligodeoxynucleotides
2000
Cells exposed to a huntingtin fragment containing an expanded polyglutamine tract show no sign of ion channel formation: Results arguing against the ion channel hypothesis
2002
Impaired Glucose Tolerance in the R6/1 Transgenic Mouse Model of Huntington’s Disease
2007
Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families
1993
Neuron‐specific RNA interference using lentiviral vectors
2009
A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment
2008
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women
2010
Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy
2014
Dysfunctional mitochondrial respiration in the striatum of the Huntington’s disease transgenic R6/2 mouse model
2013
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy
1995
A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.
1990
Cytogenetic investigations on an Ehrlich ascites tumor, and four sublines resistant to daunomycin, adriamycin, vincristine and vinblastine
2009