Citation Impact
Citing Papers
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs
2022 StandoutNobel
Accelerated Evolution of Conserved Noncoding Sequences in Humans
2006 StandoutScienceNobel
Nuclear Lamin-A Scales with Tissue Stiffness and Enhances Matrix-Directed Differentiation
2013 StandoutScience
Health status of Gypsies and Travellers in England
2007 Standout
Origins and Divergence of the Roma (Gypsies)
2001 Standout
To what extent does socioeconomic status explain differences in health between Roma and non-Roma adolescents in Slovakia?
2009 Standout
Roma health issues: a review of the literature and discussion
2003
Structure of a mammalian ryanodine receptor
2014 StandoutNatureNobel
Structural Basis for Gating and Activation of RyR1
2016 StandoutNobel
Opsoclonus myoclonus syndrome in neuroblastoma a report from a workshop on the dancing eyes syndrome at the advances in neuroblastoma meeting in Genoa, Italy, 2004
2005
Population frequencies of inherited neuromuscular diseases—A world survey
1991 Standout
Skeletal Muscle Fatigue: Cellular Mechanisms
2008 Standout
Ca2+ channels and skeletal muscle diseases
2010
Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase
1995 Standout
The multiple faces of caveolae
2007
Mutation of a serine near the catalytic site of the choline acetyltransferase a gene almost completely abolishes motility of the zebrafish embryo
2018
Ryanodine Receptors: Allosteric Ion Channel Giants
2014
Phosphofructokinase Muscle-Specific Isoform Requires Caveolin-3 Expression for Plasma Membrane Recruitment and Caveolar Targeting
2003
Exercise-Induced Oxidative Stress: Cellular Mechanisms and Impact on Muscle Force Production
2008 Standout
Calcium's Role in Mechanotransduction during Muscle Development
2014 Standout
A painful peripheral neuropathy in the rat produced by the chemotherapeutic drug, paclitaxel
2001 Standout
Oral creatine supplementation facilitates the rehabilitation of disuse atrophy and alters the expression of muscle myogenic factors in humans
2001
Mitochondrial creatine kinase in human health and disease
2005
Longitudinal and transversal propagation of excitation along the tubular system of rat fast‐twitch muscle fibres studied by high speed confocal microscopy
2011
Cardiopulmonary Support in Duchenne Muscular Dystrophy
2006
Rhabdomyolysis and Acute Kidney Injury
2009 Standout
Calcium channels in neurological disease
1997
Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3
2006
The muscular dystrophies
2002 Standout
De novo design of luciferases using deep learning
2023 StandoutNatureNobel
The genetic basis of long QT and short QT syndromes: A mutation update
2009
Regulated portals of entry into the cell
2003 StandoutNature
Postulated Role of Interdomain Interaction within the Ryanodine Receptor in Ca2+ Channel Regulation
2000
Frequency of the C34T mutation of theAMPD1gene in world-class endurance athletes: does this mutation impair performance?
2005
Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies
1991
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
2006 StandoutNobel
Caveolin Interacts with the Angiotensin II Type 1 Receptor during Exocytic Transport but Not at the Plasma Membrane
2003
Endurance exercise performance: the physiology of champions
2007 Standout
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Superresolution microscopy in heart — Cardiac nanoscopy
2012 StandoutNobel
Cerebral ventricular shunts
1999
Sox9 is required for cartilage formation
1999 Standout
Caveolin Regulates Endocytosis of the Muscle Repair Protein, Dysferlin
2007
Evidence-Based Recommendations for Optimal Dietary Protein Intake in Older People: A Position Paper From the PROT-AGE Study Group
2013 Standout
Rippling muscle disease may be caused by “silent” action potentials in the tubular system of skeletal muscle fibers
2005
Regulation of Renal Organic Anion Transporter 3 (SLC22A8) Expression and Function by the Integrity of Lipid Raft Domains and their Associated Cytoskeleton
2013 Standout
Muscular dystrophy into the new millennium
2002
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
2009
The Pore Structure of the Closed RyR1 Channel
2005
Mitochondrial Membrane Permeabilization in Cell Death
2007 Standout
Effects of creatine supplementation and exercise training on fitness in men 55–75 yr old
2003
Caveolae: From Cell Biology to Animal Physiology
2002
Courtship and Other Behaviors Affected by a Heat-Sensitive, Molecularly Novel Mutation in the cacophony Calcium-Channel Gene of Drosophila
2002 StandoutNobel
Neuroblastoma
2007 Standout
Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening
2010
Neurological diseases caused by ion-channel mutations
2000
Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities
2008
Microbubble Stability is a Major Determinant of the Efficiency of Ultrasound and Microbubble Mediated in vivo Gene Transfer
2009 StandoutNobel
Caveolae as plasma membrane sensors, protectors and organizers
2013
Role of Caveolae and Caveolins in Health and Disease
2004
Rhabdomyolysis: A review
2002
Muscular dystrophies: genes to pathogenesis
2003
Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy
1993
COPII and the regulation of protein sorting in mammals
2011 StandoutNobel
Endocytosis of nanomedicines
2010 Standout
The role of surface charge in cellular uptake and cytotoxicity of medical nanoparticles
2012 Standout
Treatment of Infections Associated with Surgical Implants
2004 Standout
The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres
1995
Neuropathy Associated with Mitochondrial Disorders
1993
Myasthenia gravis: subgroup classification and therapeutic strategies
2015 Standout
Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy
1992
Evolutionary analysis and molecular dissection of caveola biogenesis
2008
Oxidation of the skeletal muscle Ca2+release channel alters calmodulin binding
1999
Supramolecular Hydrogelators and Hydrogels: From Soft Matter to Molecular Biomaterials
2015 Standout
Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal
2009
Routes and mechanisms of extracellular vesicle uptake
2014 Standout
Correlation between the lowest triplet state energy level of the ligand and lanthanide(III) luminescence quantum yield
1997 Standout
Gentamicin-Konzentrationen im Liquorraum bei Patienten mit entzündeten und nicht entzündeten Meningen
1980
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture
2011 StandoutNobel
Fiber Types in Mammalian Skeletal Muscles
2011 Standout
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1987 Standout
Applications of bioluminescence in biotechnology and beyond
2021
Penetration of Drugs through the Blood-Cerebrospinal Fluid/Blood-Brain Barrier for Treatment of Central Nervous System Infections
2010 Standout
Simultaneous Quadruple-Label Fluorometric Immunoassay of Thyroid-Stimulating Hormone, 17 α-Hydroxyprogesterone, Immunoreactive Trypsin, and Creatine Kinase MM Isoenzyme in Dried Blood Spots
1992
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome
1984
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Cellular uptake of nanoparticles: journey inside the cell
2017 Standout
Immune-mediated rippling muscle disease
2005
Trafficking of G Protein–Coupled Receptors
2006 StandoutNobel
Part 14: Pediatric Advanced Life Support
2010 Standout
Mechanisms of Endocytosis
2009 Standout
Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells
2010 StandoutNobel
Organization of β-adrenoceptor signaling compartments by sympathetic innervation of cardiac myocytes
2007 StandoutNobel
Nanotoxicology: An Emerging Discipline Evolving from Studies of Ultrafine Particles
2005 Standout
Works of W. Mortier being referenced
A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin
1999
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
2003
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
1993
Narkosezwischenfälle
2000
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
2001
Mitochondrial Myopathies with Necrotizing Encephalopathy of the Leigh Type
1988
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population
2002
Creatine Therapy in Myophosphorylase Deficiency (McArdle Disease)
2000
Consequences of a novel caveolin‐3 mutation in a large German family
2003
Creatine Therapy in Myophosphorylase Deficiency (McArdle Disease)
2000
[Cerebellar motor disorder and neuroblastoma].
1975
The Slit-Ventricle Syndrome After Shunting in Hydrocephalic Children
1982
[Chemotherapy of purulent meningitis].
1970
Screening for duchenne muscular dystrophy: An improved screening test for creatine kinase and its application in an infant screening program
1986
Phenotypic variability in rippling muscle disease
1999
Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study.
2002
Neuer Typ einer recessiv X-chromosomal vererbten Muskeldystrophie: Scapulo-humero-distale Muskeldystrophie mit fr�hzeitigen Kontrakturen und Herzrhythmusst�rungen
1972
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation
2001
Association of hypertelorism and hypospadias--the BBB-syndrome.
1972