Published in Nature on November 25, 1986
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
The DNA sequence of the human X chromosome. Nature (2005) 6.97
The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line. J Cell Biol (1988) 3.86
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet (1989) 3.81
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet (1988) 3.58
Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc Natl Acad Sci U S A (1991) 3.43
cDNA selection: efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments. Proc Natl Acad Sci U S A (1991) 3.31
Genetic linkage map of human chromosome 7 with 63 DNA markers. Proc Natl Acad Sci U S A (1987) 2.91
Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein. Proc Natl Acad Sci U S A (2001) 2.88
Development of large DNA methods for plants: molecular cloning of large segments of Arabidopsis and carrot DNA into yeast. Nucleic Acids Res (1988) 2.84
Human major histocompatibility complex contains genes for the major heat shock protein HSP70. Proc Natl Acad Sci U S A (1989) 2.34
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am J Hum Genet (1991) 2.17
Involvement of TRPC in the abnormal calcium influx observed in dystrophic (mdx) mouse skeletal muscle fibers. J Cell Biol (2002) 2.14
Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus. Am J Hum Genet (1988) 2.11
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet (1989) 2.11
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther (2011) 2.06
Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin. J Cell Biol (1998) 1.98
Identification of multiple HTF-island associated genes in the human major histocompatibility complex class III region. EMBO J (1989) 1.97
Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice. J Cell Biol (2001) 1.86
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A (1987) 1.83
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
Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene. Am J Hum Genet (1988) 1.80
A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region. Nucleic Acids Res (1987) 1.72
An efficient strategy to isolate full-length cDNAs based on an mRNA cap retention procedure (CAPture). Mol Cell Biol (1995) 1.70
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet (1994) 1.70
Myogenic stem cell function is impaired in mice lacking the forkhead/winged helix protein MNF. Proc Natl Acad Sci U S A (2000) 1.68
Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol (1990) 1.64
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Res (1990) 1.63
Chlorambucil effectively induces deletion mutations in mouse germ cells. Proc Natl Acad Sci U S A (1989) 1.54
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet (1989) 1.54
Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J (1991) 1.53
Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet (1988) 1.50
The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve (2013) 1.48
Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A (2011) 1.48
2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet (2005) 1.45
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol (2013) 1.45
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve (2010) 1.45
Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients. EMBO J (1987) 1.40
Heregulin ameliorates the dystrophic phenotype in mdx mice. Proc Natl Acad Sci U S A (2004) 1.38
Transgenic expression of {alpha}7{beta}1 integrin maintains muscle integrity, increases regenerative capacity, promotes hypertrophy, and reduces cardiomyopathy in dystrophic mice. Am J Pathol (2005) 1.37
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet (1993) 1.37
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. Proc Natl Acad Sci U S A (2009) 1.37
Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. PLoS One (2013) 1.34
A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J (1990) 1.34
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet (1996) 1.33
Therapeutic approaches to muscular dystrophy. Hum Mol Genet (2011) 1.30
Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am J Hum Genet (1991) 1.30
Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy. Dis Model Mech (2015) 1.30
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet (1989) 1.30
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet (1988) 1.28
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet (1995) 1.23
Muscle degeneration without mechanical injury in sarcoglycan deficiency. Proc Natl Acad Sci U S A (1999) 1.23
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Hum Mol Genet (2008) 1.23
High efficiency of muscle regeneration after human myoblast clone transplantation in SCID mice. J Clin Invest (1994) 1.22
Emerging genetic therapies to treat Duchenne muscular dystrophy. Curr Opin Neurol (2009) 1.20
Physiological characterization of muscle strength with variable levels of dystrophin restoration in mdx mice following local antisense therapy. Mol Ther (2010) 1.20
Establishment of a highly sensitive and specific exon-trapping system. Proc Natl Acad Sci U S A (1992) 1.17
Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet (1988) 1.16
Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients. Am J Pathol (1988) 1.14
MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation. Cell Death Differ (2013) 1.14
The basic helix-loop-helix-zipper domain of TFE3 mediates enhancer-promoter interaction. Mol Cell Biol (1994) 1.12
Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy. Hum Mol Genet (2012) 1.11
Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene. Am J Hum Genet (1989) 1.11
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc Natl Acad Sci U S A (1987) 1.11
Human major histocompatibility complex contains a new cluster of genes between the HLA-D and complement C4 loci. Nucleic Acids Res (1990) 1.10
Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics (2007) 1.10
Exon skipping and duchenne muscular dystrophy therapy: selection of the most active U1 snRNA antisense able to induce dystrophin exon 51 skipping. Mol Ther (2010) 1.09
Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy. J Med Genet (1990) 1.09
Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest (1990) 1.08
Meiotic recombination between yeast artificial chromosomes yields a single clone containing the entire BCL2 protooncogene. Proc Natl Acad Sci U S A (1990) 1.08
Toward fully automated genotyping: allele assignment, pedigree construction, phase determination, and recombination detection in Duchenne muscular dystrophy. Am J Hum Genet (1994) 1.07
Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes. J Med Genet (1989) 1.07
A sex chromosomal restriction-fragment-length marker linked to melanoma-determining Tu loci in Xiphophorus. Genetics (1988) 1.05
Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase. Proc Natl Acad Sci U S A (1996) 1.05
Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1. Am J Hum Genet (1992) 1.04
Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am J Hum Genet (1994) 1.04
Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. J Med Genet (1988) 1.02
Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy. PLoS Comput Biol (2012) 1.02
Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. Proc Natl Acad Sci U S A (1988) 1.00
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. J Hum Genet (2006) 0.98
The t(10;14)(q24;q11) of T-cell acute lymphoblastic leukemia juxtaposes the delta T-cell receptor with TCL3, a conserved and activated locus at 10q24. Proc Natl Acad Sci U S A (1990) 0.98
The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene. Mol Cell Biol (1991) 0.97
Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol (1998) 0.97
Reprogramming efficiency and quality of induced Pluripotent Stem Cells (iPSCs) generated from muscle-derived fibroblasts of mdx mice at different ages. PLoS Curr (2011) 0.96
Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene. Nucleic Acids Res (1987) 0.96
A tale of two hormones. Nat Med (2010) 0.96
Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites. J Cell Sci (2010) 0.96
mdx(⁵cv) mice manifest more severe muscle dysfunction and diaphragm force deficits than do mdx Mice. Am J Pathol (2011) 0.96
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet (1996) 0.96
A transcription map of the 6p22.3 reading disability locus identifying candidate genes. BMC Genomics (2003) 0.96
High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet (1993) 0.96
Genetics of neurodegenerative diseases: insights from high-throughput resequencing. Hum Mol Genet (2010) 0.96
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. Am J Hum Genet (1994) 0.96
Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am J Hum Genet (1992) 0.95
Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8. Am J Hum Genet (1989) 0.95
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet (1994) 0.95
Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis. J Cell Sci (2013) 0.94
Bex1 knock out mice show altered skeletal muscle regeneration. Biochem Biophys Res Commun (2007) 0.92
Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Am J Hum Genet (1989) 0.92
A familial X;autosome translocation associated with Becker type muscular dystrophy? J Med Genet (1991) 0.92
Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell (1987) 20.27
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell (1987) 16.01
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell (1988) 10.75
A forkhead-domain gene is mutated in a severe speech and language disorder. Nature (2001) 9.25
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29
Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature (1999) 7.73
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature (1986) 6.34
Studies on heterologous anti-lymphocyte serum in mice. I. In vitro and in vivo properties. J Immunol (1966) 5.59
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50
Complementary signaling pathways regulate the unfolded protein response and are required for C. elegans development. Cell (2001) 5.39
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet (1990) 5.16
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature (1990) 5.13
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res (1982) 4.67
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
Studies on heterologous anti-lymphocyte serum in mice. II. Effect on the immune response. J Immunol (1966) 4.49
Expression of the transcription factor deltaFosB in the brain controls sensitivity to cocaine. Nature (1999) 4.29
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature (1989) 4.08
Regulation of cocaine reward by CREB. Science (1998) 4.07
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science (1995) 3.66
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet (1993) 3.63
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57
An improved method for isolation of mouse pancreatic islets. Transplantation (1985) 3.52
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry (2007) 3.49
Neurotoxicity of a fragment of the amyloid precursor associated with Alzheimer's disease. Science (1989) 3.47
Immunoelectron microscopic localization of dystrophin in myofibres. Nature (1988) 3.37
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25
EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. Cell (2001) 3.20
Altered responsiveness to cocaine and increased immobility in the forced swim test associated with elevated cAMP response element-binding protein expression in nucleus accumbens. J Neurosci (2001) 3.09
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet (2000) 2.96
The UTX gene escapes X inactivation in mice and humans. Hum Mol Genet (1998) 2.91
Distinctive molecular profiles of high-grade and low-grade gliomas based on oligonucleotide microarray analysis. Cancer Res (2001) 2.90
Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc Natl Acad Sci U S A (1991) 2.89
Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet (1989) 2.83
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2. Brain Res (1986) 2.77
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature (1988) 2.75
Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem (1990) 2.69
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet (1987) 2.64
Developmentally regulated expression of specific tau sequences. Neuron (1989) 2.62
The structural and functional diversity of dystrophin. Nat Genet (1993) 2.43
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature (1989) 2.43
A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4. Proc Natl Acad Sci U S A (2001) 2.42
Adult Thymectomy: Effect on Recovery from Immunologic Depression in Mice. Science (1965) 2.41
A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am J Hum Genet (1999) 2.38
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
Localisation of a gene implicated in a severe speech and language disorder. Nat Genet (1998) 2.33
Long-term memory is facilitated by cAMP response element-binding protein overexpression in the amygdala. J Neurosci (2001) 2.30
The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med (1997) 2.24
Influence of rejection therapy on fungal and nocardial infections in renal-transplant recipients. Lancet (1973) 2.22
Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries. Proc Natl Acad Sci U S A (1991) 2.21
Molecular profiles of inflammatory myopathies. Neurology (2002) 2.21
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am J Hum Genet (1991) 2.17
The microtubule binding domain of tau protein. Neuron (1989) 2.17
Reproducible high yield of rat islets by stationary in vitro digestion following pancreatic ductal or portal venous collagenase injection. Transplantation (1987) 2.14
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron (1989) 2.13
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature (1991) 2.11
MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex. Proc Natl Acad Sci U S A (1993) 2.07
Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A (1991) 2.04
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
The primary structure and analysis of the squid kinesin heavy chain. J Biol Chem (1990) 2.02
Human Y-chromosome-specific reiterated DNA. Science (1976) 2.02
Pulmonary nocardiosis. Therapy with minocycline and with erythromycin plus ampicillin. JAMA (1973) 1.94
Complete coverage of the Schizosaccharomyces pombe genome in yeast artificial chromosomes. Nat Genet (1992) 1.93
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem (1992) 1.91
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. Genomics (1987) 1.89
Construction and characterization of E. coli promoter-probe plasmid vectors. I. Cloning of promoter-containing DNA fragments. Gene (1979) 1.87
Possible active enhancement of a human cadaver renal allograft with antilymphocyte serum (ALS) and donor bone marrow: case report of an initial attempt. Surgery (1976) 1.84
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol (2000) 1.82
Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology (1989) 1.81
Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature (1988) 1.81
Antiserum to lymphocytes: prolonged survival of canine renal allografts. Science (1966) 1.81
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet (1988) 1.80
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet (1997) 1.79
Two hundred one consecutive living-donor nephrectomies. Arch Surg (1998) 1.75
Sensitive detection of human papillomavirus in cervical, head/neck, and schistosomiasis-associated bladder malignancies. Proc Natl Acad Sci U S A (2005) 1.74
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. J Med Genet (2005) 1.74
Prenatal diagnosis of human genome variation. Annu Rev Genet (1979) 1.73