Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention (Q40170529)

18 September 2017

1 reference

title

Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention (English)

1 reference

18 September 2017

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention (English)

1 reference

Duchenne muscular dystrophy

9 October 2023

main subject

pathogenesis

0 references

1 reference

genetic carrier screening

inferred from title

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6365739

9 October 2023

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9 October 2023

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H. Moser

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6365739

9 October 2023

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=6365739

9 October 2023

publication date

1 January 1984

1 reference

full work available at URL

18 September 2017

http://link.springer.com/content/pdf/10.1007/BF00275183.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00275183/fulltext.html

9 October 2023

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http://link.springer.com/content/pdf/10.1007/BF00275183

9 October 2023

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9 October 2023

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18 September 2017

66

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18 September 2017

1

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18 September 2017

17-40

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https://scigraph.springernature.com/pub.10.1007/bf00275183

18 September 2017

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cites work

Identification of carriers of Duchenne muscular dystrophy by muscle protein synthesis

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Adenyl cyclase abnormality in Duchenne muscular dystrophy: muscle cells in culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Biochemical abnormalities of erythrocyte membranes in Duchenne dystrophy. Adenosine triphosphatase and adenyl cyclase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Multiple muscle analysis of motor units in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Lipid composition of erythrocytes. Findings in Duchenne's muscular dystrophy and myotonic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Scanning Electron Microscopy Studies in Muscular Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Duchenne dystrophy: Electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Serum creatine phosphokinase levels and prednisone treated muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

An Essay towards Solving a Problem in the Doctrine of Chances. By the Late Rev. Mr. Bayes, F. R. S. Communicated by Mr. Price, in a Letter to John Canton, A. M. F. R. S

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

The laboratory diagnosis of the carrier state for classic hemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Identification of abnormally [32P]-phosphorylated cyanogen bromide cleavage product of erythrocyte membrane spectrin in Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Pathogenesis of muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Myosin light chains in Duchenne dystrophy and paraplegic muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Sarcoplasmic reticulum in Duchenne muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Reproduction in Duchenne dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Duchenne dystrophy: Abnormal generation of tension and Ca++ regulation in single skinned fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00275183

Role of intracellular calcium in promoting muscle damage: A strategy for controlling the dystrophic condition

21 January 2018

1 reference

12 December 2020

On Granular and Fatty Degeneration of the Voluntary Muscles.

1 reference

12 December 2020

Membrane abnormalities in Duchenne muscular dystrophy

1 reference

12 December 2020

Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases

1 reference

12 December 2020

Chemical compositional studies of erythrocyte membranes in Duchenne muscular dystrophy

1 reference

12 December 2020

Screening for elevated creatine kinase activities for the early diagnosis of Duchenne muscular dystrophy

1 reference

12 December 2020

Normality of erythrocyte phospholipids in Duchenne muscular dystrophy

1 reference

12 December 2020

Capping of lymphocytes for carrier detection in Duchenne muscular dystrophy: technical problems and a review of the literature

1 reference

12 December 2020

Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection

1 reference

12 December 2020

Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired

1 reference

12 December 2020

Muscle cell differentiation and the prospects for genetic engineering

1 reference

12 December 2020

Analysis of fibroblast proteins from patients with Duchenne muscular dystrophy by two-dimensional gel electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Radioimmunoassay for human myoglobin: methods and results in patients with skeletal muscle or myocardial disorders

1 reference

12 December 2020

Na+ + K+ ATPase of erythrocyte membranes in Duchenne muscular dystrophy

1 reference

12 December 2020

1 reference

12 December 2020

ATP and muscle enzyme efflux after physical exertion

1 reference

12 December 2020

Sarcolemmal membrane changes related to enzyme release in the imipramine/serotonin experimental animal model

1 reference

12 December 2020

Capping of lymphocytes in patients and carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy: reservations to the neurogenic hypothesis

1 reference

12 December 2020

A calcium-activated neutral protease in normal and dystrophic human muscle

1 reference

12 December 2020

Biochemical abnormalities of the sarcoplasmic reticulum in muscular dystrophy

1 reference

12 December 2020

Proline incorporation by cultured skin fibroblasts from patients with duchenne muscular dystrophy

1 reference

12 December 2020

New method for the estimation of the number of motor units in a muscle. 2. Duchenne, limb-girdle and facioscapulohumeral, and myotonic muscular dystrophies

1 reference

12 December 2020

Biochemical study of muscle in progressive muscular dystrophy

1 reference

12 December 2020

The fatty acid composition of various lipid fractions isolated from erythrocytes and blood plasma of patients with Duchenne and congenital myotonic muscular dystrophy

1 reference

12 December 2020

Calcium flux of erythrocytes in Duchenne muscular dystrophy

1 reference

12 December 2020

Molecular cloning and characterization of the human beta-like globin gene cluster

1 reference

12 December 2020

Erythrocytes in Human Muscular Dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis

1 reference

12 December 2020

Newborn screening for Duchenne muscular dystrophy (author's transl)

1 reference

12 December 2020

Terminal innervation ratio in neuromuscular disease. II. Disorders of lower motor neuron, peripheral nerve, and muscle

1 reference

12 December 2020

Letter: A computer program to determine genetic risks: a simplified version of PEDIG (Heuch and Li, 1972).

1 reference

12 December 2020

Erythrocyte Deformation in Human Muscular Dystrophy

1 reference

12 December 2020

Intracellular calcium and pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy

1 reference

12 December 2020

Protein degradation in skin fibroblasts from patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Prenatal diagnosis in Duchenne muscular dystrophy: Salvage of normal male fetus

1 reference

12 December 2020

Adenyl cyclase in normal and pathologic human muscle

1 reference

12 December 2020

Muscular dystrophy and activation of proteinases

1 reference

12 December 2020

Analysis of skin fibroblast aggregation in Duchenne muscular dystrophy

1 reference

12 December 2020

Adenylate cyclase in muscular dystrophy

1 reference

12 December 2020

The inheritance of muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy: 45Ca Exchange in cultured skin fibroblasts and the effect of calcium ionophore A23187

1 reference

12 December 2020

Carrier detection in X-linked recessive (Duchenne) muscular dystrophy: Serum creatine phosphokinase values in premenarchal, menstruating, postmenopausal and pregnant normal women

1 reference

12 December 2020

Genetic linkage between the loci for colour blindness and Duchenne type muscular dystrophy.

1 reference

12 December 2020

Fibroblast cultures in Duchenne muscular dystrophy. Alterations in synthesis and secretion of collagen and noncollagen proteins.

1 reference

12 December 2020

Fetal serum-creatine-phosphokinase not a valid predictor of Duchenne muscular dystrophy

1 reference

12 December 2020

1 reference

12 December 2020

Tropomyosin and troponin in normal and dystrophic human muscle

1 reference

12 December 2020

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1 reference

12 December 2020

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

1 reference

12 December 2020

Changes in the mRNA population of chick myoblasts during myogenesis in vitro

1 reference

12 December 2020

Alterations of membrane phosphorylation in erythrocyte membranes from patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Clinically manifesting carriers in Duchenne muscular dystrophy

1 reference

12 December 2020

Letter: Follow-up study of serum-creatine-kinase in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

1 reference

12 December 2020

Lymphocyte capping and carrier detection in Duchenne muscular dystrophy

1 reference

12 December 2020

An early case report of muscular dystrophy. a footnote to the history of neuromuscular disorders

1 reference

12 December 2020

Intelligence and the gene for Duchenne muscular dystrophy

1 reference

12 December 2020

Isolation of the human ATP-creatine transphosphorylases (creatine phosphokinases) from tissues of patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Genetic counseling in duchenne muscular dystrophy

1 reference

12 December 2020

Genetic-epidemiological studies in progressive muscular dystrophy

1 reference

12 December 2020

Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance.

1 reference

12 December 2020

Adenyl cyclase activity in Duchenne dystrophic muscle

1 reference

12 December 2020

Pedigree testing in duchenne muscular dystrophy

1 reference

12 December 2020

Carrier-detection rate and age in Duchenne muscular dystrophy

1 reference

12 December 2020

Studies of healthy relatives of patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Spinal cord limb motor neurones in muscular dystrophy

1 reference

12 December 2020

Serum creatine kinase and pyruvate kinase in duchenne muscular dystrophy carrier detection

1 reference

12 December 2020

Abnormalities of the Electrocardiogram in Female Carriers of Duchenne Muscular Dystrophy

1 reference

12 December 2020

SERUM ENZYME VARIATIONS AND HISTOLOGICAL ABNORMALITIES IN THE CARRIER STATE IN DUCHENNE DYSTROPHY

1 reference

12 December 2020

A method for the detection of carriers of Duchenne muscular dystrophy--a preliminary report

1 reference

12 December 2020

Freeze-fracture electronmicroscopic analysis of plasma membranes of cultured muscle cells in Duchenne dystrophy

1 reference

12 December 2020

Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy

1 reference

12 December 2020

Fetal plasma carbonic anhydrase III in Duchenne dystrophy

1 reference

12 December 2020

Letter: Erythrocytes in human muscular dystrophy

1 reference

12 December 2020

Failure to demonstrate abnormal lymphocyte capping in humans, mice and hamsters with muscular dystrophy

1 reference

12 December 2020

Evaluation and detection of Duchenne's and Becker's muscular dystrophy carriers by manual muscle testing

1 reference

12 December 2020

Lymphocyte Capping in Carriers of Duchenne Muscular Dystrophy

1 reference

12 December 2020

Failure of Fetal Creatine Phosphokinase as a Diagnostic Indicator of Duchenne Muscular Dystrophy

1 reference

12 December 2020

Muscle blood flow in Duchenne type muscular dystrophy, limb-girdle dystrophy, polymyositis, and in normal controls

1 reference

12 December 2020

Increased erythrocytic osmotic fragility in pseudohypertrophic muscular dystrophy

1 reference

12 December 2020

Psychometric Studies in Muscular Dystrophy Type Ilia (Duchenne)

1 reference

12 December 2020

X chromosome in Duchenne muscular dystrophy

1 reference

12 December 2020

Cardiac conduction abnormalities in children with Duchenne's progressive muscular dystrophy: electrocardiographic features and morphologic correlates

1 reference

12 December 2020

The effects of genetic counselling in Duchenne muscular dystrophy

1 reference

12 December 2020

Carrier detection and genetic counselling in duchenne muscular dystrophy (author's transl)

1 reference

12 December 2020

Clinical features and classification of the muscular dystrophies

1 reference

12 December 2020

Duchenne Muscular Dystrophy: Functional Ischemia Reproduces Its Characteristic Lesions

1 reference

12 December 2020

Genetic counselling in X-linked muscular dystrophy

1 reference

12 December 2020

Triplicated alpha-globin loci in humans

1 reference

12 December 2020

Ultrastructural localization of calcium in normal and abnormal skeletal muscle

1 reference

12 December 2020

Membrane-bound enzymes of erythrocytes in human muscular dystrophy: (Na+ + K+-ATPase, Ca2+-ATPase, K+- and Ca2+-p-nitrophenylphosphatase

1 reference

12 December 2020

Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders

1 reference

12 December 2020

Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds.

1 reference

12 December 2020

Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

1 reference

12 December 2020

MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.

1 reference

12 December 2020

The metabolism of cyclic-3'-5'-adenosine monophosphate (cAMP) in diseased muscle

1 reference

12 December 2020

Studies of the carrier state in the Duchenne type of muscular dystrophy. I. Effect of exercise on serum creatine kinase activity

1 reference

12 December 2020

The female carrier of Duchenne muscular dystrophy.

1 reference

12 December 2020

Carrier testing in families of isolated cases of duchenne muscular dystrophy. Creatine kinase activities in female relatives of mothers with normal CK activity

1 reference

12 December 2020

Membrane function affected by genetic muscular dystrophy. I. Erythrocyte ghost protein kinase

1 reference

12 December 2020

A nearest neighbour decision rule for EMG detection of carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

X-chromosome mosaicism in females with muscular dystrophy

1 reference

12 December 2020

Carrier detection in X-linked Duchenne type muscular dystrophy. A pluridimensional investigation

1 reference

12 December 2020

[Mechanism of some spontaneous mutations in man.]

1 reference

12 December 2020

Factors influencing osmotic fragility of Duchenne red blood cells

1 reference

12 December 2020

Muscle calcium and magnesium content in Duchenne muscular dystrophy

1 reference

12 December 2020

Further Studies Concerning the Detection of Carriership in the Duchenne Type of Dystrophy

1 reference

12 December 2020

PROGRESSIVE MUSCULAR DYSTROPHY. VI. INCIDENCE, CLINICAL ASPECTS AND GENETICS OF THE DUCHENNE TYPE

1 reference

12 December 2020

[Progressive muscular dystrophy. III. Serum enzymes in muscular dystrophy in childhood.]

1 reference

12 December 2020

Diminished microtubules in fibroblast cells derived from inherited dystrophic muscle explants

1 reference

12 December 2020

Contribution on the study of pseudohypertrophic muscular dystrophies. II. Pseudohypertrophic muscular dystrophies in females

1 reference

12 December 2020

The significance of different types of information in calculating the probability that a female relative of a Duchenne muscular dystrophy patient is a carrier

1 reference

12 December 2020

Morphological changes in dystrophic muscle

1 reference

12 December 2020

A cell surface abnormality in Duchenne muscular dystrophy: intercellular adhesiveness of skin fibroblasts from patients and carriers

1 reference

12 December 2020

The sodium pump of erythrocytes from patients with Duchenne muscular dystrophy: effect of ouabain on the active sodium flux and on (Na+, K+)ATPase

1 reference

12 December 2020

PEDIG--a computer program for calculation of genotype probabilities using phenotype information

1 reference

12 December 2020

Muscular Dystrophy: Evidence for a Neural Factor

1 reference

12 December 2020

Membrane myopathy: morphological similarities to Duchenne muscular dystrophy

1 reference

12 December 2020

Microtubules and Duchenne muscular dystrophy

1 reference

12 December 2020

The Duchenne type muscular dystrophy: histopathological studies of the carrier state

1 reference

12 December 2020

Hyperreactive (hyaline, opaque, dark) muscle fibers in Duchenne dystrophy. A biopsy study of 16 dystrophy and 205 other neuronmuscular disease cases and controls

1 reference

12 December 2020

Lymphocyte capping in muscular dystrophy

1 reference

12 December 2020

Myoglobinemia in children with progressive muscular dystrophy

1 reference

12 December 2020

Serum Enzyme Alterations in Neuromuscular Disorders

1 reference

12 December 2020

Sex chromatin and gene action in the mammalian X-chromosome

1 reference

12 December 2020

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study

1 reference

12 December 2020

Palmitoleic acid in erythrocytes from carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

[Simple recessive form of progressive muscular dystrophy with a genealogical chart from Emmental, Switzerland.]

1 reference

12 December 2020

The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication

1 reference

12 December 2020

Echinocytes in families with Duchenne muscular dystrophy

1 reference

12 December 2020

Effect of age on the detection rate in Duchenne muscular dystrophy

1 reference

12 December 2020

Pyruvate-kinase (PK) and creatine-kinase (CK) in normal pregnancy and its implication in genetic counseling of Duchenne muscular dystrophy (DMD)

1 reference

12 December 2020

Studies of the carrier state in the Duchenne type of muscular dystrophy. 2. Quantitative electromyography as a method of carrier detection

1 reference

12 December 2020

Deformability and cell membrane properties of erythrocytes in Duchenne muscular dystrophy

1 reference

12 December 2020

[Testing of a model presentation on spontaneous mutability in human material]

1 reference

12 December 2020

Serum creatine kinase studies in the detection of carriers of Duchenne dystrophy

1 reference

12 December 2020

Identification of Duchenne muscular dystrophy carriers. Electron microscopical investigation of skeletal muscle

1 reference

12 December 2020

Are the mutation rates for the X-chromosomal forms of hemophilia in female gonads lower than in the gonads of males?

1 reference

12 December 2020

Reduced adhesiveness between skin fibroblasts from patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy. A population study

1 reference

12 December 2020

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

1 reference

12 December 2020

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

1 reference

12 December 2020

Autosomal recessive inheritance of Duchennetype muscular dystrophy

1 reference

12 December 2020

SURVEYS ON THE DETERMINATION OF THE MUTATION RATE FOR HEMOPHILIA A AND B IN HAMBURG

1 reference

12 December 2020

Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy

1 reference

12 December 2020

Intellect and Behaviour in Duchenne Muscular Dystrophy

1 reference

12 December 2020

Carrier detection in Duchenne muscular dystrophy by use of cloned DNA sequences

1 reference

12 December 2020

[A new x-chromosomal muscular dystrophy]

1 reference

12 December 2020

SERUM ENZYME STUDIES IN MUSCLE DISEASE. III. SERUM CREATINE KINASE ACTIVITY IN RELATIVES OF PATIENTS WITH THE DUCHENNE TYPE OF MUSCULAR DYSTROPHY.

1 reference

12 December 2020

An electrophysiological study of Duchenne dystrophy

1 reference

12 December 2020

Adenylate cyclase and atpase activities in red cell membranes of patients and genetic carriers of duchenne muscular dystrophy

1 reference

12 December 2020

Erythrocyte abnormality in human myopathy

1 reference

12 December 2020

Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy

1 reference

12 December 2020

Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy

1 reference

12 December 2020

The central nervous system in Duchenne muscular dystrophy

1 reference

12 December 2020

Progressive muscular dystrophy: autosomal recessive type

1 reference

12 December 2020

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)

1 reference

12 December 2020

No sex difference in mutations rates of Duchenne muscular dystrophy.

1 reference

12 December 2020

The detection of carriers of X-linked muscular dystrophy genes. A review of some methods studied in Newcastle upon Tyne

1 reference

12 December 2020

Alterations of adenosine triphosphatase activities in dystrophic muscle sarcolemma.

1 reference

12 December 2020

Osmotic stability of erythrocytes in human muscular dystrophy before and after phospholipase treatment

1 reference

12 December 2020

Erythrocyte spectrin peak II phosphorylation in Duchenne muscular dystrophy

1 reference

12 December 2020

Erythrocyte membrane autophosphorylation in Duchenne muscular dystrophy: Effect of two methods of erythrocyte ghost preparation on results

1 reference

12 December 2020

Calcium-positive muscle fibres in fetuses at risk for Duchenne muscular dystrophy

1 reference

12 December 2020

Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy

1 reference

12 December 2020

Carrier detection in Duchenne muscular dystrophy. A comparative study of electron microscopy, light microscopy and serum enzymes

1 reference

12 December 2020

Muscular dystrophy in Northern Ireland. IV. Some additional data

1 reference

12 December 2020

SEVERE MUSCULAR DYSTROPHY IN GIRLS

1 reference

12 December 2020

Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique

1 reference

12 December 2020

The effect of the age of the father at conception on the mutations to hemphilia A

1 reference

12 December 2020

Estimates of the sex ratio of mutation rates in sex-linked conditions by the method of maximum likelihood

1 reference

12 December 2020

Diagnostic delay in Duchenne's muscular dystrophy

1 reference

12 December 2020

Serum myoglobin in muscular dystrophy and carrier detection

1 reference

12 December 2020

Needle muscle biopsy for carrier detection in Duchenne muscular dystrophy. Part 1. Light microscopy--histology, histochemistry and quantitation

1 reference

12 December 2020

Carrier detection in Duchenne muscular dystrophy

1 reference

12 December 2020

Erythrocyte lipids in progressive muscular dystrophy

1 reference

12 December 2020

Significance of serum myoglobin in neuromuscular diseases and in carrier detection of Duchenne muscular dystrophy

1 reference

12 December 2020

Use of creatine kinase for detecting severe X-linked muscular dystrophy carriers.

1 reference

12 December 2020

[Elevation of the serum aldolase level; biochemical test in myopathy]

1 reference

12 December 2020

A New Method for the Analysis of Age Trends in CPK Levels with Application to Duchenne Muscular Dystrophy

1 reference

12 December 2020

Erythrocytes in Duchenne dystrophy: Osmotic fragility and membrane deformability

1 reference

12 December 2020

Discriminant analysis of ribosomal protein synthesis findings in carrier detection of Duchenne muscular dystrophy.

1 reference

12 December 2020

Electrophysiological estimation of motor units in Duchenne muscular dystrophy

1 reference

12 December 2020

Biochemical, histological and clinical findings in carriers of Duchenne-type progressive muscular dystrophy

1 reference

12 December 2020

Muscle Biopsies in Neuromuscular Diseases

1 reference

12 December 2020

Osmotic fragility of erythrocytes in Duchenne muscular dystrophy

1 reference

12 December 2020

The incidence of Duchenne muscular dystrophy in the South East of Scotland

1 reference

12 December 2020

Electron Spin Resonance Studies of Erythrocytes from Patients with Duchenne Muscular Dystrophy

1 reference

12 December 2020

Two biochemical types of Duchenne dystrophy: sarcoplasmic reticulum membrane proteins

1 reference

12 December 2020

Prevalence and incidence of muscular dystrophy in Alberta, Canada

1 reference

12 December 2020

Isoenzyme distribution of creatine kinase and lactate dehydrogenase in serum and skeletal muscle in Duchenne muscular dystrophy, collagen disease, and other muscular disorders

1 reference

12 December 2020

Erythrocyte cation-activated adenosine triphosphatases in duchenne muscular dystrophy

1 reference

12 December 2020

Phosphorylation of red-cell membrane proteins in Duchenne muscular dystrophy

1 reference

12 December 2020

Prenatal diagnosis of Duchenne's muscular dystrophy

1 reference

12 December 2020

Serum creatine kinase and sulphydryl concentration after ischemic forearm work in patients and carriers of Duchenne's progressive muscular dystrophy

1 reference

12 December 2020

Inclusion bodies in muscular dystrophy

1 reference

12 December 2020

Lymphocyte capping: a diagnostic method in progressive muscular dystrophy?

1 reference

12 December 2020

Erythrocyte membrane abnormalities in Duchenne muscular dystrophy monitored by saturation transfer electron paramagnetic resonance spectroscopy

1 reference

12 December 2020

Human skeletal muscle fibers in normal and pathological states; freeze-etch replica observations

1 reference

12 December 2020

Aldolase isoenzymes in serum and muscle from patients with progressive muscular dystrophy and from human foetus

1 reference

12 December 2020

Prednisone in Duchenne muscular dystrophy

1 reference

12 December 2020

Quantitative electromyography in the detection of the carriers in duchenne type muscular dystrophy

1 reference

12 December 2020

Decrease in the Rate of Protein Synthesis by Polysomes from Cultured Fibroblasts of Patients and Carriers with Duchenne Muscular Dystrophy

1 reference

12 December 2020

Phospholipid composition of cultivated skin fibroblasts in Duchenne's muscular dystrophy

1 reference

12 December 2020

Split genes and muscular dystrophy

1 reference

12 December 2020

Newborn screening for Duchenne muscular dystrophy

1 reference

12 December 2020

Controversies about Duchenne muscular dystrophy. (1) Neonatal screening

1 reference

12 December 2020

Four cases of Duchenne-type muscular dystrophy in girls

1 reference

12 December 2020

Erythrocyte changes (echino- and stomatocytic) in muscular dystrophy: research on possible applications in diagnosis and eugenics

1 reference

12 December 2020

Decreased A23187-induced chemiluminescence in Duchenne muscular dystrophy granulocytes

1 reference

12 December 2020

The biochemical identification of the carrier state in X-linked recessive (Duchenne) muscular dystrophy

1 reference

12 December 2020

Morphological changes of erythrocytes in patients and carriers of Duchenne disease

1 reference

12 December 2020

Carrier Detection in Duchenne Muscular Dystrophy

1 reference

12 December 2020

Decreased phosphorylase activity in leucocytes of Duchenne carriers

1 reference

12 December 2020

Red blood cell and fibroblast membranes in Duchenne and myotonic muscular dystrophy

1 reference

12 December 2020

Structural changes of erythrocyte membranes in muscllar dystrophy

1 reference

12 December 2020

The Carrier State in Muscular Dystrophy of the Duchenne Type

1 reference

12 December 2020

The use of serum creatine phosphokinase in genetic counseling for Duchenne muscular dystrophy. II. Review of methods of assay and factors which may be relevant in the interpretation of serum creatine phosphokinase activity

1 reference

12 December 2020

Evidence of early impairment of verbal intelligence in Duchenne muscular dystrophy

1 reference

12 December 2020

Clinical studies in benign (Becker type) X-linked muscular dystrophy

1 reference

12 December 2020

Parental age and mutation

1 reference

12 December 2020

MYOPATHIC CHANGES IN MUSCULAR DYSTROPHY CARRIERS.

1 reference

12 December 2020

Mental retardation in association with progressive dystrophy

1 reference

12 December 2020

Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?

1 reference

12 December 2020

Muscular dystrophy in young girls

1 reference

12 December 2020

The sporadic case of haemophilia A.

1 reference

12 December 2020

Experimental myopathy after microarterial embolization; comparison with childhood x-linked pseudohypertrophic muscular dystrophy

1 reference

12 December 2020

Muscle provocation test. A sensitive method for discrimination between carriers and noncarriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness

1 reference

12 December 2020

Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates

1 reference

12 December 2020

On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies

1 reference

12 December 2020

The manifesting carrier in Duchenne muscular dystrophy

1 reference

12 December 2020

The importance of serum pyruvate kinase in neuromuscular diseases and carrier states

1 reference

12 December 2020

Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation

1 reference

12 December 2020

Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibers in 114 biopsies

1 reference

12 December 2020

Serum pyruvate kinase in muscle disease and carrier states.

1 reference

12 December 2020

Is Duchenne muscular dystrophy a simple genic disorder

1 reference

12 December 2020

Mutation rate in Duchenne type of muscular dystrophy

1 reference

12 December 2020

Intellectual Impairment in Muscular Dystrophy

1 reference

12 December 2020

Specificity of biophysical and biochemical alterations in erythrocyte membranes in neurological disorders--Huntington's disease, Friedreich's ataxia, Alzheimer's disease, amyotrophic lateral sclerosis, and myotonic and duchenne muscular dystrophy

1 reference

12 December 2020

Serum enzymes in the myopathies

1 reference

12 December 2020

Cardiac function in Duchenne's muscular dystrophy. Results of 10-year follow-up study and noninvasive tests

1 reference

12 December 2020

Stages in fibre breakdown in Duchenne muscular dystrophy. An electron-microscopic study

1 reference

12 December 2020

Erythrocyte ghost adenosine triphosphatase (ATPase) in Duchenne dystrophy

1 reference

12 December 2020

Morphology and deformability of erythrocytes in muscular dystrophy

1 reference

12 December 2020

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm

1 reference

12 December 2020

Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Erythrocyte ghosts (Na+ + K+) ATPase activity in Duchenne's dystrophy and myotonia

1 reference

12 December 2020

An evaluation of lymphocyte capping in Duchenne muscular dystrophy

1 reference

12 December 2020

Serum creatine kinase levels in normal females

1 reference

12 December 2020

Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy

1 reference

12 December 2020

A genetic study of Duchenne muscular dystrophy in West Midlands

1 reference

12 December 2020

Mutation in the sex-linked recessive type of muscular dystrophy; a possible sex difference

1 reference

12 December 2020

New data on the genetics and classification of muscular dystrophies

1 reference

12 December 2020

Is erythrocyte membrane phospholipid organisation abnormal in Duchenne muscular dystrophy?

1 reference

12 December 2020

Abnormal Growth Kinetics and 5′-Nucleotidase Activities in Cultured Skin Fibroblasts from Patients with Duchenne Muscular Dystrophy

1 reference

12 December 2020

Histopathological features of muscle in the preclinical stages of muscular dystrophy

1 reference

12 December 2020

Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance.

1 reference

12 December 2020

A Freeze-Fracture Study of the Plasma Membrane of Muscle Fibres of a Patient with Chronic Creatine Kinase Elevation Suspected for Maligant Hyperthermia

1 reference

12 December 2020

Biochemistry of muscle membranes in Duchenne muscular dystrophy

1 reference

12 December 2020

Segregation analysis in human genetics

1 reference

12 December 2020

Early diagnosis of Duchenne muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy: data from family studies

1 reference

12 December 2020

Use of normal daughters' and sisters' creatine kinase levels in estimating heterozygosity in Duchenne muscular dystrophy

1 reference

12 December 2020

Histochemically demonstrable fibre abnormalities in normal skeletal muscle and in muscle from carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Studies of sarcolemmal integrity in myopathic muscle

1 reference

12 December 2020

Premature aging of fibroblasts from patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper

1 reference

12 December 2020

Echocardiography in duchenne muscular dystrophy

1 reference

12 December 2020

A probable sex difference in some mutation rates.

1 reference

12 December 2020

Effects of genetic counseling on Duchenne muscular dystrophy families in Brazil.

1 reference

12 December 2020

Serum pyruvate-kinase (PK) activity during pregnancy in potential carriers for Duchenne muscular dystrophy

1 reference

12 December 2020

Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy in young girls?

1 reference

12 December 2020

Duchenne dystrophy. II. Morphometric study of motor end-plate fine structure.

1 reference

12 December 2020

Ouabain and erythrocyte-ghost adenosine triphosphatase. Effects in human muscular dystrophies

1 reference

12 December 2020

The linkage relations of the loci for benign (Becker type) X-borne muscular dystrophy, colour blindness and the Xg blood groups

1 reference

12 December 2020

Systemic Membrane Defect in the Proximal Muscular Dystrophies

1 reference

12 December 2020

Prenatal diagnosis of Duchenne muscular dystrophy: failure of amniotic fluid and maternal serum N tau-methylhistidine analyses to detect affected fetuses

1 reference

12 December 2020

Adenylate cyclase in Duchenne fibroblasts

1 reference

12 December 2020

"Sick" motoneurones. A unifying concept of muscle disease

1 reference

12 December 2020

[Determination of the probability of being heterozygote among relatives of sporadic cases of sex-linked recessive diseases (author's transl)]

1 reference

12 December 2020

Studies on muscular dystrophy: A comparison by physical and chemical means of the normal human ATP-creatine transphosphorylases (creatine kinases) with those from tissues of duchenne muscular dystrophy

1 reference

12 December 2020

An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.

1 reference

12 December 2020

CREATINE KINASE LEVELS IN WOMEN WHO CARRY GENES FOR THREE TYPES OF MUSCULAR DYSTROPHY

1 reference

12 December 2020

Histopathological study of the conduction system of the heart in Duchenne progressive muscular dystrophy

1 reference

12 December 2020

Discrimination of genetic entities in muscular dystrophy

1 reference

12 December 2020

A molecular explanation of the bobbed mutants of Drosophila as partial deficiencies of "ribosomal" DNA.

1 reference

12 December 2020

Freeze fracture studies of muscle plasma membrane in human muscular dystrophy

1 reference

12 December 2020

The sex ratio of mutation rates of sex-linked recessive genes in man with particular reference to Duchenne type muscular dystrophy

1 reference

12 December 2020

Lymphocyte capping in Duchenne muscular dystrophy

1 reference

12 December 2020

Use of Normal Daughters&rsquo; CPK Levels in the Estimation of Heterozygosity Risks in X-Linked Muscular Dystrophies

1 reference

12 December 2020

Duchenne's muscular dystrophy: carrier detection by muscle ultrasound

1 reference

12 December 2020

Consanguinity in a midwestern United States isolate

1 reference

12 December 2020

Effect of ouabain upon erythrocyte membrane adenosine triphosphatase in Duchenne muscular dystrophy

1 reference

12 December 2020

Formal genetics of muscular dystrophy

1 reference

12 December 2020

Deformed erythrocytes in muscular dystrophies

1 reference

12 December 2020

The molecular defect in Duchenne muscular dystrophy.

1 reference

12 December 2020

Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity

1 reference

12 December 2020

Frequency of new mutants among boys with Duchenne muscular dystrophy

1 reference

12 December 2020

The use and limitations of chiasma scoring with reference to human genetic mapping

1 reference

12 December 2020

THE DIAGNOSTIC VALUE OF SERUM CREATINE KINASE IN NEUROMUSCULAR AND MUSCULAR DISEASE

1 reference

12 December 2020

Duchenne dystrophy. I. Morphometric study of the muscle microvasculature.

1 reference

12 December 2020

New theory on the pathogenesis of Duchenne's pseudo-hypertrophic muscular dystrophy

1 reference

12 December 2020

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.

1 reference

12 December 2020

Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Adenylate cyclase in Duchenne and Fukuyama type muscular dystrophy

1 reference

12 December 2020

MUSCLE HISTOLOGY IN CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY.

1 reference

12 December 2020

Feasibility of neonatal screening for Duchenne muscular dystrophy

1 reference

12 December 2020

Answer to criticism of Morton and Lalouel

1 reference

12 December 2020

[Duchenne muscular dystrophy: detection of carriers using ultrasound]

1 reference

12 December 2020

Erythrocyte survival in Duchenne muscular dystrophy

1 reference

12 December 2020

Duchenne's muscular dystrophy: studies in cultured fibroblasts

1 reference

12 December 2020

The contribution of assays for lymphocyte capping and creatine kinase to detection of the Becker-type dystrophy trait

1 reference

12 December 2020

(NA++K+)-ATPase of Duchenne muscular dystrophy erythrocyte ghosts

1 reference

12 December 2020

Human lymphocyte capping in Duchenne muscular dystrophy

1 reference

12 December 2020

Carrier detection and genetic counselling in Duchenne muscular dystrophy: a follow-up study

1 reference

12 December 2020

Erythrocyte phospholipids in Duchenne muscular dystrophy

1 reference

12 December 2020

On the Pathogenesis of Duchenne Muscular Dystrophy*

1 reference

12 December 2020

Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory

1 reference

12 December 2020

Thermodynamic behaviour of membrane enzymes in Duchenne muscular dystrophy

1 reference

12 December 2020

Protein kinase and adenylate cyclase of erythrocyte membrane from patients with Duchenne muscular dystrophy

1 reference

12 December 2020

An evaluation of some carrier detection techniques in Duchenne muscular dystrophy

1 reference

12 December 2020

Echocardiographic assessment of left ventricular function in Duchenne's muscular dystrophy

1 reference

12 December 2020

The effect of parental age on rate of mutation for Duchenne Muscular dystrophy

1 reference

12 December 2020

A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy

1 reference

12 December 2020

Erythrocyte lipids in heterozygous carriers of duchenne muscular dystrophy

1 reference

12 December 2020

Screening the newborn for Duchenne muscular dystrophy: parents' views

1 reference

12 December 2020

Decreased insulin receptors but normal glucose metabolism in Duchenne muscular dystrophy

1 reference

12 December 2020

Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences

1 reference

12 December 2020

Segmental fibre breakdown and defects of the plasmalemma in diseased human muscles

1 reference

12 December 2020

Central nervous system manifestations in childhood muscular dystrophy (CMD). I. Psychometric and electroencephalographic findings

1 reference

12 December 2020

Freeze-fracture analysis of plasma membranes in Duchenne muscular dystrophy

1 reference

12 December 2020

Prenatal diagnosis of Duchenne's muscular dystrophy

1 reference

12 December 2020

Intellectual function in childhood progressive muscular dystrophy

1 reference

12 December 2020

Adenosine triphosphatase and myopathy

1 reference

12 December 2020

Duchenne Pseudohypertrophic Muscular Dystrophy: A Clinical and Electrocardiographic Study of Patients and Female Carriers

1 reference

12 December 2020

Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus

1 reference

12 December 2020

Serum creatine kinase levels in pubertal, mature, pregnant, and postmenopausal women

1 reference

12 December 2020

Antenatal diagnosis of Duchenne muscular dystrophy

1 reference

12 December 2020

A study of possible heterogeneity in Duchenne muscular dystrophy

1 reference

12 December 2020

Lipids and proteins of erythrocyte membrane in Duchenne muscular dystrophy

1 reference

12 December 2020

The neural hypothesis of muscular dystrophy. A review of recent experimental evidence with particular reference to the Duchenne form

1 reference

12 December 2020

Increased phosphorylated components of erythrocyte membrane spectrin band II with reference to Duchenne muscular dystrophy

1 reference

12 December 2020

[Estimation of mutation rate in muscular dystrophy]

1 reference

12 December 2020

Ultrastructural changes in skeletal muscle of muscular dystrophy carriers

1 reference

12 December 2020

Myosin from normal and dystrophic human muscle. Immunochemical and electrophoretic studies

1 reference

12 December 2020

5′-Nucleotidase Activity in Duchenne Muscular Dystrophy

1 reference

12 December 2020

Spin label study of erythrocyte membrane fluidity in myotonic and Duchenne muscular dystrophy and congenital myotonia

1 reference

12 December 2020

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Identifiers

DOI

10.1007/BF00275183

1 reference

Dimensions Publication ID

18 September 2017

0 references

1 reference