Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1987 • 2,353 citations

Prevalence of Muscular Dystrophies: A Systematic Literature Review

2014 • 1,944 citations

PRACTICAL STEREOLOGICAL METHODS FOR MORPHOMETRIC CYTOLOGY

1966 • 1,821 citations

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1988 • 1,501 citations

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1988 • 1,260 citations

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1988 • 1,140 citations

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

1989 • 940 citations

Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy

1988 • 910 citations

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

1990 • 578 citations

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

1989 • 498 citations

Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs

1991 • 486 citations

An autosomal transcript in skeletal muscle with homology to dystrophin

1989 • 478 citations

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility.

1990 • 384 citations

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

1991 • 374 citations

Clinical investigation in duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history

1983 • 354 citations

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1989 • 332 citations

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1989 • 330 citations

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

1989 • 289 citations

Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy

1988 • 276 citations

Somatic reversion/suppression of the mouse mdx phenotype in vivo

1990 • 273 citations

A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.

1992 • 234 citations

Duchenne muscular dystrophy gene product is not identical in muscle and brain

1989 • 230 citations

Identification of a chromosome 6-encoded dystrophin-related protein.

1990 • 205 citations

Dystrophin is transcribed in brain from a distant upstream promoter.

1991 • 191 citations

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1989 • 189 citations

Point mutations in the dystrophin gene.

1992 • 189 citations

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

1993 • 185 citations

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.

1989 • 184 citations

Prevalence and incidence of Becker muscular dystrophy

1991 • 184 citations

Dystrophin in skeletal muscle I. Western blot analysis using a monoclonal antibody

1989 • 167 citations

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

1991 • 165 citations

Dystrophin gene transcribed from different promoters in neuronal and glial cells

1990 • 161 citations

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

1990 • 160 citations

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

1990 • 150 citations

Intellect and Behaviour in Duchenne Muscular Dystrophy

1981 • 138 citations

Different distributions of dystrophin and related proteins at nerve-muscle junctions

1992 • 131 citations

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

1993 • 123 citations

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells

1992 • 119 citations

Disorders of Voluntary Muscle

1989 • 97 citations

Duchenne muscular dystrophy in one of monozygotic twin girls.

1986 • 97 citations

Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.

1991 • 86 citations

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.

1989 • 82 citations

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophy in cDNA

1988 • 76 citations

Retroviral‐mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro

1992 • 73 citations

Dystrophin in frameshift deletion patients with Becker muscular dystrophy.

1992 • 73 citations

Sequences of junction fragments in the deletion-prone region of the dystrophin gene

1991 • 72 citations

Diagnosis of Duchenne and Becker Muscular Dystrophies by Polymerase Chain Reaction

1992 • 71 citations

The standardization of the Wechsler Intelligence Scale for Children.

1950 • 71 citations

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

1991 • 70 citations

Differences between Verbal and Performance IQs on the Wechsler Intelligence Scale For Children.

1951 • 69 citations

Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice

1992 • 69 citations

Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy

1993 • 68 citations

Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells

1990 • 65 citations

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

1992 • 60 citations

High resoluation deletion breakpoint mapping in the DMD gene by whole cosmid hybridization

1989 • 60 citations

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.

1993 • 54 citations

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability

1992 • 52 citations

Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy.

1991 • 47 citations

Dystrophin or a “related protein” in Duchenne muscular dystrophy?

1992 • 44 citations

Human dystrophin gene transfer: production and expression of a functional recombinant DNA-based gene

1991 • 44 citations

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

1990 • 44 citations

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

1992 • 42 citations

A transposon-like element in the deletion-prone region of the dystrophin gene

1992 • 40 citations

Dystrophin as a Diagnostic Marker in Duchenne and Becker Muscular Dystrophy. Correlation of Immunofluorescence and Western Blot

1991 • 39 citations

Analysis of Verbal Disability in Duchenne Muscular Dystrophy

1980 • 37 citations

Becker muscular dystrophy: correlation of deletion type with clinical severity.

1990 • 32 citations

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.

1992 • 31 citations

Mapping of dystrophin brain promoter: A deletion of this region is compatible with normal intellect

1991 • 31 citations

HEAD CIRCUMFERENCE AND INTELLECTUAL PERFORMANCE OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY

1991 • 26 citations

THE DIAGNOSIS OF MUSCULAR DYSTROPHY IN PATIENTS REFERRED FOR LANGUAGE DELAY

1986 • 24 citations

Genetic abnormalities in Duchenne and Becker dystrophies

1989 • 23 citations

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

1991 • 23 citations

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

1989 • 23 citations

Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5′ end of the gene

1987 • 19 citations

Functional evaluation of Duchenne muscular dystrophy: Proposal for a protocol

1982 • 15 citations

Dystrophin Expression in Duchenne Patients with "In-Frame" Gene Deletions

1993 • 14 citations

Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes.

1990 • 13 citations

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

1993 • 11 citations

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy

1992 • 11 citations

Dystrophin analysis in the diagnosis of muscular dystrophy.

1989 • 9 citations

Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions

1992 • 9 citations

Is dystrophin labelling always discontinuous in Becker muscular dystrophy?

1991 • 9 citations

Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results

1991 • 8 citations

Dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy

1990 • 3 citations

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