Citation Impact
Citing Papers
Visualizing enveloping layer glycans during zebrafish early embryogenesis
2010 StandoutNobel
Cyclic GMP-AMP Synthase Is a Cytosolic DNA Sensor That Activates the Type I Interferon Pathway
2012 StandoutScience
Probing mucin-type O-linked glycosylation in living animals
2006 StandoutNobel
Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq
2015 StandoutScience
The mucin-selective protease StcE enables molecular and functional analysis of human cancer-associated mucins
2019 StandoutNobel
In vivo gene editing in dystrophic mouse muscle and muscle stem cells
2015 Science
A metabolic labeling approach toward proteomic analysis of mucin-type O-linked glycosylation
2003 StandoutNobel
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Trained immunity: A program of innate immune memory in health and disease
2016 StandoutScience
Accelerated Evolution of Conserved Noncoding Sequences in Humans
2006 StandoutScienceNobel
Nuclear Lamin-A Scales with Tissue Stiffness and Enhances Matrix-Directed Differentiation
2013 StandoutScience
Copper-free click chemistry in living animals
2010 StandoutNobel
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition
2016
Cerebral cortex expansion and folding: what have we learned?
2016
The GPS Motif Is a Molecular Switch for Bimodal Activities of Adhesion Class G Protein-Coupled Receptors
2012
Latrophilins Function as Heterophilic Cell-adhesion Molecules by Binding to Teneurins
2013 StandoutNobel
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
The promise and challenge of therapeutic genome editing
2020 StandoutNatureNobel
Expression profile of the entire family of AdhesionG protein-coupled receptors in mouse and rat
2008
Identification of FLRT1, FLRT2, and FLRT3: A Novel Family of Transmembrane Leucine-Rich Repeat Proteins
1999
Abdominal obesity and metabolic syndrome
2006 StandoutNature
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
2001
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
2002 Nature
Latrophilin Signaling Links Anterior-Posterior Tissue Polarity and Oriented Cell Divisions in the C. elegans Embryo
2009
Chemical Technologies for Probing Glycans
2006 StandoutNobel
Life at the edge: the nuclear envelope and human disease
2002
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
CD22 blockade restores homeostatic microglial phagocytosis in ageing brains
2019 StandoutNatureNobel
The cancer glycocalyx mechanically primes integrin-mediated growth and survival
2014 StandoutNatureNobel
Mitotic Spindle Regulation by Nde1 Controls Cerebral Cortical Size
2004
Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
2007 StandoutNobel
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
1989
Environment Drives Selection and Function of Enhancers Controlling Tissue-Specific Macrophage Identities
2014
Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
2000
Glycosylation in Cellular Mechanisms of Health and Disease
2006 Standout
The muscular dystrophies
2002 Standout
Regulated portals of entry into the cell
2003 StandoutNature
Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria
2010
The N Terminus of the Adhesion G Protein-coupled Receptor GPR56 Controls Receptor Signaling Activity
2011
Genetic defects in the human glycome
2006
New Structural Scaffolds for Centrally Acting Oxime Reactivators of Phosphylated Cholinesterases
2011 StandoutNobel
DNA extraction procedures meaningfully influence qPCR-based mtDNA copy number determination
2009
Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions
2008 StandoutNature
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
2001 Nature
Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy
2008
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
2000
Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human
2009
Autophagy in the Pathogenesis of Disease
2008 Standout
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
2001
Lipodystrophies: rare disorders causing metabolic syndrome
2004
Adhesion-GPCRs: emerging roles for novel receptors
2008
Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse
2002
High Affinity Neurexin Binding to Cell Adhesion G-protein-coupled Receptor CIRL1/Latrophilin-1 Produces an Intercellular Adhesion Complex
2012 StandoutNobel
Extracellular Matrix: Functions in the Nervous System
2010
Novel oximes as blood–brain barrier penetrating cholinesterase reactivators
2010
Caveolae: From Cell Biology to Animal Physiology
2002
A diverse range of gene products are effectors of the type I interferon antiviral response
2011 StandoutNatureNobel
The limb-girdle muscular dystrophies
2001
The role of the nuclear envelope in Emery–Dreifuss muscular dystrophy
2001
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
1995 Nature
G1 Phase Regulation, Area-Specific Cell Cycle Control, and Cytoarchitectonics in the Primate Cortex
2005
Laminopathies and the long strange trip from basic cell biology to therapy
2009
Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
2009
Muscular dystrophies: genes to pathogenesis
2003
Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease
2006
The Ig-like Structure of the C-Terminal Domain of Lamin A/C, Mutated in Muscular Dystrophies, Cardiomyopathy, and Partial Lipodystrophy
2002
A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy
2001
Nuclear lamins: building blocks of nuclear architecture
2002
A Role for Intermediate Radial Glia in the Tangential Expansion of the Mammalian Cerebral Cortex
2010
Protein therapeutics: a summary and pharmacological classification
2007 Standout
Immunocytochemical analysis of human muscular dystrophy
2000
Mutations in the LMNA gene encoding lamin A/C
2000
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis
2003 StandoutNatureNobel
Structure of the Globular Tail of Nuclear Lamin
2002
Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
1997
Emerging roles of neural stem cells in cerebral cortex development and evolution
2012
Genome-wide detection and characterization of positive selection in human populations
2007 StandoutNature
Human disorders of cortical development: from past to present
2006
A Genetic Approach to Mammalian Glycan Function
2003
In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish
2008 StandoutScienceNobel
Altered aquaporin‐4 expression in human muscular dystrophies: a common feature?
2002
The muscular dystrophies
2012
A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis
2012 StandoutNobel
CRISPR Correction of Duchenne Muscular Dystrophy
2018
The future of cloning
1999 StandoutNatureNobel
A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells
2012 Standout
The cell-adhesion G protein-coupled receptor BAI3 is a high-affinity receptor for C1q-like proteins
2011 StandoutNobel
Site-specific chemical modification of recombinant proteins produced in mammalian cells by using the genetically encoded aldehyde tag
2009 StandoutNobel
Neural Science
2000 StandoutNobel
Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals
2022 StandoutScienceNobel
Role of Glycosylation in Development
2004
Targeted Deletion of the Epididymal Receptor HE6 Results in Fluid Dysregulation and Male Infertility
2004
X-CHROMOSOME INACTIVATION IN MAMMALS
1997
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells
2006 StandoutNobel
Posttranslational Modification of α-Dystroglycan, the Cellular Receptor for Arenaviruses, by the Glycosyltransferase LARGE Is Critical for Virus Binding
2005
The Function of Nuclear Architecture: A Genetic Approach
2003
Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins
2013
Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing
2018
Imaging the glycome
2008 StandoutNobel
The DisGeNET knowledge platform for disease genomics: 2019 update
2019 Standout
Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain
1997 StandoutScience
Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal
2012 StandoutNobel
Delayed onset of brain edema and mislocalization of aquaporin-4 in dystrophin-null transgenic mice
2002 StandoutNobel
Friends Not Foes: CTLA-4 Blockade and mTOR Inhibition Cooperate during CD8+ T Cell Priming To Promote Memory Formation and Metabolic Readiness
2015 StandoutNobel
CRISPR-Cas guides the future of genetic engineering
2018 StandoutScienceNobel
Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review
2006
Dissociation of the Subunits of the Calcium-Independent Receptor of α-Latrotoxin as a Result of Two-Step Proteolysis
2009
Chemical Glycoproteomics
2016 StandoutNobel
Works of Thomas Voit being referenced
G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex
2004 Science
Lack of myostatin results in excessive muscle growth but impaired force generation
2007
From adhalinopathies to alpha-sarcoglycanopathies: An overview
1996
Phenotypic spectrum associated with mutations in the fukutin‐related protein gene
2003
Respiratory function assessment and intervention in neuromuscular disorders
2005
Congenital muscular dystrophies: 1997 update
1998
Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan
2001
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders
2015
Dystrophin and nebulin in the muscular dystrophies
1988
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June–1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France
2008
Preserved Merosin M-Chain (or Laminin-α2) Expression in Skeletal Muscle Distinguishes Walker-Warburg Syndrome from Fukuyama Muscular Dystrophy and Merosin-Deficient Congenital Muscular Dystrophy
1995
Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1
2001
The congenital muscular dystrophies in 2004: a century of exciting progress
2004
Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease
2002
Spectrum of Brain Changes in Patients With Congenital Muscular Dystrophy and FKRP Gene Mutations
2006
X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes
1995
Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene
2000
A Gene for Autosomal Dominant Paroxysmal Choreoathetosis/Spasticity (CSE) Maps to the Vicinity of a Potassium Channel Gene Cluster on Chromosome 1p, Probably within 2 cM between D1S443 and D1S197
1996
Defective protein glycosylation in patients with cutis laxa syndrome
2005
Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus: A Rare Brain Malformation Syndrome Associated with Mental Retardation and Seizures
2004
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review
2002
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial
2004
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
2003
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
2000
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
2000
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
2005
Laminin α2 chain-deficient congenital muscular dystrophy
1998
Secondary calpain3 deficiency in 2q-linked muscular dystrophy
2001
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
1997
Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.
1995
Direct visualization of the dystrophin network on skeletal muscle fiber membrane.
1992
Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease
2001