(Q35289330)

7 August 2017

1 reference

title

Molecular biology of human muscle disease (English)

1 reference

7 August 2017

0 references

P. W. Dunne

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1367210

18 September 2022

H. F. Epstein

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1367210

18 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1367210

18 September 2022

publication date

1 January 1991

1 reference

7 August 2017

1 reference

7 August 2017

volume

9

1 reference

7 August 2017

issue

1

1 reference

7 August 2017

page(s)

41-46

1 reference

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

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Dystrophin. The gene and its product

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Transcription of the dystrophin gene in human muscle and non-muscle tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Association of dystrophin and an integral membrane glycoprotein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Subcellular fractionation of dystrophin to the triads of skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

An autosomal transcript in skeletal muscle with homology to dystrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Molecular and ultrastructural defects in a Drosophila myosin heavy chain mutant: differential effects on muscle function produced by similar thick filament abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Myocardial ultrastructure in idiopathic hypertrophic subaortic stenosis. A study of operatively excised left ventricular outflow tract muscle in 14 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Cell and fiber type distribution of dystrophin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Immunoelectron microscopic localization of dystrophin in myofibres

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

Genetic analysis of myosin assembly in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Study of contractile and cytoskeletal proteins using Drosophila genetics

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Molecular genetic approaches to the study of motility in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Room temperature method for increasing the rate of DNA reassociation by many thousandfold: the phenol emulsion reassociation technique

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

DNA deletions in mild and severe Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Expression of the murine Duchenne muscular dystrophy gene in muscle and brain

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

alpha-Actinins and the DMD protein contain spectrin-like repeats

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Cross-reactive protein in Duchenne muscle

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Immunological study of dystrophin in Duchenne fetus

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19.

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Assignment of the structural gene for the third component of human complement to chromosome 19.

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI.

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

A mutant affecting the heavy chain of myosin in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Familial Prevalence and Genetic Transmission of Idiopathic Hypertrophic Subaortic Stenosis

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Direct gene transfer into mouse muscle in vivo

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Dystrophin production induced by myoblast transfer therapy in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNBT0191-41

7 January 2021

Identifiers

DOI

10.1038/NBT0191-41

1 reference

7 August 2017

1 reference