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Genetics of Duchenne Muscular Dystrophy

Annual review of genetics, 1988-01, Vol.22 (1), p.601-629

1988

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The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced

Nature genetics, 1995-02, Vol.9 (2), p.184-190

1995

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A canadian collaborative study of mosaicism in amniotic fluid cell cultures

Prenatal diagnosis, 1984-01, Vol.4 (7), p.131-144

1984

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Myoblast transfer in duchenne muscular dystrophy

Annals of neurology, 1993-07, Vol.34 (1), p.8-17

1993

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Condensation of plasmid DNA with polylysine improves liposome-mediated gene transfer into established and primary muscle cells

Gene therapy, 1996-05, Vol.3 (5), p.396

1996

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Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

Nature (London), 1990-02, Vol.343 (6258), p.559-561

1990

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The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice

Human molecular genetics, 2004-11, Vol.13 (22), p.2853-2862

2004

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The Mouse Dystrophin Enhancer Is Regulated by MyoD, E-box-binding Factors, and by the Serum Response Factor

The Journal of biological chemistry, 2001-06, Vol.276 (23), p.20719-20726

2001

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Transfection of cultured myoblasts in high serum concentration with DODAC:DOPE liposomes

Gene therapy, 1998-10, Vol.5 (10), p.1306-1313

1998

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A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

Genomics (San Diego, Calif.), 1991-11, Vol.11 (3), p.751-755

1991

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The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Nature (London), 1988-06, Vol.333 (6172), p.466-469

1988

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Dystrophin expression in the human retina is required for normal function as defined by electroretinography

Nature genetics, 1993-05, Vol.4 (1), p.82-86

1993

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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation

American journal of human genetics, 1990-04, Vol.46 (4), p.682-695

1990

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Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation

The American journal of pathology, 1989-07, Vol.135 (1), p.27-32

1989

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Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

Molecular and Cellular Biology, 1990-01, Vol.10 (1), p.193-205

1990

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Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor ( RYR1) gene in individuals with malignant hyperthermia

Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.1247-1254

1992

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Stability of the human dystrophin transcript in muscle

Nucleic acids research, 1996-08, Vol.24 (15), p.3059

1996

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Dystrophin isoforms Dp71 and Dp427 have distinct roles in myogenic cells

Muscle & nerve, 1999-01, Vol.22 (1), p.16-27

1999

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Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

The EMBO journal, 1991-09, Vol.10 (9), p.2471-2477

1991

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

Science (American Association for the Advancement of Science), 1988-11, Vol.242 (4879), p.755-759

1988

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Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle

Developmental dynamics, 2002-05, Vol.224 (1), p.30-38

2002

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A cDNA clone from the Duchenne/Becker muscular dystrophy gene

Nature (London), 1987-07, Vol.328 (6129), p.434-437

1987

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

American journal of human genetics, 1989-10, Vol.45 (4), p.507-520

1989

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Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

Nature (London), 1985-01, Vol.318 (6047), p.672-675

1985

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A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs

Nucleic acids research, 1997-04, Vol.25 (8), p.1618

1997

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Genetics of Duchenne Muscular Dystrophy

The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced

A canadian collaborative study of mosaicism in amniotic fluid cell cultures

Myoblast transfer in duchenne muscular dystrophy

Condensation of plasmid DNA with polylysine improves liposome-mediated gene transfer into established and primary muscle cells

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice

The Mouse Dystrophin Enhancer Is Regulated by MyoD, E-box-binding Factors, and by the Serum Response Factor

Transfection of cultured myoblasts in high serum concentration with DODAC:DOPE liposomes

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation

Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation

Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor ( RYR1) gene in individuals with malignant hyperthermia

Stability of the human dystrophin transcript in muscle

Dystrophin isoforms Dp71 and Dp427 have distinct roles in myogenic cells

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

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

Mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle

A cDNA clone from the Duchenne/Becker muscular dystrophy gene

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

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs

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