Citation Impact
Citing Papers
RNS2, a conserved member of the RNase T2 family, is necessary for ribosomal RNA decay in plants
2011
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA
2011
Chromosome Abnormalities and Genetic Counseling
2011
Spatiotemporal dynamics of PIEZO1 localization controls keratinocyte migration during wound healing
2021 StandoutNobel
Bulk RNA degradation by nitrogen starvation‐induced autophagy in yeast
2014 StandoutNobel
Best practice guidelines for molecular analysis in spinal muscular atrophy
2001
UMD (Universal Mutation Database): 2005 update
2005
Non-invasive monitoring of chronic liver disease via near-infrared and shortwave-infrared imaging of endogenous lipofuscin
2020 StandoutNobel
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
Mechanobiology of YAP and TAZ in physiology and disease
2017
Nrf2-Keap1 signaling in oxidative and reductive stress
2018 Standout
Synchronization Between Temporal and Parietal Cortex During Multimodal Object Processing in Man
1999 Standout
A census of human RNA-binding proteins
2014
Muscle specific kinase autoimmune myasthenia gravis in children: A case series
2013
The genetics of ageing
2010 StandoutNature
High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot
2000
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
Oral Anticoagulant Therapy
2012 Standout
Hallmarks of aging: An expanding universe
2023 Standout
The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm
2011
Triosephosphate isomerase deficiency: New insights into an enigmatic disease
2009
Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
2004 StandoutNobel
Infection-induced NETosis is a dynamic process involving neutrophil multitasking in vivo
2012 Standout
Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes
2006
Response synchronization in the visual cortex
1993
Mechanotransduction from the ECM to the genome: Are the pieces now in place?
2007
Triosephosphate isomerase deficiency: historical perspectives and molecular aspects
2000
Cerebromeningeal haemophagocytic lymphohistiocytosis
1992
Effects of extracellular matrix viscoelasticity on cellular behaviour
2020 StandoutNature
High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex
2002
HLH‐2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
2006 Standout
Diagnosis, management, and treatment of hepatitis C: An update # † ‡
2008 Standout
Tau in physiology and pathology
2015 Standout
Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome
2000
Irritable bowel syndrome
2016 Standout
Dissecting muscle and neuronal disorders in a Drosophila model of muscular dystrophy
2007 StandoutNobel
Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy
2011
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
Fibrosis development in early-onset muscular dystrophies: Mechanisms and translational implications
2016
Antithrombotic Therapy for VTE Disease
2012 Standout
Abnormal coagulation parameters are associated with poor prognosis in patients with novel coronavirus pneumonia
2020 Standout
Metazoan MicroRNAs
2018 Standout
Sex biases in the mutation rate
1998
A tense situation: forcing tumour progression
2009 Standout
Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
2009
Neuronal Synchrony: A Versatile Code for the Definition of Relations?
1999 Standout
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Chromosome 21 and Down syndrome: from genomics to pathophysiology
2004 Standout
Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis
1997
Rate coherence and event coherence in the visual cortex: a neuronal model of object recognition
1992
Nuclear mechanics during cell migration
2010
Sex Chromosomal Transposable Element Accumulation and Male-Driven Substitutional Evolution in Humans
2000 StandoutNobel
Meiotic recombination hot spots and cold spots
2001
Fine-scale recombination patterns differ between chimpanzees and humans
2005 StandoutNobel
Mechanistic implications of enhanced editing by a HyperTRIBE RNA-binding protein
2017 StandoutNobel
Correlated firing in sensory-motor systems
1995
Molecular basis of muscular dystrophies
2000
A Neutral Explanation for the Correlation of Diversity with Recombination Rates in Humans
2003 StandoutNobel
Health Supervision for Children With Down Syndrome
2011 Standout
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees
2002 StandoutNobel
T2 Family ribonucleases: ancient enzymes with diverse roles
2010
Peptidylgycine α‐amidating monooxygenase and copper: A gene–nutrient interaction critical to nervous system function
2010
Excitatory actions of gaba during development: the nature of the nurture
2002 Standout
A practical guide to hydrogels for cell culture
2016 Standout
Demyelinating peripheral neuropathy associated with hemophagocytic lymphohistiocytosis. An immuno-electron microscopic study
2004
Chimeric antigen receptor T-cell therapy — assessment and management of toxicities
2017 Standout
Segmental duplications: an 'expanding' role in genomic instability and disease
2001
Increased App Expression in a Mouse Model of Down's Syndrome Disrupts NGF Transport and Causes Cholinergic Neuron Degeneration
2006 Standout
Myasthenia gravis: subgroup classification and therapeutic strategies
2015 Standout
The peripheral myelin protein 22 and epithelial membrane protein family
2000
Hydrogels as extracellular matrix mimics for 3D cell culture
2009 Standout
Transfusion thresholds and other strategies for guiding allogeneic red blood cell transfusion
2016 Standout
MOLECULAR MECHANISMS FOR GENOMIC DISORDERS
2002
Copper Active Sites in Biology
2014 Standout
The Posttranslational Processing of Prelamin A and Disease
2009
Molecular Pathology of Laminopathies
2021
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
Golgi‐mediated Glycosylation Determines Residency of the T2 RNase Rny1p in Saccharomyces cerevisiae
2013
Cross-Correlation Study of the Temporal Interactions Between Areas V1 and V2 of the Macaque Monkey
1999
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
THE GENETIC BASIS FOR CARDIAC REMODELING
2005
How I treat hemophagocytic lymphohistiocytosis
2011
Mechanisms of Muscle Degeneration, Regeneration, and Repair in the Muscular Dystrophies
2008
Myelination of the Nervous System: Mechanisms and Functions
2014
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.
2013
The Nuclear Envelope and Human Disease
2004
Mechanoregulation of Wound Healing and Skin Homeostasis
2016
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
2007
COVID-19 and its implications for thrombosis and anticoagulation
2020 Standout
Claudins and the Modulation of Tight Junction Permeability
2013 Standout
Development of EEG and daytime sleep patterns in normal full-term infants during the first 3 months of life: Longitudinal observations
1980
Irritable bowel syndrome: an integrated explanatory model for clinical practice
2015
The Variable Discharge of Cortical Neurons: Implications for Connectivity, Computation, and Information Coding
1998 Standout
Structural basis of cortical synchronization. I. Three types of interhemispheric coupling
1995
The return of metabolism: biochemistry and physiology of the pentose phosphate pathway
2014 Standout
Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells
2010 StandoutNobel
Hematological Problems in Pediatric Intensive Care
2013 Standout
Computational design of a red fluorophore ligase for site-specific protein labeling in living cells
2014 StandoutNobel
Platelet mechanosensing of substrate stiffness during clot formation mediates adhesion, spreading, and activation
2014
Works of M. Mayer being referenced
Randomised clinical trial: symptoms of the irritable bowel syndrome are improved by a psycho‐education group intervention
2012
Severe neonatal myasthenia due to maternal anti-MuSK antibodies
2008
Epilepsy in Menkes Disease: Analysis of Clinical Stages
2006
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
2007
Fine mapping of de novo CMT1A and HNPP rearrangements within CMTIA-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination
1998
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
2009
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
2004
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
2003
Two types of neuronal synchrony in monkey striate cortex
1990
Cellular micro-environments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors
2014
Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36
1998
Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up
2009
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
2000
[The EEG of the newborn infant at term. Comparative study in the newborn infant in cephalic presentation and breech presentation].
1960
Amyotrophie spinale infantile Étude multicentrique prospective et longitudinale de 168 cas suivis 4 ans
2005
Peripheral neuropathy associated with erythrophagocytic lymphohistiocytosis.
1988
Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).
2000