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

Dystrophin: The protein product of the duchenne muscular dystrophy locus

1987 • 4,477 citations

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

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

1988 • 910 citations

Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface

1988 • 617 citations

Use of Restriction Fragment Length Polymorphisms to Determine the Clonal Origin of Human Tumors

1985 • 387 citations

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

1983 • 354 citations

Germline mosaicism and Duchenne muscular dystrophy mutations

1987 • 199 citations

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1987 • 192 citations

Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia

1983 • 179 citations

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1988 • 178 citations

Active X chromosome DNA is unmethylated at eight CCGG sites clustered in a guanine-plus-cytosine-rich island at the 5' end of the gene for phosphoglycerate kinase.

1986 • 164 citations

Carrier Detection in X-Linked Agammaglobulinemia by Analysis of X-Chromosome Inactivation

1987 • 159 citations

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

1988 • 154 citations

CLINICAL FEATURES AND CLASSIFICATION OF THE MUSCULAR DYSTROPHIES

1980 • 133 citations

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1987 • 133 citations

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1987 • 123 citations

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele

1984 • 119 citations

Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.

1982 • 117 citations

Failure of inactivation of Duchenne dystrophy X‐chromosome in one of female identical twins

1977 • 96 citations

Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients.

1988 • 90 citations

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

1988 • 76 citations

Prenatal Diagnosis and Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy

1987 • 75 citations

Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome

1965 • 71 citations

LIMB-GIRDLE MUSCULAR DYSTROPHY: CLINICAL MANIFESTATIONS AND DETECTION OF PRECLINICAL DISEASE

1968 • 67 citations

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: Isolation and use of J66 (DXS268), a distal intragenic marker

1987 • 65 citations

Progressive muscular dystrophy: autosomal recessive type.

1961 • 62 citations

Autosomal recessive muscular dystrophy in Manitoba Hutterites*

1976 • 58 citations

Germinal mosaicism in Duchenne muscular dystrophy

1988 • 56 citations

Active X Chromosome DNA is Unmethylated at Eight CCGG Sites Clustered in a Guanine-Plus-Cytosine-Rich Island at the 5′ End of the Gene for Phosphoglycerate Kinase

1986 • 55 citations

Severe Autosomal Recessive Muscular Dystrophy in an Extended Sudanese Kindred

1983 • 44 citations

Molecular heterogeneity of translocations associated with muscular dystrophy

1987 • 43 citations

Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients.

1987 • 42 citations

Muscular dystrophy in young girls

1970 • 39 citations

Familial inheritance of a DXS164 deletion mutation from a heterozygous female.

1987 • 30 citations

Severe muscular dystrophy in girls

1984 • 26 citations

Duchenne‐like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance

1985 • 20 citations

Progressive Muscle Disease in a Young Woman With Family History of Duchenne's Muscular Dystrophy

1982 • 16 citations

Manifesting carrier of X-linked Duchenne muscular dystrophy

1981 • 15 citations

Genetic heterogeneity in Duchenne Dystrophy

1987 • 11 citations

FOUR CASES OF DUCHENNE–TYPE MUSCULAR DYSTROPHY IN GIRLS

1972 • 11 citations

A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg‐Welander syndrome

1988 • 9 citations

Duchenne Muscular Dystrophy in a 46 XY Female

1986 • 6 citations