Citation Impact
Citing Papers
Suppression of Oxidative Stress by β-Hydroxybutyrate, an Endogenous Histone Deacetylase Inhibitor
2012 Science
Human Induced Pluripotent Stem Cells Free of Vector and Transgene Sequences
2009 StandoutScience
Lysine Acetylation Targets Protein Complexes and Co-Regulates Major Cellular Functions
2009 StandoutScience
Statistical significance for genomewide studies
2003 Standout
Ferroptosis regulation by the NGLY1/NFE2L1 pathway
2022 StandoutNobel
Regulation of alternative splicing by a transcriptional enhancer through RNA pol II elongation
2002 StandoutNobel
Expansive discovery of chemically diverse structured macrocyclic oligoamides
2024 StandoutScienceNobel
Nrf2-Keap1 pathway promotes cell proliferation and diminishes ferroptosis
2017
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens
2011
Can visco-elastic phase separation, macromolecular crowding and colloidal physics explain nuclear organisation?
2007
System xc− and Thioredoxin Reductase 1 Cooperatively Rescue Glutathione Deficiency
2010
Evidence that fragile X mental retardation protein is a negative regulator of translation
2001
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases
2000
Breast cancer
2016 Standout
Ferroptosis as a p53-mediated activity during tumour suppression
2015 StandoutNature
When the Message Goes Awry
2001
Mitochondrial myopathy simulating spinal muscular atrophy
1996
Influence of Metabolism on Epigenetics and Disease
2013 StandoutNobel
Epigenetic regulation of aging stem cells
2011
Are Rare Variants Responsible for Susceptibility to Complex Diseases?
2001
Mechanisms Underlying Inflammation in Neurodegeneration
2010 Standout
Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice
2008
The Spliceosome: Design Principles of a Dynamic RNP Machine
2009 Standout
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
2002 Standout
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA
2001
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
2000
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
Ferroptosis turns 10: Emerging mechanisms, physiological functions, and therapeutic applications
2022 Standout
Pharmacology of a Central Nervous System Delivered 2′-O-Methoxyethyl–Modified Survival of Motor Neuron Splicing Oligonucleotide in Mice and Nonhuman Primates
2014
Genome-Scale CRISPR-Mediated Control of Gene Repression and Activation
2014 Standout
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
2016 StandoutNobel
RNA-binding proteins in human genetic disease
2008
Immunogenicity of induced pluripotent stem cells
2011 StandoutNature
The role of SMN in spinal muscular atrophy
2000
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
2007 Standout
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
SMN Is Required for Sensory-Motor Circuit Function in Drosophila
2012
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
1999
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
2002
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
2001
Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
2009
The oxidative stress-inducible cystine/glutamate antiporter, system x c − : cystine supplier and beyond
2011
RNA and Disease
2009
Paracrine Induction of HIF by Glutamate in Breast Cancer: EglN1 Senses Cysteine
2016 StandoutNobel
Arthrogryposis: A Review and Update
2009
Expansion of the eukaryotic proteome by alternative splicing
2010 StandoutNature
Astrocytes: a central element in neurological diseases
2015
Glutamate Signaling in Benign and Malignant Disorders: Current Status, Future Perspectives, and Therapeutic Implications
2013
Malignant Gliomas in Adults
2008 Standout
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Alternative splicing: multiple control mechanisms and involvement in human disease
2002
An ~140-kb deletion associated with feline spinal muscular atrophy implies an essentialLIX1function for motor neuron survival
2006
Therapeutic application of histone deacetylase inhibitors for central nervous system disorders
2008
Insights into RNA Biology from an Atlas of Mammalian mRNA-Binding Proteins
2012 Standout
Induced pluripotent stem cells from a spinal muscular atrophy patient
2008 Nature
Disruption of xCT inhibits cell growth via the ROS/autophagy pathway in hepatocellular carcinoma
2011
RNA-binding proteins in human genetic disease
2020
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
2000
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
Genome architecture, rearrangements and genomic disorders
2002
A Fresh Look at iPS Cells
2009 StandoutNobel
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
Oxidative stress in developmental brain disorders
2009
Correlation between severity and SMN protein level in spinal muscular atrophy
1997 Standout
The Noncoding RNA Revolution—Trashing Old Rules to Forge New Ones
2014 Standout
Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon
2007
SR Proteins and Related Factors in Alternative Splicing
2007
Ferroptosis: mechanisms, biology and role in disease
2021 Standout
Linking pathways in the developing and aging brain with neurodegeneration
2014
The Hallmarks of Aging
2013 Standout
Cdk5 Regulates the Phosphorylation of Tyrosine 1472 NR2B and the Surface Expression of NMDA Receptors
2008
Parkinson's Disease Patient-Derived Induced Pluripotent Stem Cells Free of Viral Reprogramming Factors
2009 Standout
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
2010
Amyotrophic Lateral Sclerosis
2001 Standout
TMEM41B Is a Pan-flavivirus Host Factor
2020 StandoutNobel
Selective Inhibition of Hypoxia-Inducible Factor (HIF) Prolyl-Hydroxylase 1 Mediates Neuroprotection against Normoxic Oxidative Death via HIF- and CREB-Independent Pathways
2009 StandoutNobel
Organoid single-cell genomic atlas uncovers human-specific features of brain development
2019 StandoutNatureNobel
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
The evolution of gene expression levels in mammalian organs
2011 StandoutNatureNobel
Modulation of Survival Motor Neuron Pre-mRNA Splicing by Inhibition of Alternative 3′ Splice Site Pairing
2001
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
2011
Therapeutic Application of Noncytotoxic Molecular Targeted Therapy in Gliomas: Growth Factor Receptors and Angiogenesis Inhibitors
2008
Molecular Basis of Genetic Heterogeneity: Role of the Clinical Neurologist
1998
Genomes in Focus: Development and Applications of CRISPR‐Cas9 Imaging Technologies
2017 StandoutNobel
Diagnosis and Treatment of Recurrent High-Grade Astrocytoma
2006
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
Recent Stem Cell Advances: Induced Pluripotent Stem Cells for Disease Modeling and Stem Cell–Based Regeneration
2010 StandoutNobel
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals
2022 StandoutScienceNobel
How neuroinflammation contributes to neurodegeneration
2016 StandoutScience
A Functional Interaction between the Survival Motor Neuron Complex and RNA Polymerase II
2001
A novel nuclear structure containing the survival of motor neurons protein.
1996
Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex
2018
SLC7A11 expression is associated with seizures and predicts poor survival in patients with malignant glioma
2015
Nuclear repartitioning of galectin-1 by an extracellular glycan switch regulates mammary morphogenesis
2016 StandoutNobel
Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM
2001
Spinal muscular atrophy: Diagnosis and management in a new therapeutic era
2014
A yeast‐based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1
2020
Splicing of a Critical Exon of Human Survival Motor Neuron Is Regulated by a Unique Silencer Element Located in the Last Intron
2006
Structural Dynamics of Eukaryotic Chromosome Evolution
2003 StandoutScience
Chemistry and Biology Of Multicomponent Reactions
2012 Standout
Htra2-β 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 ( SMN2 )
2000
Cyclic Tetrapeptides from Nature and Design: A Review of Synthetic Methodologies, Structure, and Function
2019
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Treatment of spinal muscular atrophy by sodium butyrate
2001
Liquid phase condensation in cell physiology and disease
2017 StandoutScience
Works of Eric Hahnen being referenced
Histone deacetylase inhibitors increase neuronal differentiation in adult forebrain precursor cells
2007
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
2018
In vitro and ex vivo evaluation of second‐generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
2006
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
2010
Spinal Muscular Atrophy and Therapeutic Prospects
2006
Dissection of mitogenic and neurodegenerative actions of cystine and glutamate in malignant gliomas
2010
Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene
1996
Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)
1997
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
2006
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals
1995
Small interfering RNA–mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema
2008
Histone deacetylase inhibitors: possible implications for neurodegenerative disorders
2008
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
2008
Low proliferation and differentiation capacities of adult hippocampal stem cells correlate with memory dysfunction in humans
2010
Spinal Muscular Atrophy: From Gene to Therapy
2006
Suberoylanilide hydroxamic acid (SAHA) has potent anti‐glioma properties in vitro, ex vivo and in vivo
2005
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs
1995
SMN oligomerization defect correlates with spinal muscular atrophy severity
1998
Clinical Spectrum and Diagnostic Criteria of Infantile Spinal Muscular Atrophy: Further Delineation on the Basis of SMN Gene Deletion Findings
1996
Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling
1999
Deep sequencing reveals increased DNA methylation in chronic rat epilepsy
2013
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
2009
Pathological complete response (pCR) rates after carboplatin-containing neoadjuvant chemotherapy in patients with germline BRCA (gBRCA) mutation and triple-negative breast cancer (TNBC): Results from GeparSixto.
2014
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.
1996
De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling
1997
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
1999