Published in Brain on November 18, 2011
Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery. Proc Natl Acad Sci U S A (2012) 1.32
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients. Mol Ther (2014) 1.17
How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse. Hum Mol Genet (2015) 1.07
Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy. Sci Transl Med (2012) 1.06
Splicing therapy for neuromuscular disease. Mol Cell Neurosci (2013) 0.95
Accurate Quantitation of Dystrophin Protein in Human Skeletal Muscle Using Mass Spectrometry. J Bioanal Biomed (2012) 0.94
Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. Mol Ther (2012) 0.93
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene. Acta Myol (2015) 0.91
Development of multiexon skipping antisense oligonucleotide therapy for Duchenne muscular dystrophy. Biomed Res Int (2013) 0.88
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. J Hum Genet (2014) 0.88
Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis. BMC Med (2013) 0.86
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. Orphanet J Rare Dis (2012) 0.82
Cellular Transplantation Alters the Disease Progression in Becker's Muscular Dystrophy. Case Rep Transplant (2013) 0.82
Improving clinical trial design for Duchenne muscular dystrophy. BMC Neurol (2015) 0.81
Disease-proportional proteasomal degradation of missense dystrophins. Proc Natl Acad Sci U S A (2015) 0.78
Correspondence: Measuring dystrophin-faster is not necessarily better. Nat Rev Neurol (2012) 0.78
The Dystrophin Complex: Structure, Function, and Implications for Therapy. Compr Physiol (2015) 0.77
Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. J Hum Genet (2016) 0.77
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype. Nat Commun (2016) 0.76
Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies. Bosn J Basic Med Sci (2015) 0.76
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. PLoS One (2016) 0.75
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. Sci Rep (2016) 0.75
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol (2003) 3.46
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology (2010) 3.37
Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle. Proc Natl Acad Sci U S A (1998) 3.00
Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J Clin Invest (2009) 2.89
Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature (2008) 2.87
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat (2009) 2.67
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc Natl Acad Sci U S A (2000) 2.49
Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J Cell Biol (2000) 2.24
107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord (2003) 2.12
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03
Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. Biochim Biophys Acta (2006) 1.94
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat (2007) 1.89
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet (1992) 1.81
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circ Cardiovasc Genet (2009) 1.80
Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia. Pediatr Neurol (2006) 1.78
Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders. Neurology (2011) 1.62
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation (1996) 1.54
miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. EMBO Rep (2011) 1.50
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. J Neurol Neurosurg Psychiatry (1993) 1.49
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J Neurol (1993) 1.37
Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol (2009) 1.36
Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol (1993) 1.36
RNA-targeted splice-correction therapy for neuromuscular disease. Brain (2010) 1.36
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord (2010) 1.34
Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene. J Clin Neurosci (2008) 1.30
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart (1997) 1.30
DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis. EMBO J (2009) 1.30
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord (2010) 1.24
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. Neuromuscul Disord (2010) 1.19
Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions. Neuropathol Appl Neurobiol (2004) 1.16
Molecular extensibility of mini-dystrophins and a dystrophin rod construct. J Mol Biol (2005) 1.13
Dystrophin: more than just the sum of its parts. Biochim Biophys Acta (2010) 1.12
A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground. Arch Neurol (2009) 1.11
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain (1994) 1.10
Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. J Neurol Sci (1995) 1.08
Exon-skipped dystrophins for treatment of Duchenne muscular dystrophy: mass spectrometry mapping of most exons and cooperative domain designs based on single molecule mechanics. Cytoskeleton (Hoboken) (2010) 1.08
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur J Paediatr Neurol (1998) 1.06
Internal deletion compromises the stability of dystrophin. Hum Mol Genet (2011) 1.00
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion. Muscle Nerve (2009) 1.00
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy. Neuromuscul Disord (1994) 0.98
Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy. BMC Med Genet (2008) 0.95
[Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene]. Arch Pediatr (2007) 0.92
Association of neuronal nitric oxide synthase (nNOS) with alpha1-syntrophin at the sarcolemma. Microsc Res Tech (2001) 0.91
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. J Med Genet (1993) 0.91
Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. J Hum Genet (2009) 0.84
Asymptomatic dystrophinopathy. Am J Med Genet (1997) 0.82
Our trails and trials in the subsarcolemmal cytoskeleton network and muscular dystrophy researches in the dystrophin era. Proc Jpn Acad Ser B Phys Biol Sci (2010) 0.79
[Late onset Becker muscular dystrophy. A case report and literature review]. Rev Med Interne (2010) 0.78
Spanish family with myalgia and cramps syndrome. J Neurol Neurosurg Psychiatry (2005) 0.77
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
Stem cell function, self-renewal, and behavioral heterogeneity of cells from the adult muscle satellite cell niche. Cell (2005) 7.15
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol (2003) 3.46
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Dystroglycanopathies: coming into focus. Curr Opin Genet Dev (2011) 2.75
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet (2003) 2.69
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A (2003) 2.65
A mutation in the thyroid hormone receptor alpha gene. N Engl J Med (2011) 2.62
Eculizumab prevents anti-ganglioside antibody-mediated neuropathy in a murine model. Brain (2008) 2.60
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol (2003) 2.47
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Lack of myostatin results in excessive muscle growth but impaired force generation. Proc Natl Acad Sci U S A (2007) 2.25
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A (2005) 2.16
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther (2011) 2.06
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry (2012) 2.05
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03
A population of myogenic stem cells that survives skeletal muscle aging. Stem Cells (2007) 2.03
Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy. Eur J Nucl Med Mol Imaging (2010) 1.98
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation (2009) 1.93
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J (2007) 1.92
Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging (2007) 1.91
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet (2012) 1.88
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve (2012) 1.88
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80
Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord (2007) 1.80
Muscular dystrophies. Lancet (2013) 1.79
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Common Data Elements for Muscle Biopsy Reporting. Arch Pathol Lab Med (2015) 1.78
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J (2012) 1.77
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A (2007) 1.74
Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy. J Am Coll Cardiol (2003) 1.72
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. J Cell Sci (2008) 1.68
A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med (2011) 1.67
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. Cardiovasc Res (2009) 1.67
In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med (2009) 1.66
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol (2003) 1.64
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet (2010) 1.62
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet (2005) 1.61
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A (2008) 1.59
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science (2013) 1.57
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52
Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues. Brain (2004) 1.52
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52