Citation Impact
Citing Papers
Impairment of starvation-induced and constitutive autophagy in Atg7 -deficient mice
2005 StandoutNobel
IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel
2005 Standout
A "Silent" Polymorphism in the MDR 1 Gene Changes Substrate Specificity
2006 StandoutScience
Crippling life support for SARS-CoV-2 and other viruses through synthetic lethality
2020 StandoutNobel
Accelerated Evolution of Conserved Noncoding Sequences in Humans
2006 StandoutScienceNobel
In Vivo Analysis of Autophagy in Response to Nutrient Starvation Using Transgenic Mice Expressing a Fluorescent Autophagosome Marker
2003 StandoutNobel
Brain metabolism is abnormal in the mdx model of Duchenne muscular dystrophy
1996
A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro
2005
Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls
2001
Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies
2003
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
The Blood-Brain Barrier in Health and Chronic Neurodegenerative Disorders
2008 Standout
An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements
2006
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
2000 Nature
Hereditary dilated cardiomyopathy
1995
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening
2000
Autophagic Vacuolar Myopathy
2006
Transcriptional regulation by calcium, calcineurin, and NFAT
2003 Standout
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients
2010
Dilated cardiomyopathy
2010
The muscular dystrophies
2002 Standout
Cardiac autophagy is a maladaptive response to hemodynamic stress
2007 Standout
Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy
2011
2009 Focused Update Incorporated Into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults
2009 Standout
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
2011 Standout
Severe alterations of endothelial and glial cells in the blood‐brain barrier of dystrophic mdx mice
2003
Inherited Cardiomyopathies
1994
An Insulin-like Signaling Pathway Affects Both Longevity and Reproduction in Caenorhabditis elegans
1998 StandoutNobel
Autophagy: Renovation of Cells and Tissues
2011 Standout
Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy
1999
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Clinical and genetic issues in familial dilated cardiomyopathy
2005
The Dystrophinopathies: An Alternative to the Structural Hypothesis
1998
Autophagy in the Pathogenesis of Disease
2008 Standout
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Myocardial Substrate Metabolism in the Normal and Failing Heart
2005 Standout
Autophagy in Human Health and Disease
2013 Standout
Enteroviral Protease 2A Directly Cleaves Dystrophin and Is Inhibited by a Dystrophin-based Substrate Analogue
2000
Why does the myocardium fail? Insights from basic science
1998
Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide
2005
Loss of autophagy in the central nervous system causes neurodegeneration in mice
2006 StandoutNature
Aquaporin water channels – from atomic structure to clinical medicine
2002 StandoutNobel
Seven-transmembrane-spanning receptors and heart function
2002 StandoutNatureNobel
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
The role of cytoskeletal proteins in cardiomyopathies
1998
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
2007
Regulation of cardiac hypertrophy by intracellular signalling pathways
2006 Standout
Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice
2003 StandoutNobel
Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease
1999
A Putative Src Homology 3 Domain Binding Motif but Not the C-terminal Dystrophin WW Domain Binding Motif Is Required for Dystroglycan Function in Cellular Polarity in Drosophila
2007 StandoutNobel
Immunocytochemical analysis of human muscular dystrophy
2000
Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy
2005
The failing heart
2002 Nature
Myocarditis
2009 Standout
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
2000 Nature
Comparative Analysis of Antisense Oligonucleotide Sequences for Targeted Skipping of Exon 51 During Dystrophin Pre-mRNA Splicing in Human Muscle
2007
Glutamate uptake is decreased in platelets from Alzheimer's disease patients
2000
Aquaporin‐4 deficiency in skeletal muscle and brain of dystrophic mdx mice
2001
Evidence for a Dystrophin Missense Mutation as a Cause of X-Linked Dilated Cardiomyopathy
1997
ACC/AHA 2005 Guideline Update for the Diagnosis and Management of Chronic Heart Failure in the Adult
2005 Standout
At the Crossroads of Myocardial Signaling
2004
An α-syntrophin-dependent pool of AQP4 in astroglial end-feet confers bidirectional water flow between blood and brain
2003 StandoutNobel
Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion
2000
The muscular dystrophies
2012
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies
2003
The Dystrophin Glycoprotein Complex
2004
Fiber Types in Mammalian Skeletal Muscles
2011 Standout
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
2000 Standout
Contemporary Definitions and Classification of the Cardiomyopathies
2006 Standout
Intracellular Functions of N-Linked Glycans
2001 StandoutScience
Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle
2002
Clinical Approach to Genetic Cardiomyopathy in Children
1996
Augmentation of Cardiac Contractility Mediated by the Human β 3 -Adrenergic Receptor Overexpressed in the Hearts of Transgenic Mice
2001 StandoutNobel
Cardiomyopathy in transgenic mice with cardiac-specific overexpression of serum response factor
2001
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Cellular and Molecular Regulation of Muscle Regeneration
2004 Standout
Delayed onset of brain edema and mislocalization of aquaporin-4 in dystrophin-null transgenic mice
2002 StandoutNobel
Dissection of Autophagosome Formation Using Apg5-Deficient Mouse Embryonic Stem Cells
2001 StandoutNobel
Autophagy as a Regulated Pathway of Cellular Degradation
2000 StandoutScience
Autoimmune Dilated Cardiomyopathy in PD-1 Receptor-Deficient Mice
2001 StandoutScienceNobel
Preservation of myocardial β-adrenergic receptor signaling delays the development of heart failure after myocardial infarction
2000 StandoutNobel
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles
2004 StandoutNobel
Organoselenium and Organotellurium Compounds: Toxicology and Pharmacology
2004 Standout
Regulation of Mammalian Autophagy in Physiology and Pathophysiology
2010 Standout
Aquaporin-4 square array assembly: Opposing actions of M1 and M23 isoforms
2003 StandoutNobel
Calsarcins, a novel family of sarcomeric calcineurin-binding proteins
2000
Creatine and Creatinine Metabolism
2000 Standout
Autophagy in Health and Disease: A Double-Edged Sword
2004 StandoutScience
Works of Anna Mateddu being referenced
Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
1993
X-linked dilated cardiomyopathy and the dystrophin gene
1999
Muscular weakness in the mdx mouse
1993
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families
1998
Passive avoidance behaviour deficit in the mdx mouse
1991
A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy
1996
Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy
1998
Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier
1992
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments
1994
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
1997
Two novel mutations (10410 T→G; 10296 del C) at carboxy‐terminus of the dystrophin gene associated with mental retardation
1998